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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SCN8A-PPFIA2 (FusionGDB2 ID:79696)

Fusion Gene Summary for SCN8A-PPFIA2

check button Fusion gene summary
Fusion gene informationFusion gene name: SCN8A-PPFIA2
Fusion gene ID: 79696
HgeneTgene
Gene symbol

SCN8A

PPFIA2

Gene ID

6334

8499

Gene namesodium voltage-gated channel alpha subunit 8PTPRF interacting protein alpha 2
SynonymsBFIS5|CERIII|CIAT|EIEE13|MED|MYOCL2|NaCh6|Nav1.6|PN4-
Cytomap

12q13.13

12q21.31

Type of geneprotein-codingprotein-coding
Descriptionsodium channel protein type 8 subunit alphahNa6/Scn8a voltage-gated sodium channelsodium channel, voltage gated, type VIII, alpha subunitvoltage-gated sodium channel subunit alpha Nav1.6voltage-gated sodium channel type VIII alpha proteinliprin-alpha-2protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000354534, ENST00000545061, 
ENST00000550891, ENST00000546961, 
ENST00000333447, ENST00000407050, 
ENST00000443686, ENST00000545296, 
ENST00000548586, ENST00000550359, 
ENST00000552948, ENST00000541017, 
ENST00000541570, ENST00000549325, 
ENST00000549396, ENST00000550584, 
Fusion gene scores* DoF score7 X 8 X 5=28017 X 12 X 4=816
# samples 816
** MAII scorelog2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/816*10)=-2.35049724708413
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SCN8A [Title/Abstract] AND PPFIA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSCN8A(52145377)-PPFIA2(81851645), # samples:2
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across SCN8A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across PPFIA2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-DX-AB2G-01ASCN8Achr12

52145377

-PPFIA2chr12

81851645

-
ChimerDB4SARCTCGA-DX-AB2G-01ASCN8Achr12

52145377

+PPFIA2chr12

81851645

-


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Fusion Gene ORF analysis for SCN8A-PPFIA2

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000354534ENST00000333447SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000354534ENST00000407050SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000354534ENST00000443686SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000354534ENST00000545296SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000354534ENST00000548586SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000354534ENST00000550359SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000354534ENST00000552948SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000545061ENST00000333447SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000545061ENST00000407050SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000545061ENST00000443686SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000545061ENST00000545296SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000545061ENST00000548586SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000545061ENST00000550359SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000545061ENST00000552948SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000550891ENST00000333447SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000550891ENST00000407050SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000550891ENST00000443686SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000550891ENST00000545296SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000550891ENST00000548586SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000550891ENST00000550359SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-5UTRENST00000550891ENST00000552948SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-intronENST00000354534ENST00000541017SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-intronENST00000354534ENST00000541570SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-intronENST00000545061ENST00000541017SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-intronENST00000545061ENST00000541570SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-intronENST00000550891ENST00000541017SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
5CDS-intronENST00000550891ENST00000541570SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
In-frameENST00000354534ENST00000549325SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
In-frameENST00000354534ENST00000549396SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
In-frameENST00000354534ENST00000550584SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
In-frameENST00000545061ENST00000549325SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
In-frameENST00000545061ENST00000549396SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
In-frameENST00000545061ENST00000550584SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
In-frameENST00000550891ENST00000549325SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
In-frameENST00000550891ENST00000549396SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
In-frameENST00000550891ENST00000550584SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-3CDSENST00000546961ENST00000549325SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-3CDSENST00000546961ENST00000549396SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-3CDSENST00000546961ENST00000550584SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-5UTRENST00000546961ENST00000333447SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-5UTRENST00000546961ENST00000407050SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-5UTRENST00000546961ENST00000443686SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-5UTRENST00000546961ENST00000545296SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-5UTRENST00000546961ENST00000548586SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-5UTRENST00000546961ENST00000550359SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-5UTRENST00000546961ENST00000552948SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-intronENST00000546961ENST00000541017SCN8Achr12

52145377

+PPFIA2chr12

81851645

-
intron-intronENST00000546961ENST00000541570SCN8Achr12

52145377

+PPFIA2chr12

81851645

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000550891SCN8Achr1252145377+ENST00000549396PPFIA2chr1281851645-7397249811059681952
ENST00000550891SCN8Achr1252145377+ENST00000550584PPFIA2chr1281851645-7304249811059381942
ENST00000550891SCN8Achr1252145377+ENST00000549325PPFIA2chr1281851645-6703249811059471945
ENST00000354534SCN8Achr1252145377+ENST00000549396PPFIA2chr1281851645-7447254816060181952
ENST00000354534SCN8Achr1252145377+ENST00000550584PPFIA2chr1281851645-7354254816059881942
ENST00000354534SCN8Achr1252145377+ENST00000549325PPFIA2chr1281851645-6753254816059971945
ENST00000545061SCN8Achr1252145377+ENST00000549396PPFIA2chr1281851645-732324243658941952
ENST00000545061SCN8Achr1252145377+ENST00000550584PPFIA2chr1281851645-723024243658641942
ENST00000545061SCN8Achr1252145377+ENST00000549325PPFIA2chr1281851645-662924243658731945

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000550891ENST00000549396SCN8Achr1252145377+PPFIA2chr1281851645-0.0006592140.9993407
ENST00000550891ENST00000550584SCN8Achr1252145377+PPFIA2chr1281851645-0.0006918760.9993081
ENST00000550891ENST00000549325SCN8Achr1252145377+PPFIA2chr1281851645-0.0010391670.99896085
ENST00000354534ENST00000549396SCN8Achr1252145377+PPFIA2chr1281851645-0.0007354640.99926454
ENST00000354534ENST00000550584SCN8Achr1252145377+PPFIA2chr1281851645-0.0007624440.99923754
ENST00000354534ENST00000549325SCN8Achr1252145377+PPFIA2chr1281851645-0.0011269110.99887305
ENST00000545061ENST00000549396SCN8Achr1252145377+PPFIA2chr1281851645-0.0006000610.9993999
ENST00000545061ENST00000550584SCN8Achr1252145377+PPFIA2chr1281851645-0.0006236250.99937636
ENST00000545061ENST00000549325SCN8Achr1252145377+PPFIA2chr1281851645-0.0009371470.99906284

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Fusion Genomic Features for SCN8A-PPFIA2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SCN8A-PPFIA2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:52145377/chr12:81851645)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427356_3807901981.0IntramembranePore-forming
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325356_3807901940.0IntramembranePore-forming
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427114_4427901981.0RepeatI
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325114_4427901940.0RepeatI
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427152_1587901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427180_1937901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271_1327901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427212_2177901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427235_2537901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427274_3557901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427381_3877901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427409_7537901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427773_7837901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325152_1587901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325180_1937901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251_1327901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325212_2177901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325235_2537901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325274_3557901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325381_3877901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325409_7537901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325773_7837901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427133_1517901981.0TransmembraneHelical%3B Name%3DS1 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427159_1797901981.0TransmembraneHelical%3B Name%3DS2 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427194_2117901981.0TransmembraneHelical%3B Name%3DS3 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427218_2347901981.0TransmembraneHelical%3B Name%3DS4 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427254_2737901981.0TransmembraneHelical%3B Name%3DS5 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427388_4087901981.0TransmembraneHelical%3B Name%3DS6 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427754_7727901981.0TransmembraneHelical%3B Name%3DS1 of repeat II
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325133_1517901940.0TransmembraneHelical%3B Name%3DS1 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325159_1797901940.0TransmembraneHelical%3B Name%3DS2 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325194_2117901940.0TransmembraneHelical%3B Name%3DS3 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325218_2347901940.0TransmembraneHelical%3B Name%3DS4 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325254_2737901940.0TransmembraneHelical%3B Name%3DS5 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325388_4087901940.0TransmembraneHelical%3B Name%3DS6 of repeat I
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325754_7727901940.0TransmembraneHelical%3B Name%3DS1 of repeat II
TgenePPFIA2chr12:52145377chr12:81851645ENST000004070500291081_1107271033.6666666666667Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000407050029185_541271033.6666666666667Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST0000040705002929_154271033.6666666666667Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000407050029643_695271033.6666666666667Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST000004436860281081_1107271153.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000443686028185_541271153.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST0000044368602829_154271153.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000443686028643_695271153.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST000005410170221081_11070557.6666666666666Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000541017022185_5410557.6666666666666Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST0000054101702229_1540557.6666666666666Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000541017022643_6950557.6666666666666Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST000005415700201081_11070784.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000541570020185_5410784.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST0000054157002029_1540784.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000541570020643_6950784.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST000005485862311081_11071011252.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000548586231185_5411011252.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000548586231643_6951011252.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST000005493251311081_1107831233.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000549325131185_541831233.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000549325131643_695831233.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST000005493963331081_11071011700.6666666666667Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000549396333185_5411011700.6666666666667Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000549396333643_6951011700.6666666666667Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST000005529482301081_11071011237.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000552948230185_5411011237.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000552948230643_6951011237.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST00000407050029115_528271033.6666666666667Compositional biasNote=Glu-rich
TgenePPFIA2chr12:52145377chr12:81851645ENST00000407050029622_627271033.6666666666667Compositional biasNote=Poly-Asp
TgenePPFIA2chr12:52145377chr12:81851645ENST00000443686028115_528271153.0Compositional biasNote=Glu-rich
TgenePPFIA2chr12:52145377chr12:81851645ENST00000443686028622_627271153.0Compositional biasNote=Poly-Asp
TgenePPFIA2chr12:52145377chr12:81851645ENST00000541017022115_5280557.6666666666666Compositional biasNote=Glu-rich
TgenePPFIA2chr12:52145377chr12:81851645ENST00000541017022622_6270557.6666666666666Compositional biasNote=Poly-Asp
TgenePPFIA2chr12:52145377chr12:81851645ENST00000541570020115_5280784.0Compositional biasNote=Glu-rich
TgenePPFIA2chr12:52145377chr12:81851645ENST00000541570020622_6270784.0Compositional biasNote=Poly-Asp
TgenePPFIA2chr12:52145377chr12:81851645ENST00000548586231115_5281011252.0Compositional biasNote=Glu-rich
TgenePPFIA2chr12:52145377chr12:81851645ENST00000548586231622_6271011252.0Compositional biasNote=Poly-Asp
TgenePPFIA2chr12:52145377chr12:81851645ENST00000549325131115_528831233.0Compositional biasNote=Glu-rich
TgenePPFIA2chr12:52145377chr12:81851645ENST00000549325131622_627831233.0Compositional biasNote=Poly-Asp
TgenePPFIA2chr12:52145377chr12:81851645ENST00000549396333115_5281011700.6666666666667Compositional biasNote=Glu-rich
TgenePPFIA2chr12:52145377chr12:81851645ENST00000549396333622_6271011700.6666666666667Compositional biasNote=Poly-Asp
TgenePPFIA2chr12:52145377chr12:81851645ENST00000552948230115_5281011237.0Compositional biasNote=Glu-rich
TgenePPFIA2chr12:52145377chr12:81851645ENST00000552948230622_6271011237.0Compositional biasNote=Poly-Asp
TgenePPFIA2chr12:52145377chr12:81851645ENST000004070500291020_1084271033.6666666666667DomainSAM 2
TgenePPFIA2chr12:52145377chr12:81851645ENST000004070500291108_1177271033.6666666666667DomainSAM 3
TgenePPFIA2chr12:52145377chr12:81851645ENST00000407050029898_964271033.6666666666667DomainSAM 1
TgenePPFIA2chr12:52145377chr12:81851645ENST000004436860281020_1084271153.0DomainSAM 2
TgenePPFIA2chr12:52145377chr12:81851645ENST000004436860281108_1177271153.0DomainSAM 3
TgenePPFIA2chr12:52145377chr12:81851645ENST00000443686028898_964271153.0DomainSAM 1
TgenePPFIA2chr12:52145377chr12:81851645ENST000005410170221020_10840557.6666666666666DomainSAM 2
TgenePPFIA2chr12:52145377chr12:81851645ENST000005410170221108_11770557.6666666666666DomainSAM 3
TgenePPFIA2chr12:52145377chr12:81851645ENST00000541017022898_9640557.6666666666666DomainSAM 1
TgenePPFIA2chr12:52145377chr12:81851645ENST000005415700201020_10840784.0DomainSAM 2
TgenePPFIA2chr12:52145377chr12:81851645ENST000005415700201108_11770784.0DomainSAM 3
TgenePPFIA2chr12:52145377chr12:81851645ENST00000541570020898_9640784.0DomainSAM 1
TgenePPFIA2chr12:52145377chr12:81851645ENST000005485862311020_10841011252.0DomainSAM 2
TgenePPFIA2chr12:52145377chr12:81851645ENST000005485862311108_11771011252.0DomainSAM 3
TgenePPFIA2chr12:52145377chr12:81851645ENST00000548586231898_9641011252.0DomainSAM 1
TgenePPFIA2chr12:52145377chr12:81851645ENST000005493251311020_1084831233.0DomainSAM 2
TgenePPFIA2chr12:52145377chr12:81851645ENST000005493251311108_1177831233.0DomainSAM 3
TgenePPFIA2chr12:52145377chr12:81851645ENST00000549325131898_964831233.0DomainSAM 1
TgenePPFIA2chr12:52145377chr12:81851645ENST000005493963331020_10841011700.6666666666667DomainSAM 2
TgenePPFIA2chr12:52145377chr12:81851645ENST000005493963331108_11771011700.6666666666667DomainSAM 3
TgenePPFIA2chr12:52145377chr12:81851645ENST00000549396333898_9641011700.6666666666667DomainSAM 1
TgenePPFIA2chr12:52145377chr12:81851645ENST000005529482301020_10841011237.0DomainSAM 2
TgenePPFIA2chr12:52145377chr12:81851645ENST000005529482301108_11771011237.0DomainSAM 3
TgenePPFIA2chr12:52145377chr12:81851645ENST00000552948230898_9641011237.0DomainSAM 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271895_19247901981.0DomainIQ
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251895_19247901940.0DomainIQ
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271400_14217901981.0IntramembranePore-forming
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271691_17137901981.0IntramembranePore-forming
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427922_9427901981.0IntramembranePore-forming
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251400_14217901940.0IntramembranePore-forming
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251691_17137901940.0IntramembranePore-forming
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325922_9427901940.0IntramembranePore-forming
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427893_9007901981.0Nucleotide bindingATP
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325893_9007901940.0Nucleotide bindingATP
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271180_14957901981.0RepeatIII
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271504_18017901981.0RepeatIV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427735_10077901981.0RepeatII
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251180_14957901940.0RepeatIII
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251504_18017901940.0RepeatIV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325735_10077901940.0RepeatII
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271218_12307901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271250_12637901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271283_12907901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271310_13267901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271347_13997901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271422_14387901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271461_15237901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271542_15527901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271572_15837901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271602_16147901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271632_16507901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271669_16907901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271714_17427901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271766_19807901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427804_8177901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427838_8397901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427858_8737901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427893_9217901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427943_9557901981.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427977_11997901981.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251218_12307901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251250_12637901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251283_12907901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251310_13267901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251347_13997901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251422_14387901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251461_15237901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251542_15527901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251572_15837901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251602_16147901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251632_16507901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251669_16907901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251714_17427901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251766_19807901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325804_8177901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325838_8397901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325858_8737901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325893_9217901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325943_9557901940.0Topological domainExtracellular
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325977_11997901940.0Topological domainCytoplasmic
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271200_12177901981.0TransmembraneHelical%3B Name%3DS1 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271231_12497901981.0TransmembraneHelical%3B Name%3DS2 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271264_12827901981.0TransmembraneHelical%3B Name%3DS3 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271291_13097901981.0TransmembraneHelical%3B Name%3DS4 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271327_13467901981.0TransmembraneHelical%3B Name%3DS5 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271439_14607901981.0TransmembraneHelical%3B Name%3DS6 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271524_15417901981.0TransmembraneHelical%3B Name%3DS1 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271553_15717901981.0TransmembraneHelical%3B Name%3DS2 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271584_16017901981.0TransmembraneHelical%3B Name%3DS3 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271615_16317901981.0TransmembraneHelical%3B Name%3DS4 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271651_16687901981.0TransmembraneHelical%3B Name%3DS5 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+14271743_17657901981.0TransmembraneHelical%3B Name%3DS6 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427784_8037901981.0TransmembraneHelical%3B Name%3DS2 of repeat II
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427818_8377901981.0TransmembraneHelical%3B Name%3DS3 of repeat II
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427840_8577901981.0TransmembraneHelical%3B Name%3DS4 of repeat II
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427874_8927901981.0TransmembraneHelical%3B Name%3DS5 of repeat II
HgeneSCN8Achr12:52145377chr12:81851645ENST00000354534+1427956_9767901981.0TransmembraneHelical%3B Name%3DS6 of repeat II
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251200_12177901940.0TransmembraneHelical%3B Name%3DS1 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251231_12497901940.0TransmembraneHelical%3B Name%3DS2 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251264_12827901940.0TransmembraneHelical%3B Name%3DS3 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251291_13097901940.0TransmembraneHelical%3B Name%3DS4 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251327_13467901940.0TransmembraneHelical%3B Name%3DS5 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251439_14607901940.0TransmembraneHelical%3B Name%3DS6 of repeat III
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251524_15417901940.0TransmembraneHelical%3B Name%3DS1 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251553_15717901940.0TransmembraneHelical%3B Name%3DS2 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251584_16017901940.0TransmembraneHelical%3B Name%3DS3 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251615_16317901940.0TransmembraneHelical%3B Name%3DS4 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251651_16687901940.0TransmembraneHelical%3B Name%3DS5 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+13251743_17657901940.0TransmembraneHelical%3B Name%3DS6 of repeat IV
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325784_8037901940.0TransmembraneHelical%3B Name%3DS2 of repeat II
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325818_8377901940.0TransmembraneHelical%3B Name%3DS3 of repeat II
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325840_8577901940.0TransmembraneHelical%3B Name%3DS4 of repeat II
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325874_8927901940.0TransmembraneHelical%3B Name%3DS5 of repeat II
HgeneSCN8Achr12:52145377chr12:81851645ENST00000545061+1325956_9767901940.0TransmembraneHelical%3B Name%3DS6 of repeat II
TgenePPFIA2chr12:52145377chr12:81851645ENST0000054858623129_1541011252.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST0000054932513129_154831233.0Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST0000054939633329_1541011700.6666666666667Coiled coilOntology_term=ECO:0000255
TgenePPFIA2chr12:52145377chr12:81851645ENST0000055294823029_1541011237.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for SCN8A-PPFIA2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>79696_79696_1_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000354534_PPFIA2_chr12_81851645_ENST00000549325_length(transcript)=6753nt_BP=2548nt
GAGCGCTCCAAGATGGCGCCCACCGCAGTCCCGCCCGCCGCATCCTCGGCGCCTTTGCAGTCCGGCCGCGCCTCCCGGGCCCCGCGTTAG
GGCCGCCGCTGCCTCCCTCGCCGCCGCCGCTGCCAGCTGACCTGTCCTGGACGCAGCATAACTAACGAAGCTGCTGCAGGATGAGAAGAT
GGCAGCGCGGCTGCTTGCACCACCAGGCCCTGATAGTTTCAAGCCTTTCACCCCTGAGTCACTGGCAAACATTGAGAGGCGCATTGCTGA
GAGCAAGCTCAAGAAACCACCAAAGGCCGATGGCAGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAAGC
AGGGAAGAGTTTGCCTTTCATCTACGGGGACATCCCCCAAGGCCTGGTTGCAGTTCCCCTGGAGGACTTTGACCCATACTATTTGACGCA
GAAAACCTTTGTAGTATTAAACAGAGGGAAAACTCTCTTCAGATTTAGTGCCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTGAT
AAGAAGAATAGCTATTAAAATTTTGATACATTCAGTATTTAGCATGATCATTATGTGCACTATTTTGACCAACTGTGTATTCATGACTTT
TAGTAACCCTCCTGACTGGTCGAAGAATGTGGAGTACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGG
TTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAGATTTCAGTGTCATCATGATGGCGTATATAACAGAGTTTGT
AAACCTAGGCAATGTTTCAGCTCTACGCACTTTCAGGGTACTGAGGGCTTTGAAAACTATTTCGGTAATCCCAGGCCTGAAGACAATTGT
GGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCAGATGTGATGATCCTGACAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCA
GCTGTTCATGGGGAACCTTCGAAACAAGTGTGTTGTGTGGCCCATAAACTTCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGA
TTGGGAAGAGTATATCAACAATAAAACAAATTTCTACACAGTTCCTGGCATGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGG
GCAATGCCCAGAGGGATACCAGTGTATGAAAGCAGGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTT
GGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAATTGACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTT
CGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAAC
ACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAGGCTGCTGCGAT
GGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTC
TAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGA
TCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTC
CATCATGAATCAGTCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACC
TGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCT
CTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCC
CAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGG
GCGTCTCCTGCCAGAGGCTACAACTGAGGTGGAAATTAAGAAGAAAGGCCCTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTA
CGGGCGGAAGGACAGAATCAACAGTATAATGAGTGTTGTTACAAATACACTAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCGCC
ATGCTGGTATAAATTTGCCAACACTTTCCTCATCTGGGAGTGCCACCCCTACTGGATAAAACTGAAAGAGATTGTGAACTTGATAGTTAT
GGACCCTTTTGTGGATTTAGCCATCACCATCTGCATCGTCCTGAATACACTGTTTATGGCAATGGAGCACCATCCTATGACACCACAATT
TGAACATGTCTTGGCTGTAGGAAATCTGGAATTTGCTGCACTGACAAAAGAATTAAATGCCTGCAGGGAACAACTTCTAGAAAAGGAAGA
AGAAATCTCTGAACTTAAAGCTGAAAGAAACAACACAAGACTATTACTGGAGCATTTGGAGTGCCTTGTGTCACGACATGAAAGATCACT
AAGAATGACGGTGGTAAAACGGCAAGCCCAGTCTCCCTCAGGAGTATCCAGTGAAGTTGAAGTTCTCAAGGCACTGAAATCTTTGTTTGA
GCACCACAAGGCCTTGGATGAAAAGGTAAGGGAGCGACTGAGGGTTTCTTTAGAAAGAGTCTCTGCACTGGAAGAAGAACTAGCTGCTGC
TAATCAGGAGATTGTTGCCTTGCGTGAACAAAATGTTCATATACAAAGAAAAATGGCATCAAGCGAGGGATCCACAGAGTCAGAACATCT
TGAAGGGATGGAACCTGGACAGAAAGTCCATGAGAAGCGTTTGTCCAATGGTTCTATAGACTCAACCGATGAAACTAGTCAAATAGTTGA
ACTACAAGAATTGCTTGAAAAGCAAAACTATGAAATGGCCCAGATGAAAGAACGTTTAGCAGCCCTTTCTTCCCGAGTGGGAGAGGTGGA
ACAGGAAGCAGAGACAGCAAGAAAGGATCTCATTAAAACAGAAGAAATGAACACCAAGTATCAAAGGGACATTAGGGAGGCCATGGCACA
AAAGGAAGATATGGAAGAAAGAATTACAACCCTTGAAAAGCGTTACCTCAGTGCTCAGAGAGAATCTACCTCCATACATGACATGAATGA
TAAACTAGAAAATGAGTTAGCAAATAAAGAAGCTATCCTGCGGCAGATGGAAGAGAAAAACAGACAGTTACAAGAACGTCTTGAGCTAGC
TGAACAAAAGTTGCAGCAGACCATGAGAAAGGCTGAAACCTTGCCTGAAGTAGAGGCTGAACTGGCTCAGAGAATTGCAGCCCTAACCAA
GGCTGAAGAGAGACATGGAAATATTGAAGAACGTATGAGACATTTAGAGGGTCAACTTGAAGAGAAGAATCAAGAACTTCAAAGAGCTAG
GCAAAGAGAGAAAATGAATGAGGAGCATAACAAGAGATTATCGGATACGGTTGATAGACTTCTGACTGAATCCAATGAACGCCTACAACT
ACACTTAAAGGAAAGAATGGCTGCTCTAGAAGAAAAGAATGTTTTAATTCAAGAATCAGAAACTTTCAGAAAGAATCTTGAAGAATCTTT
ACATGATAAGGAAAGATTAGCAGAAGAAATTGAAAAGCTGAGATCTGAACTTGACCAATTGAAAATGAGAACTGGCTCTTTAATTGAACC
CACAATACCAAGAACTCATCTAGACACCTCAGCTGAGTTGCGGTACTCAGTGGGATCCCTAGTGGACAGCCAGTCTGATTACAGAACAAC
TAAAGTAATAAGAAGACCAAGGAGAGGCCGCATGGGTGTGCGAAGAGATGAGCCAAAGGTGAAATCTCTTGGGGATCACGAGTGGAATAG
AACTCAACAGATTGGAGTACTAAGCAGCCACCCTTTTGAAAGTGACACTGAAATGTCTGATATTGATGATGATGACAGAGAAACAATTTT
TAGCTCAATGGATCTTCTCTCTCCAAGTGGTCATTCCGATGCCCAGACGCTAGCCATGATGCTTCAGGAACAATTGGATGCCATCAACAA
AGAAATCAGGCTAATTCAGGAAGAAAAAGAATCTACAGAGTTGCGTGCTGAAGAAATTGAAAATAGAGTGGCTAGTGTGAGCCTCGAAGG
CCTGAATTTGGCAAGGGTCCACCCAGGTACCTCCATTACTGCCTCTGTTACAGCTTCATCGCTGGCCAGTTCATCTCCCCCCAGTGGACA
CTCAACTCCAAAGCTCACCCCTCGAAGCCCTGCCAGGGAAATGGATCGGATGGGAGTCATGACACTGCCAAGTGATCTGAGGAAACATCG
GAGAAAGATTGCAGTTGTGGAAGAAGATGGTCGAGAGGACAAAGCAACAATTAAATGTGAAACTTCTCCTCCTCCTACCCCTAGAGCCCT
CAGAATGACTCACACTCTCCCTTCTTCCTACCACAATGATGCTCGAAGTAGTTTATCTGTCTCTCTTGAGCCAGAAAGCCTCGGGCTTGG
TAGTGCCAACAGCAGCCAAGACTCTCTTCACAAAGCCCCCAAGAAGAAAGGAATCAAGTCTTCAATAGGACGTTTGTTTGGTAAAAAAGA
AAAAGCTCGACTTGGGCAGCTCCGAGGCTTTATGGAGACTGAAGCTGCAGCTCAGGAGTCCCTGGGGTTAGGCAAACTCGGAACTCAAGC
TGAGAAGGATCGAAGACTAAAGAAAAACACATCTGGGCATGAACTTCTTGAAGAAGCTCGGAGAAAGGGATTACCTTTTGCCCAGTGGGA
TGGGCCAACTGTGGTCGCATGGCTAGAGCTTTGGTTGGGAATGCCTGCGTGGTACGTGGCAGCCTGCCGAGCCAACGTGAAGAGTGGTGC
CATCATGTCTGCTTTATCTGACACTGAGATCCAGAGAGAAATTGGAATCAGCAATCCACTGCATCGCTTAAAACTTCGATTAGCAATCCA
GGAGATGGTTTCCCTAACAAGTCCTTCAGCTCCTCCAACATCTCGAACTCCTTCAGGCAACGTTTGGGTGACTCATGAAGAAATGGAAAA
TCTTGCAGCTCCAGCAAAAACGAAAGAATCTGAGGAAGGAAGCTGGGCCCAGTGTCCGGTTTTTCTACAGACCCTGGCTTATGGAGATAT
GAATCATGAGTGGATTGGAAATGAATGGCTTCCCAGCTTGGGGTTACCTCAGTACAGAAGTTACTTTATGGAATGCTTGGTAGATGCAAG
AATGTTAGATCACCTAACAAAAAAAGATCTCCGTGTCCATTTAAAAATGGTGGATAGTTTCCATCGAACAAGTTTACAATATGGAATTAT
GTGCTTAAAGAGGTTGAATTATGACAGAAAAGAACTAGAAAGAAGACGGGAAGCAAGCCAACATGAAATAAAAGACGTGTTGGTGTGGAG
CAATGACCGAGTTATTCGCTGGATACAAGCAATTGGACTTCGAGAATATGCAAATAATATACTTGAGAGCGGTGTGCATGGCTCACTTAT
AGCCCTGGATGAAAACTTTGACTACAGCAGCTTAGCTTTATTATTACAGATTCCAACACAGAACACCCAGGCAAGGCAGATTCTTGAAAG
AGAATACAATAACCTCTTGGCCCTGGGAACTGAAAGGCGACTGGATGAAAGTGATGACAAGAACTTCAGACGTGGATCAACCTGGAGAAG
GCAGTTTCCTCCTCGTGAAGTACATGGAATCAGCATGATGCCTGGGTCCTCAGAAACATTACCAGCTGGATTTAGGTTAACCACAACCTC
TGGGCAGTCAAGAAAAATGACAACAGATGATGGCGTCTTTTCAGTCTACTCTACCTAAAGTGCACTACCATCTAAGAAGACGAGCAGTGA
AAACCTTTGTGAAAACTGAATTCTAAGGAAATAATGACGTCATGACTTATTAAAAGCTGAAAAATGTGATTTTTGGGGGGAGTCAGATAT
TACATTTGATTAGTTTACTACAAATTGTAATAAAATGCTTAAGTCATTTGAATAATAAACATCATCTACATCATAAACTCTGTACAACAG
ATGCTTTTATGAAATGAAGCCAGTTGTTTTTCATGTTTTATTGTAATATACTAGGCATTTATGTATTACCGTGCATTTCTTTTTAAATGT
GTAAGTCTTATGTAAATGGATATAAATATGATTTTTTAAAAAATAAAATATATGGTTCATGGAGTCTCGAGTGCAAACATTTGACAATTC
CAAGTACTGTTTGTATTTTACCATTCCACCATTTTTACAGTTTTTGGATTGTTAATAGTCAAATCAATATGTTTCCTTGAAGCATGTTTC
ATGCTTCAACGTGTTTCTCCTTCAAGTCTGTCAATACTTAAAGCTGAACAACCTGCCTCTGATCATGTAAAAAAGAATGATTTAACCTGG
AACCGGAGCCAAAAATAGAGCTTTAAAGGCAATCAGGGATGTCCTATATCTTTAGAAATAGCACTGTGATGGCTTGATCTCCTTTTCAAT
ACAAAACAAAGCCAAGCTGTTTACAAGGGTCAAAAGCAATTATTTAAAAATTTATATTAAAAAACCATAATCTTCTCTTGTTACCTGTGG

>79696_79696_1_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000354534_PPFIA2_chr12_81851645_ENST00000549325_length(amino acids)=1945AA_BP=796
MLQDEKMAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDF
DPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESL
VKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSV
FALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFD
TFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQE
EAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDN
RIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGS
RSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEE
SQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLEFAALTKELNACRE
QLLEKEEEISELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRVSLERVSAL
EEELAAANQEIVALREQNVHIQRKMASSEGSTESEHLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALS
SRVGEVEQEAETARKDLIKTEEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDMNDKLENELANKEAILRQMEEKNRQL
QERLELAEQKLQQTMRKAETLPEVEAELAQRIAALTKAEERHGNIEERMRHLEGQLEEKNQELQRARQREKMNEEHNKRLSDTVDRLLTE
SNERLQLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKLRSELDQLKMRTGSLIEPTIPRTHLDTSAELRYSVGSLVDS
QSDYRTTKVIRRPRRGRMGVRRDEPKVKSLGDHEWNRTQQIGVLSSHPFESDTEMSDIDDDDRETIFSSMDLLSPSGHSDAQTLAMMLQE
QLDAINKEIRLIQEEKESTELRAEEIENRVASVSLEGLNLARVHPGTSITASVTASSLASSSPPSGHSTPKLTPRSPAREMDRMGVMTLP
SDLRKHRRKIAVVEEDGREDKATIKCETSPPPTPRALRMTHTLPSSYHNDARSSLSVSLEPESLGLGSANSSQDSLHKAPKKKGIKSSIG
RLFGKKEKARLGQLRGFMETEAAAQESLGLGKLGTQAEKDRRLKKNTSGHELLEEARRKGLPFAQWDGPTVVAWLELWLGMPAWYVAACR
ANVKSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPPTSRTPSGNVWVTHEEMENLAAPAKTKESEEGSWAQCPVFLQ
TLAYGDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRVHLKMVDSFHRTSLQYGIMCLKRLNYDRKELERRREASQHEI
KDVLVWSNDRVIRWIQAIGLREYANNILESGVHGSLIALDENFDYSSLALLLQIPTQNTQARQILEREYNNLLALGTERRLDESDDKNFR

--------------------------------------------------------------
>79696_79696_2_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000354534_PPFIA2_chr12_81851645_ENST00000549396_length(transcript)=7447nt_BP=2548nt
GAGCGCTCCAAGATGGCGCCCACCGCAGTCCCGCCCGCCGCATCCTCGGCGCCTTTGCAGTCCGGCCGCGCCTCCCGGGCCCCGCGTTAG
GGCCGCCGCTGCCTCCCTCGCCGCCGCCGCTGCCAGCTGACCTGTCCTGGACGCAGCATAACTAACGAAGCTGCTGCAGGATGAGAAGAT
GGCAGCGCGGCTGCTTGCACCACCAGGCCCTGATAGTTTCAAGCCTTTCACCCCTGAGTCACTGGCAAACATTGAGAGGCGCATTGCTGA
GAGCAAGCTCAAGAAACCACCAAAGGCCGATGGCAGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAAGC
AGGGAAGAGTTTGCCTTTCATCTACGGGGACATCCCCCAAGGCCTGGTTGCAGTTCCCCTGGAGGACTTTGACCCATACTATTTGACGCA
GAAAACCTTTGTAGTATTAAACAGAGGGAAAACTCTCTTCAGATTTAGTGCCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTGAT
AAGAAGAATAGCTATTAAAATTTTGATACATTCAGTATTTAGCATGATCATTATGTGCACTATTTTGACCAACTGTGTATTCATGACTTT
TAGTAACCCTCCTGACTGGTCGAAGAATGTGGAGTACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGG
TTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAGATTTCAGTGTCATCATGATGGCGTATATAACAGAGTTTGT
AAACCTAGGCAATGTTTCAGCTCTACGCACTTTCAGGGTACTGAGGGCTTTGAAAACTATTTCGGTAATCCCAGGCCTGAAGACAATTGT
GGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCAGATGTGATGATCCTGACAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCA
GCTGTTCATGGGGAACCTTCGAAACAAGTGTGTTGTGTGGCCCATAAACTTCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGA
TTGGGAAGAGTATATCAACAATAAAACAAATTTCTACACAGTTCCTGGCATGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGG
GCAATGCCCAGAGGGATACCAGTGTATGAAAGCAGGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTT
GGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAATTGACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTT
CGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAAC
ACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAGGCTGCTGCGAT
GGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTC
TAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGA
TCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTC
CATCATGAATCAGTCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACC
TGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCT
CTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCC
CAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGG
GCGTCTCCTGCCAGAGGCTACAACTGAGGTGGAAATTAAGAAGAAAGGCCCTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTA
CGGGCGGAAGGACAGAATCAACAGTATAATGAGTGTTGTTACAAATACACTAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCGCC
ATGCTGGTATAAATTTGCCAACACTTTCCTCATCTGGGAGTGCCACCCCTACTGGATAAAACTGAAAGAGATTGTGAACTTGATAGTTAT
GGACCCTTTTGTGGATTTAGCCATCACCATCTGCATCGTCCTGAATACACTGTTTATGGCAATGGAGCACCATCCTATGACACCACAATT
TGAACATGTCTTGGCTGTAGGAAATCTGGAATTTGCTGCACTGACAAAAGAATTAAATGCCTGCAGGGAACAACTTCTAGAAAAGGAAGA
AGAAATCTCTGAACTTAAAGCTGAAAGAAACAACACAAGACTATTACTGGAGCATTTGGAGTGCCTTGTGTCACGACATGAAAGATCACT
AAGAATGACGGTGGTAAAACGGCAAGCCCAGTCTCCCTCAGGAGTATCCAGTGAAGTTGAAGTTCTCAAGGCACTGAAATCTTTGTTTGA
GCACCACAAGGCCTTGGATGAAAAGGTAAGGGAGCGACTGAGGGTTTCTTTAGAAAGAGTCTCTGCACTGGAAGAAGAACTAGCTGCTGC
TAATCAGGAGATTGTTGCCTTGCGTGAACAAAATGTTCATATACAAAGAAAAATGGCATCAAGCGAGGGATCCACAGAGTCAGAACATCT
TGAAGGGATGGAACCTGGACAGAAAGTCCATGAGAAGCGTTTGTCCAATGGTTCTATAGACTCAACCGATGAAACTAGTCAAATAGTTGA
ACTACAAGAATTGCTTGAAAAGCAAAACTATGAAATGGCCCAGATGAAAGAACGTTTAGCAGCCCTTTCTTCCCGAGTGGGAGAGGTGGA
ACAGGAAGCAGAGACAGCAAGAAAGGATCTCATTAAAACAGAAGAAATGAACACCAAGTATCAAAGGGACATTAGGGAGGCCATGGCACA
AAAGGAAGATATGGAAGAAAGAATTACAACCCTTGAAAAGCGTTACCTCAGTGCTCAGAGAGAATCTACCTCCATACATGACATGAATGA
TAAACTAGAAAATGAGTTAGCAAATAAAGAAGCTATCCTGCGGCAGATGGAAGAGAAAAACAGACAGTTACAAGAACGTCTTGAGCTAGC
TGAACAAAAGTTGCAGCAGACCATGAGAAAGGCTGAAACCTTGCCTGAAGTAGAGGCTGAACTGGCTCAGAGAATTGCAGCCCTAACCAA
GGCTGAAGAGAGACATGGAAATATTGAAGAACGTATGAGACATTTAGAGGGTCAACTTGAAGAGAAGAATCAAGAACTTCAAAGAGCTAG
GCAAAGAGAGAAAATGAATGAGGAGCATAACAAGAGATTATCGGATACGGTTGATAGACTTCTGACTGAATCCAATGAACGCCTACAACT
ACACTTAAAGGAAAGAATGGCTGCTCTAGAAGAAAAGAATGTTTTAATTCAAGAATCAGAAACTTTCAGAAAGAATCTTGAAGAATCTTT
ACATGATAAGGAAAGATTAGCAGAAGAAATTGAAAAGCTGAGATCTGAACTTGACCAATTGAAAATGAGAACTGGCTCTTTAATTGAACC
CACAATACCAAGAACTCATCTAGACACCTCAGCTGAGTTGCGGTACTCAGTGGGATCCCTAGTGGACAGCCAGTCTGATTACAGAACAAC
TAAAGTAATAAGAAGACCAAGGAGAGGCCGCATGGGTGTGCGAAGAGATGAGCCAAAGGTGAAATCTCTTGGGGATCACGAGTGGAATAG
AACTCAACAGATTGGAGTACTAAGCAGCCACCCTTTTGAAAGTGACACTGAAATGTCTGATATTGATGATGATGACAGAGAAACAATTTT
TAGCTCAATGGATCTTCTCTCTCCAAGTGGTCATTCCGATGCCCAGACGCTAGCCATGATGCTTCAGGAACAATTGGATGCCATCAACAA
AGAAATCAGGCTAATTCAGGAAGAAAAAGAATCTACAGAGTTGCGTGCTGAAGAAATTGAAAATAGAGTGGCTAGTGTGAGCCTCGAAGG
CCTGAATTTGGCAAGGGTCCACCCAGGTACCTCCATTACTGCCTCTGTTACAGCTTCATCGCTGGCCAGTTCATCTCCCCCCAGTGGACA
CTCAACTCCAAAGCTCACCCCTCGAAGCCCTGCCAGGGAAATGGATCGGATGGGAGTCATGACACTGCCAAGTGATCTGAGGAAACATCG
GAGAAAGATTGCAGTTGTGGAAGAAGATGGTCGAGAGGACAAAGCAACAATTAAATGTGAAACTTCTCCTCCTCCTACCCCTAGAGCCCT
CAGAATGACTCACACTCTCCCTTCTTCCTACCACAATGATGCTCGAAGTAGTTTATCTGTCTCTCTTGAGCCAGAAAGCCTCGGGCTTGG
TAGTGCCAACAGCAGCCAAGACTCTCTTCACAAAGCCCCCAAGAAGAAAGGAATCAAGTCTTCAATAGGACGTTTGTTTGGTAAAAAAGA
AAAAGCTCGACTTGGGCAGCTCCGAGGCTTTATGGAGACTGAAGCTGCAGCTCAGGAGTCCCTGGGGTTAGGCAAACTCGGAACTCAAGC
TGAGAAGGATCGAAGACTAAAGAAAAAGCATGAACTTCTTGAAGAAGCTCGGAGAAAGGGATTACCTTTTGCCCAGTGGGATGGGCCAAC
TGTGGTCGCATGGCTAGAGCTTTGGTTGGGAATGCCTGCGTGGTACGTGGCAGCCTGCCGAGCCAACGTGAAGAGTGGTGCCATCATGTC
TGCTTTATCTGACACTGAGATCCAGAGAGAAATTGGAATCAGCAATCCACTGCATCGCTTAAAACTTCGATTAGCAATCCAGGAGATGGT
TTCCCTAACAAGTCCTTCAGCTCCTCCAACATCTCGAACTCCTTCAGGCAACGTTTGGGTGACTCATGAAGAAATGGAAAATCTTGCAGC
TCCAGCAAAAACGAAAGAATCTGAGGAAGGAAGCTGGGCCCAGTGTCCGGTTTTTCTACAGACCCTGGCTTATGGAGATATGAATCATGA
GTGGATTGGAAATGAATGGCTTCCCAGCTTGGGGTTACCTCAGTACAGAAGTTACTTTATGGAATGCTTGGTAGATGCAAGAATGTTAGA
TCACCTAACAAAAAAAGATCTCCGTGTCCATTTAAAAATGGTGGATAGTTTCCATCGAACAAGTTTACAATATGGAATTATGTGCTTAAA
GAGGTTGAATTATGACAGAAAAGAACTAGAAAGAAGACGGGAAGCAAGCCAACATGAAATAAAAGACGTGTTGGTGTGGAGCAATGACCG
AGTTATTCGCTGGATACAAGCAATTGGACTTCGAGAATATGCAAATAATATACTTGAGAGCGGTGTGCATGGCTCACTTATAGCCCTGGA
TGAAAACTTTGACTACAGCAGCTTAGCTTTATTATTACAGATTCCAACACAGAACACCCAGGCAAGGCAGATTCTTGAAAGAGAATACAA
TAACCTCTTGGCCCTGGGAACTGAAAGGCGACTGGATGAAAGTGATGACAAGAACTTCAGACGTGGATCAACCTGGAGAAGGCAGTTTCC
TCCTCGTGAAGTACATGGAATCAGCATGATGCCTGGGTCCTCAGAAACATTACCAGCTGGATTTAGGTTAACCACAACCTCTGGGCAGTC
AAGAAAAATGACAACAGATGTTGCTTCATCAAGACTGCAGAGGTTAGACAACTCCACTGTTCGCACATACTCATGTTGACCAGCCACTCA
AAGGAGGCAGCACTGACCTGCTATGGCGTCTTTTCAGTCTACTCTACCTAAAGTGCACTACCATCTAAGAAGACGAGCAGTGAAAACCTT
TGTGAAAACTGAATTCTAAGGAAATAATGACGTCATGACTTATTAAAAGCTGAAAAATGTGATTTTTGGGGGGAGTCAGATATTACATTT
GATTAGTTTACTACAAATTGTAATAAAATGCTTAAGTCATTTGAATAATAAACATCATCTACATCATAAACTCTGTACAACAGATGCTTT
TATGAAATGAAGCCAGTTGTTTTTCATGTTTTATTGTAATATACTAGGCATTTATGTATTACCGTGCATTTCTTTTTAAATGTGTAAGTC
TTATGTAAATGGATATAAATATGATTTTTTAAAAAATAAAATATATGGTTCATGGAGTCTCGAGTGCAAACATTTGACAATTCCAAGTAC
TGTTTGTATTTTACCATTCCACCATTTTTACAGTTTTTGGATTGTTAATAGTCAAATCAATATGTTTCCTTGAAGCATGTTTCATGCTTC
AACGTGTTTCTCCTTCAAGTCTGTCAATACTTAAAGCTGAACAACCTGCCTCTGATCATGTAAAAAAGAATGATTTAACCTGGAACCGGA
GCCAAAAATAGAGCTTTAAAGGCAATCAGGGATGTCCTATATCTTTAGAAATAGCACTGTGATGGCTTGATCTCCTTTTCAATACAAAAC
AAAGCCAAGCTGTTTACAAGGGTCAAAAGCAATTATTTAAAAATTTATATTAAAAAACCATAATCTTCTCTTGTTACCTGTGGACCAAGA
AAAAAAAAAAGATAAAAAAACTTCTTTACTAAGAACCACATGTTCATTCAAATATCTTGAAATGCCAGCCAGTACTGGACAGTGAATGTC
AACCACCGCAGAGTCTGAGGCTCATTTCCACTAGAGAAAACGAAACCCAAGATACCTTTCCCTTTTGTCAATGTAACAGGGCATTAGCCA
GACTCATGTCTAATGTTATAAGCTTTTAGCCGAGATGGCCTTGTTGCGACTTCCCTGAAGTCAGTTTTATCAGAGGAAATAAATGAAAGA
CAGAATGATTAACATATATAGTGTATAAAAGTATAGAAGAGTAATCTCTTCCCTGTGGCTTTATTTGGTGGTGTTACTGTTGTTTATTCT
TTGTTTATATGGGAGATTCAAAGTAAAGCCTATTTAATAATACCATTTATCTAACTGCTGATTTTCTGCTGCTTGATCTTATTAAGCGCA
AGACCTGTCATTAGTAATTTCTTTTCTGTATTTTAATTTGCTATGTTTGCACGTACATTACATTTGTTTTGATGTCTATTTTTATTTAAC

>79696_79696_2_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000354534_PPFIA2_chr12_81851645_ENST00000549396_length(amino acids)=1952AA_BP=796
MLQDEKMAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDF
DPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESL
VKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSV
FALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFD
TFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQE
EAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDN
RIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGS
RSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEE
SQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLEFAALTKELNACRE
QLLEKEEEISELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRVSLERVSAL
EEELAAANQEIVALREQNVHIQRKMASSEGSTESEHLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALS
SRVGEVEQEAETARKDLIKTEEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDMNDKLENELANKEAILRQMEEKNRQL
QERLELAEQKLQQTMRKAETLPEVEAELAQRIAALTKAEERHGNIEERMRHLEGQLEEKNQELQRARQREKMNEEHNKRLSDTVDRLLTE
SNERLQLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKLRSELDQLKMRTGSLIEPTIPRTHLDTSAELRYSVGSLVDS
QSDYRTTKVIRRPRRGRMGVRRDEPKVKSLGDHEWNRTQQIGVLSSHPFESDTEMSDIDDDDRETIFSSMDLLSPSGHSDAQTLAMMLQE
QLDAINKEIRLIQEEKESTELRAEEIENRVASVSLEGLNLARVHPGTSITASVTASSLASSSPPSGHSTPKLTPRSPAREMDRMGVMTLP
SDLRKHRRKIAVVEEDGREDKATIKCETSPPPTPRALRMTHTLPSSYHNDARSSLSVSLEPESLGLGSANSSQDSLHKAPKKKGIKSSIG
RLFGKKEKARLGQLRGFMETEAAAQESLGLGKLGTQAEKDRRLKKKHELLEEARRKGLPFAQWDGPTVVAWLELWLGMPAWYVAACRANV
KSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPPTSRTPSGNVWVTHEEMENLAAPAKTKESEEGSWAQCPVFLQTLA
YGDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRVHLKMVDSFHRTSLQYGIMCLKRLNYDRKELERRREASQHEIKDV
LVWSNDRVIRWIQAIGLREYANNILESGVHGSLIALDENFDYSSLALLLQIPTQNTQARQILEREYNNLLALGTERRLDESDDKNFRRGS

--------------------------------------------------------------
>79696_79696_3_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000354534_PPFIA2_chr12_81851645_ENST00000550584_length(transcript)=7354nt_BP=2548nt
GAGCGCTCCAAGATGGCGCCCACCGCAGTCCCGCCCGCCGCATCCTCGGCGCCTTTGCAGTCCGGCCGCGCCTCCCGGGCCCCGCGTTAG
GGCCGCCGCTGCCTCCCTCGCCGCCGCCGCTGCCAGCTGACCTGTCCTGGACGCAGCATAACTAACGAAGCTGCTGCAGGATGAGAAGAT
GGCAGCGCGGCTGCTTGCACCACCAGGCCCTGATAGTTTCAAGCCTTTCACCCCTGAGTCACTGGCAAACATTGAGAGGCGCATTGCTGA
GAGCAAGCTCAAGAAACCACCAAAGGCCGATGGCAGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAAGC
AGGGAAGAGTTTGCCTTTCATCTACGGGGACATCCCCCAAGGCCTGGTTGCAGTTCCCCTGGAGGACTTTGACCCATACTATTTGACGCA
GAAAACCTTTGTAGTATTAAACAGAGGGAAAACTCTCTTCAGATTTAGTGCCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTGAT
AAGAAGAATAGCTATTAAAATTTTGATACATTCAGTATTTAGCATGATCATTATGTGCACTATTTTGACCAACTGTGTATTCATGACTTT
TAGTAACCCTCCTGACTGGTCGAAGAATGTGGAGTACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGG
TTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAGATTTCAGTGTCATCATGATGGCGTATATAACAGAGTTTGT
AAACCTAGGCAATGTTTCAGCTCTACGCACTTTCAGGGTACTGAGGGCTTTGAAAACTATTTCGGTAATCCCAGGCCTGAAGACAATTGT
GGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCAGATGTGATGATCCTGACAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCA
GCTGTTCATGGGGAACCTTCGAAACAAGTGTGTTGTGTGGCCCATAAACTTCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGA
TTGGGAAGAGTATATCAACAATAAAACAAATTTCTACACAGTTCCTGGCATGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGG
GCAATGCCCAGAGGGATACCAGTGTATGAAAGCAGGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTT
GGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAATTGACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTT
CGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAAC
ACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAGGCTGCTGCGAT
GGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTC
TAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGA
TCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTC
CATCATGAATCAGTCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACC
TGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCT
CTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCC
CAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGG
GCGTCTCCTGCCAGAGGCTACAACTGAGGTGGAAATTAAGAAGAAAGGCCCTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTA
CGGGCGGAAGGACAGAATCAACAGTATAATGAGTGTTGTTACAAATACACTAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCGCC
ATGCTGGTATAAATTTGCCAACACTTTCCTCATCTGGGAGTGCCACCCCTACTGGATAAAACTGAAAGAGATTGTGAACTTGATAGTTAT
GGACCCTTTTGTGGATTTAGCCATCACCATCTGCATCGTCCTGAATACACTGTTTATGGCAATGGAGCACCATCCTATGACACCACAATT
TGAACATGTCTTGGCTGTAGGAAATCTGGAATTTGCTGCACTGACAAAAGAATTAAATGCCTGCAGGGAACAACTTCTAGAAAAGGAAGA
AGAAATCTCTGAACTTAAAGCTGAAAGAAACAACACAAGACTATTACTGGAGCATTTGGAGTGCCTTGTGTCACGACATGAAAGATCACT
AAGAATGACGGTGGTAAAACGGCAAGCCCAGTCTCCCTCAGGAGTATCCAGTGAAGTTGAAGTTCTCAAGGCACTGAAATCTTTGTTTGA
GCACCACAAGGCCTTGGATGAAAAGGTAAGGGAGCGACTGAGGGTTTCTTTAGAAAGAGTCTCTGCACTGGAAGAAGAACTAGCTGCTGC
TAATCAGGAGATTGTTGCCTTGCGTGAACAAAATGTTCATATACAAAGAAAAATGGCATCAAGCGAGGGATCCACAGAGTCAGAACATCT
TGAAGGGATGGAACCTGGACAGAAAGTCCATGAGAAGCGTTTGTCCAATGGTTCTATAGACTCAACCGATGAAACTAGTCAAATAGTTGA
ACTACAAGAATTGCTTGAAAAGCAAAACTATGAAATGGCCCAGATGAAAGAACGTTTAGCAGCCCTTTCTTCCCGAGTGGGAGAGGTGGA
ACAGGAAGCAGAGACAGCAAGAAAGGATCTCATTAAAACAGAAGAAATGAACACCAAGTATCAAAGGGACATTAGGGAGGCCATGGCACA
AAAGGAAGATATGGAAGAAAGAATTACAACCCTTGAAAAGCGTTACCTCAGTGCTCAGAGAGAATCTACCTCCATACATGACATGAATGA
TAAACTAGAAAATGAGTTAGCAAATAAAGAAGCTATCCTGCGGCAGATGGAAGAGAAAAACAGACAGTTACAAGAACGTCTTGAGCTAGC
TGAACAAAAGTTGCAGCAGACCATGAGAAAGGCTGAAACCTTGCCTGAAGTAGAGGCTGAACTGGCTCAGAGAATTGCAGCCCTAACCAA
GGCTGAAGAGAGACATGGAAATATTGAAGAACGTATGAGACATTTAGAGGGTCAACTTGAAGAGAAGAATCAAGAACTTCAAAGAGCTAG
GCAAAGAGAGAAAATGAATGAGGAGCATAACAAGAGATTATCGGATACGGTTGATAGACTTCTGACTGAATCCAATGAACGCCTACAACT
ACACTTAAAGGAAAGAATGGCTGCTCTAGAAGAAAAGAATGTTTTAATTCAAGAATCAGAAACTTTCAGAAAGAATCTTGAAGAATCTTT
ACATGATAAGGAAAGATTAGCAGAAGAAATTGAAAAGCTGAGATCTGAACTTGACCAATTGAAAATGAGAACTGGCTCTTTAATTGAACC
CACAATACCAAGAACTCATCTAGACACCTCAGCTGAGTTGCGGTACTCAGTGGGATCCCTAGTGGACAGCCAGTCTGATTACAGAACAAC
TAAAGTAATAAGAAGACCAAGGAGAGGCCGCATGGGTGTGCGAAGAGATGAGCCAAAGGTGAAATCTCTTGGGGATCACGAGTGGAATAG
AACTCAACAGATTGGAGTACTAAGCAGCCACCCTTTTGAAAGTGACACTGAAATGTCTGATATTGATGATGATGACAGAGAAACAATTTT
TAGCTCAATGGATCTTCTCTCTCCAAGTGGTCATTCCGATGCCCAGACGCTAGCCATGATGCTTCAGGAACAATTGGATGCCATCAACAA
AGAAATCAGGCTAATTCAGGAAGAAAAAGAATCTACAGAGTTGCGTGCTGAAGAAATTGAAAATAGAGTGGCTAGTGTGAGCCTCGAAGG
CCTGAATTTGGCAAGGGTCCACCCAGGTACCTCCATTACTGCCTCTGTTACAGCTTCATCGCTGGCCAGTTCATCTCCCCCCAGTGGACA
CTCAACTCCAAAGCTCACCCCTCGAAGCCCTGCCAGGGAAATGGATCGGATGGGAGTCATGACACTGCCAAGTGATCTGAGGAAACATCG
GAGAAAGATTGCAGTTGTGGAAGAAGATGGTCGAGAGGACAAAGCAACAATTAAATGTGAAACTTCTCCTCCTCCTACCCCTAGAGCCCT
CAGAATGACTCACACTCTCCCTTCTTCCTACCACAATGATGCTCGAAGTAGTTTATCTGTCTCTCTTGAGCCAGAAAGCCTCGGGCTTGG
TAGTGCCAACAGCAGCCAAGACTCTCTTCACAAAGCCCCCAAGAAGAAAGGAATCAAGTCTTCAATAGGACGTTTGTTTGGTAAAAAAGA
AAAAGCTCGACTTGGGCAGCTCCGAGGCTTTATGGAGACTGAAGCTGCAGCTCAGGAGTCCCTGGGGTTAGGCAAACTCGGAACTCAAGC
TGAGAAGGATCGAAGACTAAAGAAAAAGCATGAACTTCTTGAAGAAGCTCGGAGAAAGGGATTACCTTTTGCCCAGTGGGATGGGCCAAC
TGTGGTCGCATGGCTAGAGCTTTGGTTGGGAATGCCTGCGTGGTACGTGGCAGCCTGCCGAGCCAACGTGAAGAGTGGTGCCATCATGTC
TGCTTTATCTGACACTGAGATCCAGAGAGAAATTGGAATCAGCAATCCACTGCATCGCTTAAAACTTCGATTAGCAATCCAGGAGATGGT
TTCCCTAACAAGTCCTTCAGCTCCTCCAACATCTCGAACTCCTTCAGGCAACGTTTGGGTGACTCATGAAGAAATGGAAAATCTTGCAGC
TCCAGCAAAAACGAAAGAATCTGAGGAAGGAAGCTGGGCCCAGTGTCCGGTTTTTCTACAGACCCTGGCTTATGGAGATATGAATCATGA
GTGGATTGGAAATGAATGGCTTCCCAGCTTGGGGTTACCTCAGTACAGAAGTTACTTTATGGAATGCTTGGTAGATGCAAGAATGTTAGA
TCACCTAACAAAAAAAGATCTCCGTGTCCATTTAAAAATGGTGGATAGTTTCCATCGAACAAGTTTACAATATGGAATTATGTGCTTAAA
GAGGTTGAATTATGACAGAAAAGAACTAGAAAGAAGACGGGAAGCAAGCCAACATGAAATAAAAGACGTGTTGGTGTGGAGCAATGACCG
AGTTATTCGCTGGATACAAGCAATTGGACTTCGAGAATATGCAAATAATATACTTGAGAGCGGTGTGCATGGCTCACTTATAGCCCTGGA
TGAAAACTTTGACTACAGCAGCTTAGCTTTATTATTACAGATTCCAACACAGAACACCCAGGCAAGGCAGATTCTTGAAAGAGAATACAA
TAACCTCTTGGCCCTGGGAACTGAAAGGCGACTGGATGAAAGTGATGACAAGAACTTCAGACGTGGATCAACCTGGAGAAGGCAGTTTCC
TCCTCGTGAAGTACATGGAATCAGCATGATGCCTGGGTCCTCAGAAACATTACCAGCTGGATTTAGGTTAACCACAACCTCTGGGCAGTC
AAGAAAAATGACAACAGATGATGGCGTCTTTTCAGTCTACTCTACCTAAAGTGCACTACCATCTAAGAAGACGAGCAGTGAAAACCTTTG
TGAAAACTGAATTCTAAGGAAATAATGACGTCATGACTTATTAAAAGCTGAAAAATGTGATTTTTGGGGGGAGTCAGATATTACATTTGA
TTAGTTTACTACAAATTGTAATAAAATGCTTAAGTCATTTGAATAATAAACATCATCTACATCATAAACTCTGTACAACAGATGCTTTTA
TGAAATGAAGCCAGTTGTTTTTCATGTTTTATTGTAATATACTAGGCATTTATGTATTACCGTGCATTTCTTTTTAAATGTGTAAGTCTT
ATGTAAATGGATATAAATATGATTTTTTAAAAAATAAAATATATGGTTCATGGAGTCTCGAGTGCAAACATTTGACAATTCCAAGTACTG
TTTGTATTTTACCATTCCACCATTTTTACAGTTTTTGGATTGTTAATAGTCAAATCAATATGTTTCCTTGAAGCATGTTTCATGCTTCAA
CGTGTTTCTCCTTCAAGTCTGTCAATACTTAAAGCTGAACAACCTGCCTCTGATCATGTAAAAAAGAATGATTTAACCTGGAACCGGAGC
CAAAAATAGAGCTTTAAAGGCAATCAGGGATGTCCTATATCTTTAGAAATAGCACTGTGATGGCTTGATCTCCTTTTCAATACAAAACAA
AGCCAAGCTGTTTACAAGGGTCAAAAGCAATTATTTAAAAATTTATATTAAAAAACCATAATCTTCTCTTGTTACCTGTGGACCAAGAAA
AAAAAAAAGATAAAAAAACTTCTTTACTAAGAACCACATGTTCATTCAAATATCTTGAAATGCCAGCCAGTACTGGACAGTGAATGTCAA
CCACCGCAGAGTCTGAGGCTCATTTCCACTAGAGAAAACGAAACCCAAGATACCTTTCCCTTTTGTCAATGTAACAGGGCATTAGCCAGA
CTCATGTCTAATGTTATAAGCTTTTAGCCGAGATGGCCTTGTTGCGACTTCCCTGAAGTCAGTTTTATCAGAGGAAATAAATGAAAGACA
GAATGATTAACATATATAGTGTATAAAAGTATAGAAGAGTAATCTCTTCCCTGTGGCTTTATTTGGTGGTGTTACTGTTGTTTATTCTTT
GTTTATATGGGAGATTCAAAGTAAAGCCTATTTAATAATACCATTTATCTAACTGCTGATTTTCTGCTGCTTGATCTTATTAAGCGCAAG
ACCTGTCATTAGTAATTTCTTTTCTGTATTTTAATTTGCTATGTTTGCACGTACATTACATTTGTTTTGATGTCTATTTTTATTTAACAG

>79696_79696_3_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000354534_PPFIA2_chr12_81851645_ENST00000550584_length(amino acids)=1942AA_BP=796
MLQDEKMAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDF
DPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESL
VKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSV
FALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFD
TFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQE
EAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDN
RIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGS
RSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEE
SQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLEFAALTKELNACRE
QLLEKEEEISELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRVSLERVSAL
EEELAAANQEIVALREQNVHIQRKMASSEGSTESEHLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALS
SRVGEVEQEAETARKDLIKTEEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDMNDKLENELANKEAILRQMEEKNRQL
QERLELAEQKLQQTMRKAETLPEVEAELAQRIAALTKAEERHGNIEERMRHLEGQLEEKNQELQRARQREKMNEEHNKRLSDTVDRLLTE
SNERLQLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKLRSELDQLKMRTGSLIEPTIPRTHLDTSAELRYSVGSLVDS
QSDYRTTKVIRRPRRGRMGVRRDEPKVKSLGDHEWNRTQQIGVLSSHPFESDTEMSDIDDDDRETIFSSMDLLSPSGHSDAQTLAMMLQE
QLDAINKEIRLIQEEKESTELRAEEIENRVASVSLEGLNLARVHPGTSITASVTASSLASSSPPSGHSTPKLTPRSPAREMDRMGVMTLP
SDLRKHRRKIAVVEEDGREDKATIKCETSPPPTPRALRMTHTLPSSYHNDARSSLSVSLEPESLGLGSANSSQDSLHKAPKKKGIKSSIG
RLFGKKEKARLGQLRGFMETEAAAQESLGLGKLGTQAEKDRRLKKKHELLEEARRKGLPFAQWDGPTVVAWLELWLGMPAWYVAACRANV
KSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPPTSRTPSGNVWVTHEEMENLAAPAKTKESEEGSWAQCPVFLQTLA
YGDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRVHLKMVDSFHRTSLQYGIMCLKRLNYDRKELERRREASQHEIKDV
LVWSNDRVIRWIQAIGLREYANNILESGVHGSLIALDENFDYSSLALLLQIPTQNTQARQILEREYNNLLALGTERRLDESDDKNFRRGS

--------------------------------------------------------------
>79696_79696_4_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000545061_PPFIA2_chr12_81851645_ENST00000549325_length(transcript)=6629nt_BP=2424nt
AGCTGACCTGTCCTGGACGCAGCATAACTAACGAAGCTGCTGCAGGATGAGAAGATGGCAGCGCGGCTGCTTGCACCACCAGGCCCTGAT
AGTTTCAAGCCTTTCACCCCTGAGTCACTGGCAAACATTGAGAGGCGCATTGCTGAGAGCAAGCTCAAGAAACCACCAAAGGCCGATGGC
AGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAAGCAGGGAAGAGTTTGCCTTTCATCTACGGGGACATC
CCCCAAGGCCTGGTTGCAGTTCCCCTGGAGGACTTTGACCCATACTATTTGACGCAGAAAACCTTTGTAGTATTAAACAGAGGGAAAACT
CTCTTCAGATTTAGTGCCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTGATAAGAAGAATAGCTATTAAAATTTTGATACATTCA
GTATTTAGCATGATCATTATGTGCACTATTTTGACCAACTGTGTATTCATGACTTTTAGTAACCCTCCTGACTGGTCGAAGAATGTGGAG
TACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGGTTTCTGCATAGATGGCTTTACCTTTTTACGGGAC
CCATGGAACTGGTTAGATTTCAGTGTCATCATGATGGCGTATATAACAGAGTTTGTAAACCTAGGCAATGTTTCAGCTCTACGCACTTTC
AGGGTACTGAGGGCTTTGAAAACTATTTCGGTAATCCCAGGCCTGAAGACAATTGTGGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCA
GATGTGATGATCCTGACAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCTTCGAAACAAGTGTGTT
GTGTGGCCCATAAACTTCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGATTGGGAAGAGTATATCAACAATAAAACAAATTTC
TACACAGTTCCTGGCATGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGGGCAATGCCCAGAGGGATACCAGTGTATGAAAGCA
GGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTTGGCATTATTTCGCCTTATGACCCAGGACTATTGG
GAAAACTTGTATCAATTGACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTG
GTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTT
AAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAGGCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCC
ATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGT
AACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGAT
GGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAGTCACTGCTCAGCATCCCAGGC
TCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAG
TTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGC
AGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACG
GTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAGGCTACAACTGAGGTGGAA
ATTAAGAAGAAAGGCCCTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATAATGAGT
GTTGTTACAAATACACTAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCGCCATGCTGGTATAAATTTGCCAACACTTTCCTCATC
TGGGAGTGCCACCCCTACTGGATAAAACTGAAAGAGATTGTGAACTTGATAGTTATGGACCCTTTTGTGGATTTAGCCATCACCATCTGC
ATCGTCCTGAATACACTGTTTATGGCAATGGAGCACCATCCTATGACACCACAATTTGAACATGTCTTGGCTGTAGGAAATCTGGAATTT
GCTGCACTGACAAAAGAATTAAATGCCTGCAGGGAACAACTTCTAGAAAAGGAAGAAGAAATCTCTGAACTTAAAGCTGAAAGAAACAAC
ACAAGACTATTACTGGAGCATTTGGAGTGCCTTGTGTCACGACATGAAAGATCACTAAGAATGACGGTGGTAAAACGGCAAGCCCAGTCT
CCCTCAGGAGTATCCAGTGAAGTTGAAGTTCTCAAGGCACTGAAATCTTTGTTTGAGCACCACAAGGCCTTGGATGAAAAGGTAAGGGAG
CGACTGAGGGTTTCTTTAGAAAGAGTCTCTGCACTGGAAGAAGAACTAGCTGCTGCTAATCAGGAGATTGTTGCCTTGCGTGAACAAAAT
GTTCATATACAAAGAAAAATGGCATCAAGCGAGGGATCCACAGAGTCAGAACATCTTGAAGGGATGGAACCTGGACAGAAAGTCCATGAG
AAGCGTTTGTCCAATGGTTCTATAGACTCAACCGATGAAACTAGTCAAATAGTTGAACTACAAGAATTGCTTGAAAAGCAAAACTATGAA
ATGGCCCAGATGAAAGAACGTTTAGCAGCCCTTTCTTCCCGAGTGGGAGAGGTGGAACAGGAAGCAGAGACAGCAAGAAAGGATCTCATT
AAAACAGAAGAAATGAACACCAAGTATCAAAGGGACATTAGGGAGGCCATGGCACAAAAGGAAGATATGGAAGAAAGAATTACAACCCTT
GAAAAGCGTTACCTCAGTGCTCAGAGAGAATCTACCTCCATACATGACATGAATGATAAACTAGAAAATGAGTTAGCAAATAAAGAAGCT
ATCCTGCGGCAGATGGAAGAGAAAAACAGACAGTTACAAGAACGTCTTGAGCTAGCTGAACAAAAGTTGCAGCAGACCATGAGAAAGGCT
GAAACCTTGCCTGAAGTAGAGGCTGAACTGGCTCAGAGAATTGCAGCCCTAACCAAGGCTGAAGAGAGACATGGAAATATTGAAGAACGT
ATGAGACATTTAGAGGGTCAACTTGAAGAGAAGAATCAAGAACTTCAAAGAGCTAGGCAAAGAGAGAAAATGAATGAGGAGCATAACAAG
AGATTATCGGATACGGTTGATAGACTTCTGACTGAATCCAATGAACGCCTACAACTACACTTAAAGGAAAGAATGGCTGCTCTAGAAGAA
AAGAATGTTTTAATTCAAGAATCAGAAACTTTCAGAAAGAATCTTGAAGAATCTTTACATGATAAGGAAAGATTAGCAGAAGAAATTGAA
AAGCTGAGATCTGAACTTGACCAATTGAAAATGAGAACTGGCTCTTTAATTGAACCCACAATACCAAGAACTCATCTAGACACCTCAGCT
GAGTTGCGGTACTCAGTGGGATCCCTAGTGGACAGCCAGTCTGATTACAGAACAACTAAAGTAATAAGAAGACCAAGGAGAGGCCGCATG
GGTGTGCGAAGAGATGAGCCAAAGGTGAAATCTCTTGGGGATCACGAGTGGAATAGAACTCAACAGATTGGAGTACTAAGCAGCCACCCT
TTTGAAAGTGACACTGAAATGTCTGATATTGATGATGATGACAGAGAAACAATTTTTAGCTCAATGGATCTTCTCTCTCCAAGTGGTCAT
TCCGATGCCCAGACGCTAGCCATGATGCTTCAGGAACAATTGGATGCCATCAACAAAGAAATCAGGCTAATTCAGGAAGAAAAAGAATCT
ACAGAGTTGCGTGCTGAAGAAATTGAAAATAGAGTGGCTAGTGTGAGCCTCGAAGGCCTGAATTTGGCAAGGGTCCACCCAGGTACCTCC
ATTACTGCCTCTGTTACAGCTTCATCGCTGGCCAGTTCATCTCCCCCCAGTGGACACTCAACTCCAAAGCTCACCCCTCGAAGCCCTGCC
AGGGAAATGGATCGGATGGGAGTCATGACACTGCCAAGTGATCTGAGGAAACATCGGAGAAAGATTGCAGTTGTGGAAGAAGATGGTCGA
GAGGACAAAGCAACAATTAAATGTGAAACTTCTCCTCCTCCTACCCCTAGAGCCCTCAGAATGACTCACACTCTCCCTTCTTCCTACCAC
AATGATGCTCGAAGTAGTTTATCTGTCTCTCTTGAGCCAGAAAGCCTCGGGCTTGGTAGTGCCAACAGCAGCCAAGACTCTCTTCACAAA
GCCCCCAAGAAGAAAGGAATCAAGTCTTCAATAGGACGTTTGTTTGGTAAAAAAGAAAAAGCTCGACTTGGGCAGCTCCGAGGCTTTATG
GAGACTGAAGCTGCAGCTCAGGAGTCCCTGGGGTTAGGCAAACTCGGAACTCAAGCTGAGAAGGATCGAAGACTAAAGAAAAACACATCT
GGGCATGAACTTCTTGAAGAAGCTCGGAGAAAGGGATTACCTTTTGCCCAGTGGGATGGGCCAACTGTGGTCGCATGGCTAGAGCTTTGG
TTGGGAATGCCTGCGTGGTACGTGGCAGCCTGCCGAGCCAACGTGAAGAGTGGTGCCATCATGTCTGCTTTATCTGACACTGAGATCCAG
AGAGAAATTGGAATCAGCAATCCACTGCATCGCTTAAAACTTCGATTAGCAATCCAGGAGATGGTTTCCCTAACAAGTCCTTCAGCTCCT
CCAACATCTCGAACTCCTTCAGGCAACGTTTGGGTGACTCATGAAGAAATGGAAAATCTTGCAGCTCCAGCAAAAACGAAAGAATCTGAG
GAAGGAAGCTGGGCCCAGTGTCCGGTTTTTCTACAGACCCTGGCTTATGGAGATATGAATCATGAGTGGATTGGAAATGAATGGCTTCCC
AGCTTGGGGTTACCTCAGTACAGAAGTTACTTTATGGAATGCTTGGTAGATGCAAGAATGTTAGATCACCTAACAAAAAAAGATCTCCGT
GTCCATTTAAAAATGGTGGATAGTTTCCATCGAACAAGTTTACAATATGGAATTATGTGCTTAAAGAGGTTGAATTATGACAGAAAAGAA
CTAGAAAGAAGACGGGAAGCAAGCCAACATGAAATAAAAGACGTGTTGGTGTGGAGCAATGACCGAGTTATTCGCTGGATACAAGCAATT
GGACTTCGAGAATATGCAAATAATATACTTGAGAGCGGTGTGCATGGCTCACTTATAGCCCTGGATGAAAACTTTGACTACAGCAGCTTA
GCTTTATTATTACAGATTCCAACACAGAACACCCAGGCAAGGCAGATTCTTGAAAGAGAATACAATAACCTCTTGGCCCTGGGAACTGAA
AGGCGACTGGATGAAAGTGATGACAAGAACTTCAGACGTGGATCAACCTGGAGAAGGCAGTTTCCTCCTCGTGAAGTACATGGAATCAGC
ATGATGCCTGGGTCCTCAGAAACATTACCAGCTGGATTTAGGTTAACCACAACCTCTGGGCAGTCAAGAAAAATGACAACAGATGATGGC
GTCTTTTCAGTCTACTCTACCTAAAGTGCACTACCATCTAAGAAGACGAGCAGTGAAAACCTTTGTGAAAACTGAATTCTAAGGAAATAA
TGACGTCATGACTTATTAAAAGCTGAAAAATGTGATTTTTGGGGGGAGTCAGATATTACATTTGATTAGTTTACTACAAATTGTAATAAA
ATGCTTAAGTCATTTGAATAATAAACATCATCTACATCATAAACTCTGTACAACAGATGCTTTTATGAAATGAAGCCAGTTGTTTTTCAT
GTTTTATTGTAATATACTAGGCATTTATGTATTACCGTGCATTTCTTTTTAAATGTGTAAGTCTTATGTAAATGGATATAAATATGATTT
TTTAAAAAATAAAATATATGGTTCATGGAGTCTCGAGTGCAAACATTTGACAATTCCAAGTACTGTTTGTATTTTACCATTCCACCATTT
TTACAGTTTTTGGATTGTTAATAGTCAAATCAATATGTTTCCTTGAAGCATGTTTCATGCTTCAACGTGTTTCTCCTTCAAGTCTGTCAA
TACTTAAAGCTGAACAACCTGCCTCTGATCATGTAAAAAAGAATGATTTAACCTGGAACCGGAGCCAAAAATAGAGCTTTAAAGGCAATC
AGGGATGTCCTATATCTTTAGAAATAGCACTGTGATGGCTTGATCTCCTTTTCAATACAAAACAAAGCCAAGCTGTTTACAAGGGTCAAA

>79696_79696_4_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000545061_PPFIA2_chr12_81851645_ENST00000549325_length(amino acids)=1945AA_BP=796
MLQDEKMAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDF
DPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESL
VKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSV
FALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFD
TFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQE
EAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDN
RIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGS
RSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEE
SQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLEFAALTKELNACRE
QLLEKEEEISELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRVSLERVSAL
EEELAAANQEIVALREQNVHIQRKMASSEGSTESEHLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALS
SRVGEVEQEAETARKDLIKTEEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDMNDKLENELANKEAILRQMEEKNRQL
QERLELAEQKLQQTMRKAETLPEVEAELAQRIAALTKAEERHGNIEERMRHLEGQLEEKNQELQRARQREKMNEEHNKRLSDTVDRLLTE
SNERLQLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKLRSELDQLKMRTGSLIEPTIPRTHLDTSAELRYSVGSLVDS
QSDYRTTKVIRRPRRGRMGVRRDEPKVKSLGDHEWNRTQQIGVLSSHPFESDTEMSDIDDDDRETIFSSMDLLSPSGHSDAQTLAMMLQE
QLDAINKEIRLIQEEKESTELRAEEIENRVASVSLEGLNLARVHPGTSITASVTASSLASSSPPSGHSTPKLTPRSPAREMDRMGVMTLP
SDLRKHRRKIAVVEEDGREDKATIKCETSPPPTPRALRMTHTLPSSYHNDARSSLSVSLEPESLGLGSANSSQDSLHKAPKKKGIKSSIG
RLFGKKEKARLGQLRGFMETEAAAQESLGLGKLGTQAEKDRRLKKNTSGHELLEEARRKGLPFAQWDGPTVVAWLELWLGMPAWYVAACR
ANVKSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPPTSRTPSGNVWVTHEEMENLAAPAKTKESEEGSWAQCPVFLQ
TLAYGDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRVHLKMVDSFHRTSLQYGIMCLKRLNYDRKELERRREASQHEI
KDVLVWSNDRVIRWIQAIGLREYANNILESGVHGSLIALDENFDYSSLALLLQIPTQNTQARQILEREYNNLLALGTERRLDESDDKNFR

--------------------------------------------------------------
>79696_79696_5_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000545061_PPFIA2_chr12_81851645_ENST00000549396_length(transcript)=7323nt_BP=2424nt
AGCTGACCTGTCCTGGACGCAGCATAACTAACGAAGCTGCTGCAGGATGAGAAGATGGCAGCGCGGCTGCTTGCACCACCAGGCCCTGAT
AGTTTCAAGCCTTTCACCCCTGAGTCACTGGCAAACATTGAGAGGCGCATTGCTGAGAGCAAGCTCAAGAAACCACCAAAGGCCGATGGC
AGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAAGCAGGGAAGAGTTTGCCTTTCATCTACGGGGACATC
CCCCAAGGCCTGGTTGCAGTTCCCCTGGAGGACTTTGACCCATACTATTTGACGCAGAAAACCTTTGTAGTATTAAACAGAGGGAAAACT
CTCTTCAGATTTAGTGCCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTGATAAGAAGAATAGCTATTAAAATTTTGATACATTCA
GTATTTAGCATGATCATTATGTGCACTATTTTGACCAACTGTGTATTCATGACTTTTAGTAACCCTCCTGACTGGTCGAAGAATGTGGAG
TACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGGTTTCTGCATAGATGGCTTTACCTTTTTACGGGAC
CCATGGAACTGGTTAGATTTCAGTGTCATCATGATGGCGTATATAACAGAGTTTGTAAACCTAGGCAATGTTTCAGCTCTACGCACTTTC
AGGGTACTGAGGGCTTTGAAAACTATTTCGGTAATCCCAGGCCTGAAGACAATTGTGGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCA
GATGTGATGATCCTGACAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCTTCGAAACAAGTGTGTT
GTGTGGCCCATAAACTTCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGATTGGGAAGAGTATATCAACAATAAAACAAATTTC
TACACAGTTCCTGGCATGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGGGCAATGCCCAGAGGGATACCAGTGTATGAAAGCA
GGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTTGGCATTATTTCGCCTTATGACCCAGGACTATTGG
GAAAACTTGTATCAATTGACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTG
GTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTT
AAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAGGCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCC
ATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGT
AACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGAT
GGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAGTCACTGCTCAGCATCCCAGGC
TCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAG
TTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGC
AGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACG
GTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAGGCTACAACTGAGGTGGAA
ATTAAGAAGAAAGGCCCTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATAATGAGT
GTTGTTACAAATACACTAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCGCCATGCTGGTATAAATTTGCCAACACTTTCCTCATC
TGGGAGTGCCACCCCTACTGGATAAAACTGAAAGAGATTGTGAACTTGATAGTTATGGACCCTTTTGTGGATTTAGCCATCACCATCTGC
ATCGTCCTGAATACACTGTTTATGGCAATGGAGCACCATCCTATGACACCACAATTTGAACATGTCTTGGCTGTAGGAAATCTGGAATTT
GCTGCACTGACAAAAGAATTAAATGCCTGCAGGGAACAACTTCTAGAAAAGGAAGAAGAAATCTCTGAACTTAAAGCTGAAAGAAACAAC
ACAAGACTATTACTGGAGCATTTGGAGTGCCTTGTGTCACGACATGAAAGATCACTAAGAATGACGGTGGTAAAACGGCAAGCCCAGTCT
CCCTCAGGAGTATCCAGTGAAGTTGAAGTTCTCAAGGCACTGAAATCTTTGTTTGAGCACCACAAGGCCTTGGATGAAAAGGTAAGGGAG
CGACTGAGGGTTTCTTTAGAAAGAGTCTCTGCACTGGAAGAAGAACTAGCTGCTGCTAATCAGGAGATTGTTGCCTTGCGTGAACAAAAT
GTTCATATACAAAGAAAAATGGCATCAAGCGAGGGATCCACAGAGTCAGAACATCTTGAAGGGATGGAACCTGGACAGAAAGTCCATGAG
AAGCGTTTGTCCAATGGTTCTATAGACTCAACCGATGAAACTAGTCAAATAGTTGAACTACAAGAATTGCTTGAAAAGCAAAACTATGAA
ATGGCCCAGATGAAAGAACGTTTAGCAGCCCTTTCTTCCCGAGTGGGAGAGGTGGAACAGGAAGCAGAGACAGCAAGAAAGGATCTCATT
AAAACAGAAGAAATGAACACCAAGTATCAAAGGGACATTAGGGAGGCCATGGCACAAAAGGAAGATATGGAAGAAAGAATTACAACCCTT
GAAAAGCGTTACCTCAGTGCTCAGAGAGAATCTACCTCCATACATGACATGAATGATAAACTAGAAAATGAGTTAGCAAATAAAGAAGCT
ATCCTGCGGCAGATGGAAGAGAAAAACAGACAGTTACAAGAACGTCTTGAGCTAGCTGAACAAAAGTTGCAGCAGACCATGAGAAAGGCT
GAAACCTTGCCTGAAGTAGAGGCTGAACTGGCTCAGAGAATTGCAGCCCTAACCAAGGCTGAAGAGAGACATGGAAATATTGAAGAACGT
ATGAGACATTTAGAGGGTCAACTTGAAGAGAAGAATCAAGAACTTCAAAGAGCTAGGCAAAGAGAGAAAATGAATGAGGAGCATAACAAG
AGATTATCGGATACGGTTGATAGACTTCTGACTGAATCCAATGAACGCCTACAACTACACTTAAAGGAAAGAATGGCTGCTCTAGAAGAA
AAGAATGTTTTAATTCAAGAATCAGAAACTTTCAGAAAGAATCTTGAAGAATCTTTACATGATAAGGAAAGATTAGCAGAAGAAATTGAA
AAGCTGAGATCTGAACTTGACCAATTGAAAATGAGAACTGGCTCTTTAATTGAACCCACAATACCAAGAACTCATCTAGACACCTCAGCT
GAGTTGCGGTACTCAGTGGGATCCCTAGTGGACAGCCAGTCTGATTACAGAACAACTAAAGTAATAAGAAGACCAAGGAGAGGCCGCATG
GGTGTGCGAAGAGATGAGCCAAAGGTGAAATCTCTTGGGGATCACGAGTGGAATAGAACTCAACAGATTGGAGTACTAAGCAGCCACCCT
TTTGAAAGTGACACTGAAATGTCTGATATTGATGATGATGACAGAGAAACAATTTTTAGCTCAATGGATCTTCTCTCTCCAAGTGGTCAT
TCCGATGCCCAGACGCTAGCCATGATGCTTCAGGAACAATTGGATGCCATCAACAAAGAAATCAGGCTAATTCAGGAAGAAAAAGAATCT
ACAGAGTTGCGTGCTGAAGAAATTGAAAATAGAGTGGCTAGTGTGAGCCTCGAAGGCCTGAATTTGGCAAGGGTCCACCCAGGTACCTCC
ATTACTGCCTCTGTTACAGCTTCATCGCTGGCCAGTTCATCTCCCCCCAGTGGACACTCAACTCCAAAGCTCACCCCTCGAAGCCCTGCC
AGGGAAATGGATCGGATGGGAGTCATGACACTGCCAAGTGATCTGAGGAAACATCGGAGAAAGATTGCAGTTGTGGAAGAAGATGGTCGA
GAGGACAAAGCAACAATTAAATGTGAAACTTCTCCTCCTCCTACCCCTAGAGCCCTCAGAATGACTCACACTCTCCCTTCTTCCTACCAC
AATGATGCTCGAAGTAGTTTATCTGTCTCTCTTGAGCCAGAAAGCCTCGGGCTTGGTAGTGCCAACAGCAGCCAAGACTCTCTTCACAAA
GCCCCCAAGAAGAAAGGAATCAAGTCTTCAATAGGACGTTTGTTTGGTAAAAAAGAAAAAGCTCGACTTGGGCAGCTCCGAGGCTTTATG
GAGACTGAAGCTGCAGCTCAGGAGTCCCTGGGGTTAGGCAAACTCGGAACTCAAGCTGAGAAGGATCGAAGACTAAAGAAAAAGCATGAA
CTTCTTGAAGAAGCTCGGAGAAAGGGATTACCTTTTGCCCAGTGGGATGGGCCAACTGTGGTCGCATGGCTAGAGCTTTGGTTGGGAATG
CCTGCGTGGTACGTGGCAGCCTGCCGAGCCAACGTGAAGAGTGGTGCCATCATGTCTGCTTTATCTGACACTGAGATCCAGAGAGAAATT
GGAATCAGCAATCCACTGCATCGCTTAAAACTTCGATTAGCAATCCAGGAGATGGTTTCCCTAACAAGTCCTTCAGCTCCTCCAACATCT
CGAACTCCTTCAGGCAACGTTTGGGTGACTCATGAAGAAATGGAAAATCTTGCAGCTCCAGCAAAAACGAAAGAATCTGAGGAAGGAAGC
TGGGCCCAGTGTCCGGTTTTTCTACAGACCCTGGCTTATGGAGATATGAATCATGAGTGGATTGGAAATGAATGGCTTCCCAGCTTGGGG
TTACCTCAGTACAGAAGTTACTTTATGGAATGCTTGGTAGATGCAAGAATGTTAGATCACCTAACAAAAAAAGATCTCCGTGTCCATTTA
AAAATGGTGGATAGTTTCCATCGAACAAGTTTACAATATGGAATTATGTGCTTAAAGAGGTTGAATTATGACAGAAAAGAACTAGAAAGA
AGACGGGAAGCAAGCCAACATGAAATAAAAGACGTGTTGGTGTGGAGCAATGACCGAGTTATTCGCTGGATACAAGCAATTGGACTTCGA
GAATATGCAAATAATATACTTGAGAGCGGTGTGCATGGCTCACTTATAGCCCTGGATGAAAACTTTGACTACAGCAGCTTAGCTTTATTA
TTACAGATTCCAACACAGAACACCCAGGCAAGGCAGATTCTTGAAAGAGAATACAATAACCTCTTGGCCCTGGGAACTGAAAGGCGACTG
GATGAAAGTGATGACAAGAACTTCAGACGTGGATCAACCTGGAGAAGGCAGTTTCCTCCTCGTGAAGTACATGGAATCAGCATGATGCCT
GGGTCCTCAGAAACATTACCAGCTGGATTTAGGTTAACCACAACCTCTGGGCAGTCAAGAAAAATGACAACAGATGTTGCTTCATCAAGA
CTGCAGAGGTTAGACAACTCCACTGTTCGCACATACTCATGTTGACCAGCCACTCAAAGGAGGCAGCACTGACCTGCTATGGCGTCTTTT
CAGTCTACTCTACCTAAAGTGCACTACCATCTAAGAAGACGAGCAGTGAAAACCTTTGTGAAAACTGAATTCTAAGGAAATAATGACGTC
ATGACTTATTAAAAGCTGAAAAATGTGATTTTTGGGGGGAGTCAGATATTACATTTGATTAGTTTACTACAAATTGTAATAAAATGCTTA
AGTCATTTGAATAATAAACATCATCTACATCATAAACTCTGTACAACAGATGCTTTTATGAAATGAAGCCAGTTGTTTTTCATGTTTTAT
TGTAATATACTAGGCATTTATGTATTACCGTGCATTTCTTTTTAAATGTGTAAGTCTTATGTAAATGGATATAAATATGATTTTTTAAAA
AATAAAATATATGGTTCATGGAGTCTCGAGTGCAAACATTTGACAATTCCAAGTACTGTTTGTATTTTACCATTCCACCATTTTTACAGT
TTTTGGATTGTTAATAGTCAAATCAATATGTTTCCTTGAAGCATGTTTCATGCTTCAACGTGTTTCTCCTTCAAGTCTGTCAATACTTAA
AGCTGAACAACCTGCCTCTGATCATGTAAAAAAGAATGATTTAACCTGGAACCGGAGCCAAAAATAGAGCTTTAAAGGCAATCAGGGATG
TCCTATATCTTTAGAAATAGCACTGTGATGGCTTGATCTCCTTTTCAATACAAAACAAAGCCAAGCTGTTTACAAGGGTCAAAAGCAATT
ATTTAAAAATTTATATTAAAAAACCATAATCTTCTCTTGTTACCTGTGGACCAAGAAAAAAAAAAAGATAAAAAAACTTCTTTACTAAGA
ACCACATGTTCATTCAAATATCTTGAAATGCCAGCCAGTACTGGACAGTGAATGTCAACCACCGCAGAGTCTGAGGCTCATTTCCACTAG
AGAAAACGAAACCCAAGATACCTTTCCCTTTTGTCAATGTAACAGGGCATTAGCCAGACTCATGTCTAATGTTATAAGCTTTTAGCCGAG
ATGGCCTTGTTGCGACTTCCCTGAAGTCAGTTTTATCAGAGGAAATAAATGAAAGACAGAATGATTAACATATATAGTGTATAAAAGTAT
AGAAGAGTAATCTCTTCCCTGTGGCTTTATTTGGTGGTGTTACTGTTGTTTATTCTTTGTTTATATGGGAGATTCAAAGTAAAGCCTATT
TAATAATACCATTTATCTAACTGCTGATTTTCTGCTGCTTGATCTTATTAAGCGCAAGACCTGTCATTAGTAATTTCTTTTCTGTATTTT
AATTTGCTATGTTTGCACGTACATTACATTTGTTTTGATGTCTATTTTTATTTAACAGATTCAGTCAAAAGGTAATGATAACAGAAACCC

>79696_79696_5_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000545061_PPFIA2_chr12_81851645_ENST00000549396_length(amino acids)=1952AA_BP=796
MLQDEKMAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDF
DPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESL
VKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSV
FALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFD
TFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQE
EAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDN
RIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGS
RSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEE
SQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLEFAALTKELNACRE
QLLEKEEEISELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRVSLERVSAL
EEELAAANQEIVALREQNVHIQRKMASSEGSTESEHLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALS
SRVGEVEQEAETARKDLIKTEEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDMNDKLENELANKEAILRQMEEKNRQL
QERLELAEQKLQQTMRKAETLPEVEAELAQRIAALTKAEERHGNIEERMRHLEGQLEEKNQELQRARQREKMNEEHNKRLSDTVDRLLTE
SNERLQLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKLRSELDQLKMRTGSLIEPTIPRTHLDTSAELRYSVGSLVDS
QSDYRTTKVIRRPRRGRMGVRRDEPKVKSLGDHEWNRTQQIGVLSSHPFESDTEMSDIDDDDRETIFSSMDLLSPSGHSDAQTLAMMLQE
QLDAINKEIRLIQEEKESTELRAEEIENRVASVSLEGLNLARVHPGTSITASVTASSLASSSPPSGHSTPKLTPRSPAREMDRMGVMTLP
SDLRKHRRKIAVVEEDGREDKATIKCETSPPPTPRALRMTHTLPSSYHNDARSSLSVSLEPESLGLGSANSSQDSLHKAPKKKGIKSSIG
RLFGKKEKARLGQLRGFMETEAAAQESLGLGKLGTQAEKDRRLKKKHELLEEARRKGLPFAQWDGPTVVAWLELWLGMPAWYVAACRANV
KSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPPTSRTPSGNVWVTHEEMENLAAPAKTKESEEGSWAQCPVFLQTLA
YGDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRVHLKMVDSFHRTSLQYGIMCLKRLNYDRKELERRREASQHEIKDV
LVWSNDRVIRWIQAIGLREYANNILESGVHGSLIALDENFDYSSLALLLQIPTQNTQARQILEREYNNLLALGTERRLDESDDKNFRRGS

--------------------------------------------------------------
>79696_79696_6_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000545061_PPFIA2_chr12_81851645_ENST00000550584_length(transcript)=7230nt_BP=2424nt
AGCTGACCTGTCCTGGACGCAGCATAACTAACGAAGCTGCTGCAGGATGAGAAGATGGCAGCGCGGCTGCTTGCACCACCAGGCCCTGAT
AGTTTCAAGCCTTTCACCCCTGAGTCACTGGCAAACATTGAGAGGCGCATTGCTGAGAGCAAGCTCAAGAAACCACCAAAGGCCGATGGC
AGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAAGCAGGGAAGAGTTTGCCTTTCATCTACGGGGACATC
CCCCAAGGCCTGGTTGCAGTTCCCCTGGAGGACTTTGACCCATACTATTTGACGCAGAAAACCTTTGTAGTATTAAACAGAGGGAAAACT
CTCTTCAGATTTAGTGCCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTGATAAGAAGAATAGCTATTAAAATTTTGATACATTCA
GTATTTAGCATGATCATTATGTGCACTATTTTGACCAACTGTGTATTCATGACTTTTAGTAACCCTCCTGACTGGTCGAAGAATGTGGAG
TACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGGTTTCTGCATAGATGGCTTTACCTTTTTACGGGAC
CCATGGAACTGGTTAGATTTCAGTGTCATCATGATGGCGTATATAACAGAGTTTGTAAACCTAGGCAATGTTTCAGCTCTACGCACTTTC
AGGGTACTGAGGGCTTTGAAAACTATTTCGGTAATCCCAGGCCTGAAGACAATTGTGGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCA
GATGTGATGATCCTGACAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCTTCGAAACAAGTGTGTT
GTGTGGCCCATAAACTTCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGATTGGGAAGAGTATATCAACAATAAAACAAATTTC
TACACAGTTCCTGGCATGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGGGCAATGCCCAGAGGGATACCAGTGTATGAAAGCA
GGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTTGGCATTATTTCGCCTTATGACCCAGGACTATTGG
GAAAACTTGTATCAATTGACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTG
GTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTT
AAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAGGCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCC
ATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGT
AACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGAT
GGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAGTCACTGCTCAGCATCCCAGGC
TCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAG
TTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGC
AGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACG
GTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAGGCTACAACTGAGGTGGAA
ATTAAGAAGAAAGGCCCTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATAATGAGT
GTTGTTACAAATACACTAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCGCCATGCTGGTATAAATTTGCCAACACTTTCCTCATC
TGGGAGTGCCACCCCTACTGGATAAAACTGAAAGAGATTGTGAACTTGATAGTTATGGACCCTTTTGTGGATTTAGCCATCACCATCTGC
ATCGTCCTGAATACACTGTTTATGGCAATGGAGCACCATCCTATGACACCACAATTTGAACATGTCTTGGCTGTAGGAAATCTGGAATTT
GCTGCACTGACAAAAGAATTAAATGCCTGCAGGGAACAACTTCTAGAAAAGGAAGAAGAAATCTCTGAACTTAAAGCTGAAAGAAACAAC
ACAAGACTATTACTGGAGCATTTGGAGTGCCTTGTGTCACGACATGAAAGATCACTAAGAATGACGGTGGTAAAACGGCAAGCCCAGTCT
CCCTCAGGAGTATCCAGTGAAGTTGAAGTTCTCAAGGCACTGAAATCTTTGTTTGAGCACCACAAGGCCTTGGATGAAAAGGTAAGGGAG
CGACTGAGGGTTTCTTTAGAAAGAGTCTCTGCACTGGAAGAAGAACTAGCTGCTGCTAATCAGGAGATTGTTGCCTTGCGTGAACAAAAT
GTTCATATACAAAGAAAAATGGCATCAAGCGAGGGATCCACAGAGTCAGAACATCTTGAAGGGATGGAACCTGGACAGAAAGTCCATGAG
AAGCGTTTGTCCAATGGTTCTATAGACTCAACCGATGAAACTAGTCAAATAGTTGAACTACAAGAATTGCTTGAAAAGCAAAACTATGAA
ATGGCCCAGATGAAAGAACGTTTAGCAGCCCTTTCTTCCCGAGTGGGAGAGGTGGAACAGGAAGCAGAGACAGCAAGAAAGGATCTCATT
AAAACAGAAGAAATGAACACCAAGTATCAAAGGGACATTAGGGAGGCCATGGCACAAAAGGAAGATATGGAAGAAAGAATTACAACCCTT
GAAAAGCGTTACCTCAGTGCTCAGAGAGAATCTACCTCCATACATGACATGAATGATAAACTAGAAAATGAGTTAGCAAATAAAGAAGCT
ATCCTGCGGCAGATGGAAGAGAAAAACAGACAGTTACAAGAACGTCTTGAGCTAGCTGAACAAAAGTTGCAGCAGACCATGAGAAAGGCT
GAAACCTTGCCTGAAGTAGAGGCTGAACTGGCTCAGAGAATTGCAGCCCTAACCAAGGCTGAAGAGAGACATGGAAATATTGAAGAACGT
ATGAGACATTTAGAGGGTCAACTTGAAGAGAAGAATCAAGAACTTCAAAGAGCTAGGCAAAGAGAGAAAATGAATGAGGAGCATAACAAG
AGATTATCGGATACGGTTGATAGACTTCTGACTGAATCCAATGAACGCCTACAACTACACTTAAAGGAAAGAATGGCTGCTCTAGAAGAA
AAGAATGTTTTAATTCAAGAATCAGAAACTTTCAGAAAGAATCTTGAAGAATCTTTACATGATAAGGAAAGATTAGCAGAAGAAATTGAA
AAGCTGAGATCTGAACTTGACCAATTGAAAATGAGAACTGGCTCTTTAATTGAACCCACAATACCAAGAACTCATCTAGACACCTCAGCT
GAGTTGCGGTACTCAGTGGGATCCCTAGTGGACAGCCAGTCTGATTACAGAACAACTAAAGTAATAAGAAGACCAAGGAGAGGCCGCATG
GGTGTGCGAAGAGATGAGCCAAAGGTGAAATCTCTTGGGGATCACGAGTGGAATAGAACTCAACAGATTGGAGTACTAAGCAGCCACCCT
TTTGAAAGTGACACTGAAATGTCTGATATTGATGATGATGACAGAGAAACAATTTTTAGCTCAATGGATCTTCTCTCTCCAAGTGGTCAT
TCCGATGCCCAGACGCTAGCCATGATGCTTCAGGAACAATTGGATGCCATCAACAAAGAAATCAGGCTAATTCAGGAAGAAAAAGAATCT
ACAGAGTTGCGTGCTGAAGAAATTGAAAATAGAGTGGCTAGTGTGAGCCTCGAAGGCCTGAATTTGGCAAGGGTCCACCCAGGTACCTCC
ATTACTGCCTCTGTTACAGCTTCATCGCTGGCCAGTTCATCTCCCCCCAGTGGACACTCAACTCCAAAGCTCACCCCTCGAAGCCCTGCC
AGGGAAATGGATCGGATGGGAGTCATGACACTGCCAAGTGATCTGAGGAAACATCGGAGAAAGATTGCAGTTGTGGAAGAAGATGGTCGA
GAGGACAAAGCAACAATTAAATGTGAAACTTCTCCTCCTCCTACCCCTAGAGCCCTCAGAATGACTCACACTCTCCCTTCTTCCTACCAC
AATGATGCTCGAAGTAGTTTATCTGTCTCTCTTGAGCCAGAAAGCCTCGGGCTTGGTAGTGCCAACAGCAGCCAAGACTCTCTTCACAAA
GCCCCCAAGAAGAAAGGAATCAAGTCTTCAATAGGACGTTTGTTTGGTAAAAAAGAAAAAGCTCGACTTGGGCAGCTCCGAGGCTTTATG
GAGACTGAAGCTGCAGCTCAGGAGTCCCTGGGGTTAGGCAAACTCGGAACTCAAGCTGAGAAGGATCGAAGACTAAAGAAAAAGCATGAA
CTTCTTGAAGAAGCTCGGAGAAAGGGATTACCTTTTGCCCAGTGGGATGGGCCAACTGTGGTCGCATGGCTAGAGCTTTGGTTGGGAATG
CCTGCGTGGTACGTGGCAGCCTGCCGAGCCAACGTGAAGAGTGGTGCCATCATGTCTGCTTTATCTGACACTGAGATCCAGAGAGAAATT
GGAATCAGCAATCCACTGCATCGCTTAAAACTTCGATTAGCAATCCAGGAGATGGTTTCCCTAACAAGTCCTTCAGCTCCTCCAACATCT
CGAACTCCTTCAGGCAACGTTTGGGTGACTCATGAAGAAATGGAAAATCTTGCAGCTCCAGCAAAAACGAAAGAATCTGAGGAAGGAAGC
TGGGCCCAGTGTCCGGTTTTTCTACAGACCCTGGCTTATGGAGATATGAATCATGAGTGGATTGGAAATGAATGGCTTCCCAGCTTGGGG
TTACCTCAGTACAGAAGTTACTTTATGGAATGCTTGGTAGATGCAAGAATGTTAGATCACCTAACAAAAAAAGATCTCCGTGTCCATTTA
AAAATGGTGGATAGTTTCCATCGAACAAGTTTACAATATGGAATTATGTGCTTAAAGAGGTTGAATTATGACAGAAAAGAACTAGAAAGA
AGACGGGAAGCAAGCCAACATGAAATAAAAGACGTGTTGGTGTGGAGCAATGACCGAGTTATTCGCTGGATACAAGCAATTGGACTTCGA
GAATATGCAAATAATATACTTGAGAGCGGTGTGCATGGCTCACTTATAGCCCTGGATGAAAACTTTGACTACAGCAGCTTAGCTTTATTA
TTACAGATTCCAACACAGAACACCCAGGCAAGGCAGATTCTTGAAAGAGAATACAATAACCTCTTGGCCCTGGGAACTGAAAGGCGACTG
GATGAAAGTGATGACAAGAACTTCAGACGTGGATCAACCTGGAGAAGGCAGTTTCCTCCTCGTGAAGTACATGGAATCAGCATGATGCCT
GGGTCCTCAGAAACATTACCAGCTGGATTTAGGTTAACCACAACCTCTGGGCAGTCAAGAAAAATGACAACAGATGATGGCGTCTTTTCA
GTCTACTCTACCTAAAGTGCACTACCATCTAAGAAGACGAGCAGTGAAAACCTTTGTGAAAACTGAATTCTAAGGAAATAATGACGTCAT
GACTTATTAAAAGCTGAAAAATGTGATTTTTGGGGGGAGTCAGATATTACATTTGATTAGTTTACTACAAATTGTAATAAAATGCTTAAG
TCATTTGAATAATAAACATCATCTACATCATAAACTCTGTACAACAGATGCTTTTATGAAATGAAGCCAGTTGTTTTTCATGTTTTATTG
TAATATACTAGGCATTTATGTATTACCGTGCATTTCTTTTTAAATGTGTAAGTCTTATGTAAATGGATATAAATATGATTTTTTAAAAAA
TAAAATATATGGTTCATGGAGTCTCGAGTGCAAACATTTGACAATTCCAAGTACTGTTTGTATTTTACCATTCCACCATTTTTACAGTTT
TTGGATTGTTAATAGTCAAATCAATATGTTTCCTTGAAGCATGTTTCATGCTTCAACGTGTTTCTCCTTCAAGTCTGTCAATACTTAAAG
CTGAACAACCTGCCTCTGATCATGTAAAAAAGAATGATTTAACCTGGAACCGGAGCCAAAAATAGAGCTTTAAAGGCAATCAGGGATGTC
CTATATCTTTAGAAATAGCACTGTGATGGCTTGATCTCCTTTTCAATACAAAACAAAGCCAAGCTGTTTACAAGGGTCAAAAGCAATTAT
TTAAAAATTTATATTAAAAAACCATAATCTTCTCTTGTTACCTGTGGACCAAGAAAAAAAAAAAGATAAAAAAACTTCTTTACTAAGAAC
CACATGTTCATTCAAATATCTTGAAATGCCAGCCAGTACTGGACAGTGAATGTCAACCACCGCAGAGTCTGAGGCTCATTTCCACTAGAG
AAAACGAAACCCAAGATACCTTTCCCTTTTGTCAATGTAACAGGGCATTAGCCAGACTCATGTCTAATGTTATAAGCTTTTAGCCGAGAT
GGCCTTGTTGCGACTTCCCTGAAGTCAGTTTTATCAGAGGAAATAAATGAAAGACAGAATGATTAACATATATAGTGTATAAAAGTATAG
AAGAGTAATCTCTTCCCTGTGGCTTTATTTGGTGGTGTTACTGTTGTTTATTCTTTGTTTATATGGGAGATTCAAAGTAAAGCCTATTTA
ATAATACCATTTATCTAACTGCTGATTTTCTGCTGCTTGATCTTATTAAGCGCAAGACCTGTCATTAGTAATTTCTTTTCTGTATTTTAA
TTTGCTATGTTTGCACGTACATTACATTTGTTTTGATGTCTATTTTTATTTAACAGATTCAGTCAAAAGGTAATGATAACAGAAACCCTT

>79696_79696_6_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000545061_PPFIA2_chr12_81851645_ENST00000550584_length(amino acids)=1942AA_BP=796
MLQDEKMAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDF
DPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESL
VKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSV
FALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFD
TFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQE
EAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDN
RIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGS
RSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEE
SQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLEFAALTKELNACRE
QLLEKEEEISELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRVSLERVSAL
EEELAAANQEIVALREQNVHIQRKMASSEGSTESEHLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALS
SRVGEVEQEAETARKDLIKTEEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDMNDKLENELANKEAILRQMEEKNRQL
QERLELAEQKLQQTMRKAETLPEVEAELAQRIAALTKAEERHGNIEERMRHLEGQLEEKNQELQRARQREKMNEEHNKRLSDTVDRLLTE
SNERLQLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKLRSELDQLKMRTGSLIEPTIPRTHLDTSAELRYSVGSLVDS
QSDYRTTKVIRRPRRGRMGVRRDEPKVKSLGDHEWNRTQQIGVLSSHPFESDTEMSDIDDDDRETIFSSMDLLSPSGHSDAQTLAMMLQE
QLDAINKEIRLIQEEKESTELRAEEIENRVASVSLEGLNLARVHPGTSITASVTASSLASSSPPSGHSTPKLTPRSPAREMDRMGVMTLP
SDLRKHRRKIAVVEEDGREDKATIKCETSPPPTPRALRMTHTLPSSYHNDARSSLSVSLEPESLGLGSANSSQDSLHKAPKKKGIKSSIG
RLFGKKEKARLGQLRGFMETEAAAQESLGLGKLGTQAEKDRRLKKKHELLEEARRKGLPFAQWDGPTVVAWLELWLGMPAWYVAACRANV
KSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPPTSRTPSGNVWVTHEEMENLAAPAKTKESEEGSWAQCPVFLQTLA
YGDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRVHLKMVDSFHRTSLQYGIMCLKRLNYDRKELERRREASQHEIKDV
LVWSNDRVIRWIQAIGLREYANNILESGVHGSLIALDENFDYSSLALLLQIPTQNTQARQILEREYNNLLALGTERRLDESDDKNFRRGS

--------------------------------------------------------------
>79696_79696_7_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000550891_PPFIA2_chr12_81851645_ENST00000549325_length(transcript)=6703nt_BP=2498nt
GAGACGCGAGTCTGAGAGCCTGCGGGCGGGCGGCGCGCTGCAGGCGAGCGGGCGAGCGGGCGCGCCCTGCAGGGAGCTGACCTGTCCTGG
ACGCAGCATAACTAACGAAGCTGCTGCAGGATGAGAAGATGGCAGCGCGGCTGCTTGCACCACCAGGCCCTGATAGTTTCAAGCCTTTCA
CCCCTGAGTCACTGGCAAACATTGAGAGGCGCATTGCTGAGAGCAAGCTCAAGAAACCACCAAAGGCCGATGGCAGTCATCGGGAGGACG
ATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAAGCAGGGAAGAGTTTGCCTTTCATCTACGGGGACATCCCCCAAGGCCTGGTTG
CAGTTCCCCTGGAGGACTTTGACCCATACTATTTGACGCAGAAAACCTTTGTAGTATTAAACAGAGGGAAAACTCTCTTCAGATTTAGTG
CCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTGATAAGAAGAATAGCTATTAAAATTTTGATACATTCAGTATTTAGCATGATCA
TTATGTGCACTATTTTGACCAACTGTGTATTCATGACTTTTAGTAACCCTCCTGACTGGTCGAAGAATGTGGAGTACACGTTCACAGGGA
TTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGGTTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAG
ATTTCAGTGTCATCATGATGGCATATGTGACAGAGTTTGTGGACCTGGGCAATGTCTCAGCGCTGAGAACATTCAGGGTTCTCCGAGCTT
TGAAAACTATCTCTGTAATTCCAGGCCTGAAGACAATTGTGGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCAGATGTGATGATCCTGA
CAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCTTCGAAACAAGTGTGTTGTGTGGCCCATAAACT
TCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGATTGGGAAGAGTATATCAACAATAAAACAAATTTCTACACAGTTCCTGGCA
TGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGGGCAATGCCCAGAGGGATACCAGTGTATGAAAGCAGGAAGGAACCCCAACT
ATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTTGGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAAT
TGACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGG
CTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGC
AACTTAAGAAGCAACAGGAAGAGGCACAGGCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTG
AAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGA
GGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGG
CCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAGTCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCC
GCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGC
ACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACA
GCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCG
TGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAGGCTACAACTGAGGTGGAAATTAAGAAGAAAGGCC
CTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATAATGAGTGTTGTTACAAATACAC
TAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCGCCATGCTGGTATAAATTTGCCAACACTTTCCTCATCTGGGAGTGCCACCCCT
ACTGGATAAAACTGAAAGAGATTGTGAACTTGATAGTTATGGACCCTTTTGTGGATTTAGCCATCACCATCTGCATCGTCCTGAATACAC
TGTTTATGGCAATGGAGCACCATCCTATGACACCACAATTTGAACATGTCTTGGCTGTAGGAAATCTGGAATTTGCTGCACTGACAAAAG
AATTAAATGCCTGCAGGGAACAACTTCTAGAAAAGGAAGAAGAAATCTCTGAACTTAAAGCTGAAAGAAACAACACAAGACTATTACTGG
AGCATTTGGAGTGCCTTGTGTCACGACATGAAAGATCACTAAGAATGACGGTGGTAAAACGGCAAGCCCAGTCTCCCTCAGGAGTATCCA
GTGAAGTTGAAGTTCTCAAGGCACTGAAATCTTTGTTTGAGCACCACAAGGCCTTGGATGAAAAGGTAAGGGAGCGACTGAGGGTTTCTT
TAGAAAGAGTCTCTGCACTGGAAGAAGAACTAGCTGCTGCTAATCAGGAGATTGTTGCCTTGCGTGAACAAAATGTTCATATACAAAGAA
AAATGGCATCAAGCGAGGGATCCACAGAGTCAGAACATCTTGAAGGGATGGAACCTGGACAGAAAGTCCATGAGAAGCGTTTGTCCAATG
GTTCTATAGACTCAACCGATGAAACTAGTCAAATAGTTGAACTACAAGAATTGCTTGAAAAGCAAAACTATGAAATGGCCCAGATGAAAG
AACGTTTAGCAGCCCTTTCTTCCCGAGTGGGAGAGGTGGAACAGGAAGCAGAGACAGCAAGAAAGGATCTCATTAAAACAGAAGAAATGA
ACACCAAGTATCAAAGGGACATTAGGGAGGCCATGGCACAAAAGGAAGATATGGAAGAAAGAATTACAACCCTTGAAAAGCGTTACCTCA
GTGCTCAGAGAGAATCTACCTCCATACATGACATGAATGATAAACTAGAAAATGAGTTAGCAAATAAAGAAGCTATCCTGCGGCAGATGG
AAGAGAAAAACAGACAGTTACAAGAACGTCTTGAGCTAGCTGAACAAAAGTTGCAGCAGACCATGAGAAAGGCTGAAACCTTGCCTGAAG
TAGAGGCTGAACTGGCTCAGAGAATTGCAGCCCTAACCAAGGCTGAAGAGAGACATGGAAATATTGAAGAACGTATGAGACATTTAGAGG
GTCAACTTGAAGAGAAGAATCAAGAACTTCAAAGAGCTAGGCAAAGAGAGAAAATGAATGAGGAGCATAACAAGAGATTATCGGATACGG
TTGATAGACTTCTGACTGAATCCAATGAACGCCTACAACTACACTTAAAGGAAAGAATGGCTGCTCTAGAAGAAAAGAATGTTTTAATTC
AAGAATCAGAAACTTTCAGAAAGAATCTTGAAGAATCTTTACATGATAAGGAAAGATTAGCAGAAGAAATTGAAAAGCTGAGATCTGAAC
TTGACCAATTGAAAATGAGAACTGGCTCTTTAATTGAACCCACAATACCAAGAACTCATCTAGACACCTCAGCTGAGTTGCGGTACTCAG
TGGGATCCCTAGTGGACAGCCAGTCTGATTACAGAACAACTAAAGTAATAAGAAGACCAAGGAGAGGCCGCATGGGTGTGCGAAGAGATG
AGCCAAAGGTGAAATCTCTTGGGGATCACGAGTGGAATAGAACTCAACAGATTGGAGTACTAAGCAGCCACCCTTTTGAAAGTGACACTG
AAATGTCTGATATTGATGATGATGACAGAGAAACAATTTTTAGCTCAATGGATCTTCTCTCTCCAAGTGGTCATTCCGATGCCCAGACGC
TAGCCATGATGCTTCAGGAACAATTGGATGCCATCAACAAAGAAATCAGGCTAATTCAGGAAGAAAAAGAATCTACAGAGTTGCGTGCTG
AAGAAATTGAAAATAGAGTGGCTAGTGTGAGCCTCGAAGGCCTGAATTTGGCAAGGGTCCACCCAGGTACCTCCATTACTGCCTCTGTTA
CAGCTTCATCGCTGGCCAGTTCATCTCCCCCCAGTGGACACTCAACTCCAAAGCTCACCCCTCGAAGCCCTGCCAGGGAAATGGATCGGA
TGGGAGTCATGACACTGCCAAGTGATCTGAGGAAACATCGGAGAAAGATTGCAGTTGTGGAAGAAGATGGTCGAGAGGACAAAGCAACAA
TTAAATGTGAAACTTCTCCTCCTCCTACCCCTAGAGCCCTCAGAATGACTCACACTCTCCCTTCTTCCTACCACAATGATGCTCGAAGTA
GTTTATCTGTCTCTCTTGAGCCAGAAAGCCTCGGGCTTGGTAGTGCCAACAGCAGCCAAGACTCTCTTCACAAAGCCCCCAAGAAGAAAG
GAATCAAGTCTTCAATAGGACGTTTGTTTGGTAAAAAAGAAAAAGCTCGACTTGGGCAGCTCCGAGGCTTTATGGAGACTGAAGCTGCAG
CTCAGGAGTCCCTGGGGTTAGGCAAACTCGGAACTCAAGCTGAGAAGGATCGAAGACTAAAGAAAAACACATCTGGGCATGAACTTCTTG
AAGAAGCTCGGAGAAAGGGATTACCTTTTGCCCAGTGGGATGGGCCAACTGTGGTCGCATGGCTAGAGCTTTGGTTGGGAATGCCTGCGT
GGTACGTGGCAGCCTGCCGAGCCAACGTGAAGAGTGGTGCCATCATGTCTGCTTTATCTGACACTGAGATCCAGAGAGAAATTGGAATCA
GCAATCCACTGCATCGCTTAAAACTTCGATTAGCAATCCAGGAGATGGTTTCCCTAACAAGTCCTTCAGCTCCTCCAACATCTCGAACTC
CTTCAGGCAACGTTTGGGTGACTCATGAAGAAATGGAAAATCTTGCAGCTCCAGCAAAAACGAAAGAATCTGAGGAAGGAAGCTGGGCCC
AGTGTCCGGTTTTTCTACAGACCCTGGCTTATGGAGATATGAATCATGAGTGGATTGGAAATGAATGGCTTCCCAGCTTGGGGTTACCTC
AGTACAGAAGTTACTTTATGGAATGCTTGGTAGATGCAAGAATGTTAGATCACCTAACAAAAAAAGATCTCCGTGTCCATTTAAAAATGG
TGGATAGTTTCCATCGAACAAGTTTACAATATGGAATTATGTGCTTAAAGAGGTTGAATTATGACAGAAAAGAACTAGAAAGAAGACGGG
AAGCAAGCCAACATGAAATAAAAGACGTGTTGGTGTGGAGCAATGACCGAGTTATTCGCTGGATACAAGCAATTGGACTTCGAGAATATG
CAAATAATATACTTGAGAGCGGTGTGCATGGCTCACTTATAGCCCTGGATGAAAACTTTGACTACAGCAGCTTAGCTTTATTATTACAGA
TTCCAACACAGAACACCCAGGCAAGGCAGATTCTTGAAAGAGAATACAATAACCTCTTGGCCCTGGGAACTGAAAGGCGACTGGATGAAA
GTGATGACAAGAACTTCAGACGTGGATCAACCTGGAGAAGGCAGTTTCCTCCTCGTGAAGTACATGGAATCAGCATGATGCCTGGGTCCT
CAGAAACATTACCAGCTGGATTTAGGTTAACCACAACCTCTGGGCAGTCAAGAAAAATGACAACAGATGATGGCGTCTTTTCAGTCTACT
CTACCTAAAGTGCACTACCATCTAAGAAGACGAGCAGTGAAAACCTTTGTGAAAACTGAATTCTAAGGAAATAATGACGTCATGACTTAT
TAAAAGCTGAAAAATGTGATTTTTGGGGGGAGTCAGATATTACATTTGATTAGTTTACTACAAATTGTAATAAAATGCTTAAGTCATTTG
AATAATAAACATCATCTACATCATAAACTCTGTACAACAGATGCTTTTATGAAATGAAGCCAGTTGTTTTTCATGTTTTATTGTAATATA
CTAGGCATTTATGTATTACCGTGCATTTCTTTTTAAATGTGTAAGTCTTATGTAAATGGATATAAATATGATTTTTTAAAAAATAAAATA
TATGGTTCATGGAGTCTCGAGTGCAAACATTTGACAATTCCAAGTACTGTTTGTATTTTACCATTCCACCATTTTTACAGTTTTTGGATT
GTTAATAGTCAAATCAATATGTTTCCTTGAAGCATGTTTCATGCTTCAACGTGTTTCTCCTTCAAGTCTGTCAATACTTAAAGCTGAACA
ACCTGCCTCTGATCATGTAAAAAAGAATGATTTAACCTGGAACCGGAGCCAAAAATAGAGCTTTAAAGGCAATCAGGGATGTCCTATATC
TTTAGAAATAGCACTGTGATGGCTTGATCTCCTTTTCAATACAAAACAAAGCCAAGCTGTTTACAAGGGTCAAAAGCAATTATTTAAAAA

>79696_79696_7_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000550891_PPFIA2_chr12_81851645_ENST00000549325_length(amino acids)=1945AA_BP=796
MLQDEKMAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDF
DPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESL
VKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSV
FALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFD
TFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQE
EAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDN
RIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGS
RSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEE
SQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLEFAALTKELNACRE
QLLEKEEEISELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRVSLERVSAL
EEELAAANQEIVALREQNVHIQRKMASSEGSTESEHLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALS
SRVGEVEQEAETARKDLIKTEEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDMNDKLENELANKEAILRQMEEKNRQL
QERLELAEQKLQQTMRKAETLPEVEAELAQRIAALTKAEERHGNIEERMRHLEGQLEEKNQELQRARQREKMNEEHNKRLSDTVDRLLTE
SNERLQLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKLRSELDQLKMRTGSLIEPTIPRTHLDTSAELRYSVGSLVDS
QSDYRTTKVIRRPRRGRMGVRRDEPKVKSLGDHEWNRTQQIGVLSSHPFESDTEMSDIDDDDRETIFSSMDLLSPSGHSDAQTLAMMLQE
QLDAINKEIRLIQEEKESTELRAEEIENRVASVSLEGLNLARVHPGTSITASVTASSLASSSPPSGHSTPKLTPRSPAREMDRMGVMTLP
SDLRKHRRKIAVVEEDGREDKATIKCETSPPPTPRALRMTHTLPSSYHNDARSSLSVSLEPESLGLGSANSSQDSLHKAPKKKGIKSSIG
RLFGKKEKARLGQLRGFMETEAAAQESLGLGKLGTQAEKDRRLKKNTSGHELLEEARRKGLPFAQWDGPTVVAWLELWLGMPAWYVAACR
ANVKSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPPTSRTPSGNVWVTHEEMENLAAPAKTKESEEGSWAQCPVFLQ
TLAYGDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRVHLKMVDSFHRTSLQYGIMCLKRLNYDRKELERRREASQHEI
KDVLVWSNDRVIRWIQAIGLREYANNILESGVHGSLIALDENFDYSSLALLLQIPTQNTQARQILEREYNNLLALGTERRLDESDDKNFR

--------------------------------------------------------------
>79696_79696_8_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000550891_PPFIA2_chr12_81851645_ENST00000549396_length(transcript)=7397nt_BP=2498nt
GAGACGCGAGTCTGAGAGCCTGCGGGCGGGCGGCGCGCTGCAGGCGAGCGGGCGAGCGGGCGCGCCCTGCAGGGAGCTGACCTGTCCTGG
ACGCAGCATAACTAACGAAGCTGCTGCAGGATGAGAAGATGGCAGCGCGGCTGCTTGCACCACCAGGCCCTGATAGTTTCAAGCCTTTCA
CCCCTGAGTCACTGGCAAACATTGAGAGGCGCATTGCTGAGAGCAAGCTCAAGAAACCACCAAAGGCCGATGGCAGTCATCGGGAGGACG
ATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAAGCAGGGAAGAGTTTGCCTTTCATCTACGGGGACATCCCCCAAGGCCTGGTTG
CAGTTCCCCTGGAGGACTTTGACCCATACTATTTGACGCAGAAAACCTTTGTAGTATTAAACAGAGGGAAAACTCTCTTCAGATTTAGTG
CCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTGATAAGAAGAATAGCTATTAAAATTTTGATACATTCAGTATTTAGCATGATCA
TTATGTGCACTATTTTGACCAACTGTGTATTCATGACTTTTAGTAACCCTCCTGACTGGTCGAAGAATGTGGAGTACACGTTCACAGGGA
TTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGGTTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAG
ATTTCAGTGTCATCATGATGGCATATGTGACAGAGTTTGTGGACCTGGGCAATGTCTCAGCGCTGAGAACATTCAGGGTTCTCCGAGCTT
TGAAAACTATCTCTGTAATTCCAGGCCTGAAGACAATTGTGGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCAGATGTGATGATCCTGA
CAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCTTCGAAACAAGTGTGTTGTGTGGCCCATAAACT
TCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGATTGGGAAGAGTATATCAACAATAAAACAAATTTCTACACAGTTCCTGGCA
TGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGGGCAATGCCCAGAGGGATACCAGTGTATGAAAGCAGGAAGGAACCCCAACT
ATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTTGGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAAT
TGACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGG
CTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGC
AACTTAAGAAGCAACAGGAAGAGGCACAGGCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTG
AAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGA
GGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGG
CCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAGTCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCC
GCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGC
ACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACA
GCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCG
TGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAGGCTACAACTGAGGTGGAAATTAAGAAGAAAGGCC
CTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATAATGAGTGTTGTTACAAATACAC
TAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCGCCATGCTGGTATAAATTTGCCAACACTTTCCTCATCTGGGAGTGCCACCCCT
ACTGGATAAAACTGAAAGAGATTGTGAACTTGATAGTTATGGACCCTTTTGTGGATTTAGCCATCACCATCTGCATCGTCCTGAATACAC
TGTTTATGGCAATGGAGCACCATCCTATGACACCACAATTTGAACATGTCTTGGCTGTAGGAAATCTGGAATTTGCTGCACTGACAAAAG
AATTAAATGCCTGCAGGGAACAACTTCTAGAAAAGGAAGAAGAAATCTCTGAACTTAAAGCTGAAAGAAACAACACAAGACTATTACTGG
AGCATTTGGAGTGCCTTGTGTCACGACATGAAAGATCACTAAGAATGACGGTGGTAAAACGGCAAGCCCAGTCTCCCTCAGGAGTATCCA
GTGAAGTTGAAGTTCTCAAGGCACTGAAATCTTTGTTTGAGCACCACAAGGCCTTGGATGAAAAGGTAAGGGAGCGACTGAGGGTTTCTT
TAGAAAGAGTCTCTGCACTGGAAGAAGAACTAGCTGCTGCTAATCAGGAGATTGTTGCCTTGCGTGAACAAAATGTTCATATACAAAGAA
AAATGGCATCAAGCGAGGGATCCACAGAGTCAGAACATCTTGAAGGGATGGAACCTGGACAGAAAGTCCATGAGAAGCGTTTGTCCAATG
GTTCTATAGACTCAACCGATGAAACTAGTCAAATAGTTGAACTACAAGAATTGCTTGAAAAGCAAAACTATGAAATGGCCCAGATGAAAG
AACGTTTAGCAGCCCTTTCTTCCCGAGTGGGAGAGGTGGAACAGGAAGCAGAGACAGCAAGAAAGGATCTCATTAAAACAGAAGAAATGA
ACACCAAGTATCAAAGGGACATTAGGGAGGCCATGGCACAAAAGGAAGATATGGAAGAAAGAATTACAACCCTTGAAAAGCGTTACCTCA
GTGCTCAGAGAGAATCTACCTCCATACATGACATGAATGATAAACTAGAAAATGAGTTAGCAAATAAAGAAGCTATCCTGCGGCAGATGG
AAGAGAAAAACAGACAGTTACAAGAACGTCTTGAGCTAGCTGAACAAAAGTTGCAGCAGACCATGAGAAAGGCTGAAACCTTGCCTGAAG
TAGAGGCTGAACTGGCTCAGAGAATTGCAGCCCTAACCAAGGCTGAAGAGAGACATGGAAATATTGAAGAACGTATGAGACATTTAGAGG
GTCAACTTGAAGAGAAGAATCAAGAACTTCAAAGAGCTAGGCAAAGAGAGAAAATGAATGAGGAGCATAACAAGAGATTATCGGATACGG
TTGATAGACTTCTGACTGAATCCAATGAACGCCTACAACTACACTTAAAGGAAAGAATGGCTGCTCTAGAAGAAAAGAATGTTTTAATTC
AAGAATCAGAAACTTTCAGAAAGAATCTTGAAGAATCTTTACATGATAAGGAAAGATTAGCAGAAGAAATTGAAAAGCTGAGATCTGAAC
TTGACCAATTGAAAATGAGAACTGGCTCTTTAATTGAACCCACAATACCAAGAACTCATCTAGACACCTCAGCTGAGTTGCGGTACTCAG
TGGGATCCCTAGTGGACAGCCAGTCTGATTACAGAACAACTAAAGTAATAAGAAGACCAAGGAGAGGCCGCATGGGTGTGCGAAGAGATG
AGCCAAAGGTGAAATCTCTTGGGGATCACGAGTGGAATAGAACTCAACAGATTGGAGTACTAAGCAGCCACCCTTTTGAAAGTGACACTG
AAATGTCTGATATTGATGATGATGACAGAGAAACAATTTTTAGCTCAATGGATCTTCTCTCTCCAAGTGGTCATTCCGATGCCCAGACGC
TAGCCATGATGCTTCAGGAACAATTGGATGCCATCAACAAAGAAATCAGGCTAATTCAGGAAGAAAAAGAATCTACAGAGTTGCGTGCTG
AAGAAATTGAAAATAGAGTGGCTAGTGTGAGCCTCGAAGGCCTGAATTTGGCAAGGGTCCACCCAGGTACCTCCATTACTGCCTCTGTTA
CAGCTTCATCGCTGGCCAGTTCATCTCCCCCCAGTGGACACTCAACTCCAAAGCTCACCCCTCGAAGCCCTGCCAGGGAAATGGATCGGA
TGGGAGTCATGACACTGCCAAGTGATCTGAGGAAACATCGGAGAAAGATTGCAGTTGTGGAAGAAGATGGTCGAGAGGACAAAGCAACAA
TTAAATGTGAAACTTCTCCTCCTCCTACCCCTAGAGCCCTCAGAATGACTCACACTCTCCCTTCTTCCTACCACAATGATGCTCGAAGTA
GTTTATCTGTCTCTCTTGAGCCAGAAAGCCTCGGGCTTGGTAGTGCCAACAGCAGCCAAGACTCTCTTCACAAAGCCCCCAAGAAGAAAG
GAATCAAGTCTTCAATAGGACGTTTGTTTGGTAAAAAAGAAAAAGCTCGACTTGGGCAGCTCCGAGGCTTTATGGAGACTGAAGCTGCAG
CTCAGGAGTCCCTGGGGTTAGGCAAACTCGGAACTCAAGCTGAGAAGGATCGAAGACTAAAGAAAAAGCATGAACTTCTTGAAGAAGCTC
GGAGAAAGGGATTACCTTTTGCCCAGTGGGATGGGCCAACTGTGGTCGCATGGCTAGAGCTTTGGTTGGGAATGCCTGCGTGGTACGTGG
CAGCCTGCCGAGCCAACGTGAAGAGTGGTGCCATCATGTCTGCTTTATCTGACACTGAGATCCAGAGAGAAATTGGAATCAGCAATCCAC
TGCATCGCTTAAAACTTCGATTAGCAATCCAGGAGATGGTTTCCCTAACAAGTCCTTCAGCTCCTCCAACATCTCGAACTCCTTCAGGCA
ACGTTTGGGTGACTCATGAAGAAATGGAAAATCTTGCAGCTCCAGCAAAAACGAAAGAATCTGAGGAAGGAAGCTGGGCCCAGTGTCCGG
TTTTTCTACAGACCCTGGCTTATGGAGATATGAATCATGAGTGGATTGGAAATGAATGGCTTCCCAGCTTGGGGTTACCTCAGTACAGAA
GTTACTTTATGGAATGCTTGGTAGATGCAAGAATGTTAGATCACCTAACAAAAAAAGATCTCCGTGTCCATTTAAAAATGGTGGATAGTT
TCCATCGAACAAGTTTACAATATGGAATTATGTGCTTAAAGAGGTTGAATTATGACAGAAAAGAACTAGAAAGAAGACGGGAAGCAAGCC
AACATGAAATAAAAGACGTGTTGGTGTGGAGCAATGACCGAGTTATTCGCTGGATACAAGCAATTGGACTTCGAGAATATGCAAATAATA
TACTTGAGAGCGGTGTGCATGGCTCACTTATAGCCCTGGATGAAAACTTTGACTACAGCAGCTTAGCTTTATTATTACAGATTCCAACAC
AGAACACCCAGGCAAGGCAGATTCTTGAAAGAGAATACAATAACCTCTTGGCCCTGGGAACTGAAAGGCGACTGGATGAAAGTGATGACA
AGAACTTCAGACGTGGATCAACCTGGAGAAGGCAGTTTCCTCCTCGTGAAGTACATGGAATCAGCATGATGCCTGGGTCCTCAGAAACAT
TACCAGCTGGATTTAGGTTAACCACAACCTCTGGGCAGTCAAGAAAAATGACAACAGATGTTGCTTCATCAAGACTGCAGAGGTTAGACA
ACTCCACTGTTCGCACATACTCATGTTGACCAGCCACTCAAAGGAGGCAGCACTGACCTGCTATGGCGTCTTTTCAGTCTACTCTACCTA
AAGTGCACTACCATCTAAGAAGACGAGCAGTGAAAACCTTTGTGAAAACTGAATTCTAAGGAAATAATGACGTCATGACTTATTAAAAGC
TGAAAAATGTGATTTTTGGGGGGAGTCAGATATTACATTTGATTAGTTTACTACAAATTGTAATAAAATGCTTAAGTCATTTGAATAATA
AACATCATCTACATCATAAACTCTGTACAACAGATGCTTTTATGAAATGAAGCCAGTTGTTTTTCATGTTTTATTGTAATATACTAGGCA
TTTATGTATTACCGTGCATTTCTTTTTAAATGTGTAAGTCTTATGTAAATGGATATAAATATGATTTTTTAAAAAATAAAATATATGGTT
CATGGAGTCTCGAGTGCAAACATTTGACAATTCCAAGTACTGTTTGTATTTTACCATTCCACCATTTTTACAGTTTTTGGATTGTTAATA
GTCAAATCAATATGTTTCCTTGAAGCATGTTTCATGCTTCAACGTGTTTCTCCTTCAAGTCTGTCAATACTTAAAGCTGAACAACCTGCC
TCTGATCATGTAAAAAAGAATGATTTAACCTGGAACCGGAGCCAAAAATAGAGCTTTAAAGGCAATCAGGGATGTCCTATATCTTTAGAA
ATAGCACTGTGATGGCTTGATCTCCTTTTCAATACAAAACAAAGCCAAGCTGTTTACAAGGGTCAAAAGCAATTATTTAAAAATTTATAT
TAAAAAACCATAATCTTCTCTTGTTACCTGTGGACCAAGAAAAAAAAAAAGATAAAAAAACTTCTTTACTAAGAACCACATGTTCATTCA
AATATCTTGAAATGCCAGCCAGTACTGGACAGTGAATGTCAACCACCGCAGAGTCTGAGGCTCATTTCCACTAGAGAAAACGAAACCCAA
GATACCTTTCCCTTTTGTCAATGTAACAGGGCATTAGCCAGACTCATGTCTAATGTTATAAGCTTTTAGCCGAGATGGCCTTGTTGCGAC
TTCCCTGAAGTCAGTTTTATCAGAGGAAATAAATGAAAGACAGAATGATTAACATATATAGTGTATAAAAGTATAGAAGAGTAATCTCTT
CCCTGTGGCTTTATTTGGTGGTGTTACTGTTGTTTATTCTTTGTTTATATGGGAGATTCAAAGTAAAGCCTATTTAATAATACCATTTAT
CTAACTGCTGATTTTCTGCTGCTTGATCTTATTAAGCGCAAGACCTGTCATTAGTAATTTCTTTTCTGTATTTTAATTTGCTATGTTTGC
ACGTACATTACATTTGTTTTGATGTCTATTTTTATTTAACAGATTCAGTCAAAAGGTAATGATAACAGAAACCCTTTCCATTGTCAATAA

>79696_79696_8_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000550891_PPFIA2_chr12_81851645_ENST00000549396_length(amino acids)=1952AA_BP=796
MLQDEKMAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDF
DPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESL
VKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSV
FALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFD
TFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQE
EAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDN
RIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGS
RSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEE
SQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLEFAALTKELNACRE
QLLEKEEEISELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRVSLERVSAL
EEELAAANQEIVALREQNVHIQRKMASSEGSTESEHLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALS
SRVGEVEQEAETARKDLIKTEEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDMNDKLENELANKEAILRQMEEKNRQL
QERLELAEQKLQQTMRKAETLPEVEAELAQRIAALTKAEERHGNIEERMRHLEGQLEEKNQELQRARQREKMNEEHNKRLSDTVDRLLTE
SNERLQLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKLRSELDQLKMRTGSLIEPTIPRTHLDTSAELRYSVGSLVDS
QSDYRTTKVIRRPRRGRMGVRRDEPKVKSLGDHEWNRTQQIGVLSSHPFESDTEMSDIDDDDRETIFSSMDLLSPSGHSDAQTLAMMLQE
QLDAINKEIRLIQEEKESTELRAEEIENRVASVSLEGLNLARVHPGTSITASVTASSLASSSPPSGHSTPKLTPRSPAREMDRMGVMTLP
SDLRKHRRKIAVVEEDGREDKATIKCETSPPPTPRALRMTHTLPSSYHNDARSSLSVSLEPESLGLGSANSSQDSLHKAPKKKGIKSSIG
RLFGKKEKARLGQLRGFMETEAAAQESLGLGKLGTQAEKDRRLKKKHELLEEARRKGLPFAQWDGPTVVAWLELWLGMPAWYVAACRANV
KSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPPTSRTPSGNVWVTHEEMENLAAPAKTKESEEGSWAQCPVFLQTLA
YGDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRVHLKMVDSFHRTSLQYGIMCLKRLNYDRKELERRREASQHEIKDV
LVWSNDRVIRWIQAIGLREYANNILESGVHGSLIALDENFDYSSLALLLQIPTQNTQARQILEREYNNLLALGTERRLDESDDKNFRRGS

--------------------------------------------------------------
>79696_79696_9_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000550891_PPFIA2_chr12_81851645_ENST00000550584_length(transcript)=7304nt_BP=2498nt
GAGACGCGAGTCTGAGAGCCTGCGGGCGGGCGGCGCGCTGCAGGCGAGCGGGCGAGCGGGCGCGCCCTGCAGGGAGCTGACCTGTCCTGG
ACGCAGCATAACTAACGAAGCTGCTGCAGGATGAGAAGATGGCAGCGCGGCTGCTTGCACCACCAGGCCCTGATAGTTTCAAGCCTTTCA
CCCCTGAGTCACTGGCAAACATTGAGAGGCGCATTGCTGAGAGCAAGCTCAAGAAACCACCAAAGGCCGATGGCAGTCATCGGGAGGACG
ATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAAGCAGGGAAGAGTTTGCCTTTCATCTACGGGGACATCCCCCAAGGCCTGGTTG
CAGTTCCCCTGGAGGACTTTGACCCATACTATTTGACGCAGAAAACCTTTGTAGTATTAAACAGAGGGAAAACTCTCTTCAGATTTAGTG
CCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTGATAAGAAGAATAGCTATTAAAATTTTGATACATTCAGTATTTAGCATGATCA
TTATGTGCACTATTTTGACCAACTGTGTATTCATGACTTTTAGTAACCCTCCTGACTGGTCGAAGAATGTGGAGTACACGTTCACAGGGA
TTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGGTTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAG
ATTTCAGTGTCATCATGATGGCATATGTGACAGAGTTTGTGGACCTGGGCAATGTCTCAGCGCTGAGAACATTCAGGGTTCTCCGAGCTT
TGAAAACTATCTCTGTAATTCCAGGCCTGAAGACAATTGTGGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCAGATGTGATGATCCTGA
CAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCTTCGAAACAAGTGTGTTGTGTGGCCCATAAACT
TCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGATTGGGAAGAGTATATCAACAATAAAACAAATTTCTACACAGTTCCTGGCA
TGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGGGCAATGCCCAGAGGGATACCAGTGTATGAAAGCAGGAAGGAACCCCAACT
ATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTTGGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAAT
TGACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGG
CTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGC
AACTTAAGAAGCAACAGGAAGAGGCACAGGCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTG
AAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGA
GGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGG
CCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAGTCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCC
GCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGC
ACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACA
GCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCG
TGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAGGCTACAACTGAGGTGGAAATTAAGAAGAAAGGCC
CTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATAATGAGTGTTGTTACAAATACAC
TAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCGCCATGCTGGTATAAATTTGCCAACACTTTCCTCATCTGGGAGTGCCACCCCT
ACTGGATAAAACTGAAAGAGATTGTGAACTTGATAGTTATGGACCCTTTTGTGGATTTAGCCATCACCATCTGCATCGTCCTGAATACAC
TGTTTATGGCAATGGAGCACCATCCTATGACACCACAATTTGAACATGTCTTGGCTGTAGGAAATCTGGAATTTGCTGCACTGACAAAAG
AATTAAATGCCTGCAGGGAACAACTTCTAGAAAAGGAAGAAGAAATCTCTGAACTTAAAGCTGAAAGAAACAACACAAGACTATTACTGG
AGCATTTGGAGTGCCTTGTGTCACGACATGAAAGATCACTAAGAATGACGGTGGTAAAACGGCAAGCCCAGTCTCCCTCAGGAGTATCCA
GTGAAGTTGAAGTTCTCAAGGCACTGAAATCTTTGTTTGAGCACCACAAGGCCTTGGATGAAAAGGTAAGGGAGCGACTGAGGGTTTCTT
TAGAAAGAGTCTCTGCACTGGAAGAAGAACTAGCTGCTGCTAATCAGGAGATTGTTGCCTTGCGTGAACAAAATGTTCATATACAAAGAA
AAATGGCATCAAGCGAGGGATCCACAGAGTCAGAACATCTTGAAGGGATGGAACCTGGACAGAAAGTCCATGAGAAGCGTTTGTCCAATG
GTTCTATAGACTCAACCGATGAAACTAGTCAAATAGTTGAACTACAAGAATTGCTTGAAAAGCAAAACTATGAAATGGCCCAGATGAAAG
AACGTTTAGCAGCCCTTTCTTCCCGAGTGGGAGAGGTGGAACAGGAAGCAGAGACAGCAAGAAAGGATCTCATTAAAACAGAAGAAATGA
ACACCAAGTATCAAAGGGACATTAGGGAGGCCATGGCACAAAAGGAAGATATGGAAGAAAGAATTACAACCCTTGAAAAGCGTTACCTCA
GTGCTCAGAGAGAATCTACCTCCATACATGACATGAATGATAAACTAGAAAATGAGTTAGCAAATAAAGAAGCTATCCTGCGGCAGATGG
AAGAGAAAAACAGACAGTTACAAGAACGTCTTGAGCTAGCTGAACAAAAGTTGCAGCAGACCATGAGAAAGGCTGAAACCTTGCCTGAAG
TAGAGGCTGAACTGGCTCAGAGAATTGCAGCCCTAACCAAGGCTGAAGAGAGACATGGAAATATTGAAGAACGTATGAGACATTTAGAGG
GTCAACTTGAAGAGAAGAATCAAGAACTTCAAAGAGCTAGGCAAAGAGAGAAAATGAATGAGGAGCATAACAAGAGATTATCGGATACGG
TTGATAGACTTCTGACTGAATCCAATGAACGCCTACAACTACACTTAAAGGAAAGAATGGCTGCTCTAGAAGAAAAGAATGTTTTAATTC
AAGAATCAGAAACTTTCAGAAAGAATCTTGAAGAATCTTTACATGATAAGGAAAGATTAGCAGAAGAAATTGAAAAGCTGAGATCTGAAC
TTGACCAATTGAAAATGAGAACTGGCTCTTTAATTGAACCCACAATACCAAGAACTCATCTAGACACCTCAGCTGAGTTGCGGTACTCAG
TGGGATCCCTAGTGGACAGCCAGTCTGATTACAGAACAACTAAAGTAATAAGAAGACCAAGGAGAGGCCGCATGGGTGTGCGAAGAGATG
AGCCAAAGGTGAAATCTCTTGGGGATCACGAGTGGAATAGAACTCAACAGATTGGAGTACTAAGCAGCCACCCTTTTGAAAGTGACACTG
AAATGTCTGATATTGATGATGATGACAGAGAAACAATTTTTAGCTCAATGGATCTTCTCTCTCCAAGTGGTCATTCCGATGCCCAGACGC
TAGCCATGATGCTTCAGGAACAATTGGATGCCATCAACAAAGAAATCAGGCTAATTCAGGAAGAAAAAGAATCTACAGAGTTGCGTGCTG
AAGAAATTGAAAATAGAGTGGCTAGTGTGAGCCTCGAAGGCCTGAATTTGGCAAGGGTCCACCCAGGTACCTCCATTACTGCCTCTGTTA
CAGCTTCATCGCTGGCCAGTTCATCTCCCCCCAGTGGACACTCAACTCCAAAGCTCACCCCTCGAAGCCCTGCCAGGGAAATGGATCGGA
TGGGAGTCATGACACTGCCAAGTGATCTGAGGAAACATCGGAGAAAGATTGCAGTTGTGGAAGAAGATGGTCGAGAGGACAAAGCAACAA
TTAAATGTGAAACTTCTCCTCCTCCTACCCCTAGAGCCCTCAGAATGACTCACACTCTCCCTTCTTCCTACCACAATGATGCTCGAAGTA
GTTTATCTGTCTCTCTTGAGCCAGAAAGCCTCGGGCTTGGTAGTGCCAACAGCAGCCAAGACTCTCTTCACAAAGCCCCCAAGAAGAAAG
GAATCAAGTCTTCAATAGGACGTTTGTTTGGTAAAAAAGAAAAAGCTCGACTTGGGCAGCTCCGAGGCTTTATGGAGACTGAAGCTGCAG
CTCAGGAGTCCCTGGGGTTAGGCAAACTCGGAACTCAAGCTGAGAAGGATCGAAGACTAAAGAAAAAGCATGAACTTCTTGAAGAAGCTC
GGAGAAAGGGATTACCTTTTGCCCAGTGGGATGGGCCAACTGTGGTCGCATGGCTAGAGCTTTGGTTGGGAATGCCTGCGTGGTACGTGG
CAGCCTGCCGAGCCAACGTGAAGAGTGGTGCCATCATGTCTGCTTTATCTGACACTGAGATCCAGAGAGAAATTGGAATCAGCAATCCAC
TGCATCGCTTAAAACTTCGATTAGCAATCCAGGAGATGGTTTCCCTAACAAGTCCTTCAGCTCCTCCAACATCTCGAACTCCTTCAGGCA
ACGTTTGGGTGACTCATGAAGAAATGGAAAATCTTGCAGCTCCAGCAAAAACGAAAGAATCTGAGGAAGGAAGCTGGGCCCAGTGTCCGG
TTTTTCTACAGACCCTGGCTTATGGAGATATGAATCATGAGTGGATTGGAAATGAATGGCTTCCCAGCTTGGGGTTACCTCAGTACAGAA
GTTACTTTATGGAATGCTTGGTAGATGCAAGAATGTTAGATCACCTAACAAAAAAAGATCTCCGTGTCCATTTAAAAATGGTGGATAGTT
TCCATCGAACAAGTTTACAATATGGAATTATGTGCTTAAAGAGGTTGAATTATGACAGAAAAGAACTAGAAAGAAGACGGGAAGCAAGCC
AACATGAAATAAAAGACGTGTTGGTGTGGAGCAATGACCGAGTTATTCGCTGGATACAAGCAATTGGACTTCGAGAATATGCAAATAATA
TACTTGAGAGCGGTGTGCATGGCTCACTTATAGCCCTGGATGAAAACTTTGACTACAGCAGCTTAGCTTTATTATTACAGATTCCAACAC
AGAACACCCAGGCAAGGCAGATTCTTGAAAGAGAATACAATAACCTCTTGGCCCTGGGAACTGAAAGGCGACTGGATGAAAGTGATGACA
AGAACTTCAGACGTGGATCAACCTGGAGAAGGCAGTTTCCTCCTCGTGAAGTACATGGAATCAGCATGATGCCTGGGTCCTCAGAAACAT
TACCAGCTGGATTTAGGTTAACCACAACCTCTGGGCAGTCAAGAAAAATGACAACAGATGATGGCGTCTTTTCAGTCTACTCTACCTAAA
GTGCACTACCATCTAAGAAGACGAGCAGTGAAAACCTTTGTGAAAACTGAATTCTAAGGAAATAATGACGTCATGACTTATTAAAAGCTG
AAAAATGTGATTTTTGGGGGGAGTCAGATATTACATTTGATTAGTTTACTACAAATTGTAATAAAATGCTTAAGTCATTTGAATAATAAA
CATCATCTACATCATAAACTCTGTACAACAGATGCTTTTATGAAATGAAGCCAGTTGTTTTTCATGTTTTATTGTAATATACTAGGCATT
TATGTATTACCGTGCATTTCTTTTTAAATGTGTAAGTCTTATGTAAATGGATATAAATATGATTTTTTAAAAAATAAAATATATGGTTCA
TGGAGTCTCGAGTGCAAACATTTGACAATTCCAAGTACTGTTTGTATTTTACCATTCCACCATTTTTACAGTTTTTGGATTGTTAATAGT
CAAATCAATATGTTTCCTTGAAGCATGTTTCATGCTTCAACGTGTTTCTCCTTCAAGTCTGTCAATACTTAAAGCTGAACAACCTGCCTC
TGATCATGTAAAAAAGAATGATTTAACCTGGAACCGGAGCCAAAAATAGAGCTTTAAAGGCAATCAGGGATGTCCTATATCTTTAGAAAT
AGCACTGTGATGGCTTGATCTCCTTTTCAATACAAAACAAAGCCAAGCTGTTTACAAGGGTCAAAAGCAATTATTTAAAAATTTATATTA
AAAAACCATAATCTTCTCTTGTTACCTGTGGACCAAGAAAAAAAAAAAGATAAAAAAACTTCTTTACTAAGAACCACATGTTCATTCAAA
TATCTTGAAATGCCAGCCAGTACTGGACAGTGAATGTCAACCACCGCAGAGTCTGAGGCTCATTTCCACTAGAGAAAACGAAACCCAAGA
TACCTTTCCCTTTTGTCAATGTAACAGGGCATTAGCCAGACTCATGTCTAATGTTATAAGCTTTTAGCCGAGATGGCCTTGTTGCGACTT
CCCTGAAGTCAGTTTTATCAGAGGAAATAAATGAAAGACAGAATGATTAACATATATAGTGTATAAAAGTATAGAAGAGTAATCTCTTCC
CTGTGGCTTTATTTGGTGGTGTTACTGTTGTTTATTCTTTGTTTATATGGGAGATTCAAAGTAAAGCCTATTTAATAATACCATTTATCT
AACTGCTGATTTTCTGCTGCTTGATCTTATTAAGCGCAAGACCTGTCATTAGTAATTTCTTTTCTGTATTTTAATTTGCTATGTTTGCAC
GTACATTACATTTGTTTTGATGTCTATTTTTATTTAACAGATTCAGTCAAAAGGTAATGATAACAGAAACCCTTTCCATTGTCAATAAAA

>79696_79696_9_SCN8A-PPFIA2_SCN8A_chr12_52145377_ENST00000550891_PPFIA2_chr12_81851645_ENST00000550584_length(amino acids)=1942AA_BP=796
MLQDEKMAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDF
DPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESL
VKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSV
FALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFD
TFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQE
EAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDN
RIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGS
RSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEE
SQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLEFAALTKELNACRE
QLLEKEEEISELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRVSLERVSAL
EEELAAANQEIVALREQNVHIQRKMASSEGSTESEHLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALS
SRVGEVEQEAETARKDLIKTEEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDMNDKLENELANKEAILRQMEEKNRQL
QERLELAEQKLQQTMRKAETLPEVEAELAQRIAALTKAEERHGNIEERMRHLEGQLEEKNQELQRARQREKMNEEHNKRLSDTVDRLLTE
SNERLQLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKLRSELDQLKMRTGSLIEPTIPRTHLDTSAELRYSVGSLVDS
QSDYRTTKVIRRPRRGRMGVRRDEPKVKSLGDHEWNRTQQIGVLSSHPFESDTEMSDIDDDDRETIFSSMDLLSPSGHSDAQTLAMMLQE
QLDAINKEIRLIQEEKESTELRAEEIENRVASVSLEGLNLARVHPGTSITASVTASSLASSSPPSGHSTPKLTPRSPAREMDRMGVMTLP
SDLRKHRRKIAVVEEDGREDKATIKCETSPPPTPRALRMTHTLPSSYHNDARSSLSVSLEPESLGLGSANSSQDSLHKAPKKKGIKSSIG
RLFGKKEKARLGQLRGFMETEAAAQESLGLGKLGTQAEKDRRLKKKHELLEEARRKGLPFAQWDGPTVVAWLELWLGMPAWYVAACRANV
KSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPPTSRTPSGNVWVTHEEMENLAAPAKTKESEEGSWAQCPVFLQTLA
YGDMNHEWIGNEWLPSLGLPQYRSYFMECLVDARMLDHLTKKDLRVHLKMVDSFHRTSLQYGIMCLKRLNYDRKELERRREASQHEIKDV
LVWSNDRVIRWIQAIGLREYANNILESGVHGSLIALDENFDYSSLALLLQIPTQNTQARQILEREYNNLLALGTERRLDESDDKNFRRGS

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Fusion Gene PPI Analysis for SCN8A-PPFIA2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for SCN8A-PPFIA2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SCN8A-PPFIA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource