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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:TBC1D8-SCN7A (FusionGDB2 ID:89420)

Fusion Gene Summary for TBC1D8-SCN7A

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D8-SCN7A
Fusion gene ID: 89420
HgeneTgene
Gene symbol

TBC1D8

SCN7A

Gene ID

11138

6332

Gene nameTBC1 domain family member 8sodium voltage-gated channel alpha subunit 7
SynonymsAD3|GRAMD8|HBLP1|TBC1D8A|VRPNaG|Nav2.1|Nav2.2|SCN6A
Cytomap

2q11.2

2q24.3

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 8BUB2-like protein 1TBC1 domain family, member 8 (with GRAM domain)TBC1 domain family, member 8Avascular Rab-GAP/TBC-containing proteinsodium channel protein type 7 subunit alphaputative voltage-gated sodium channel subunit alpha Naxsodium channel protein cardiac and skeletal muscle subunit alphasodium channel protein type VII subunit alphasodium channel, voltage-gated, type VI, alph
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000376840, ENST00000409318, 
ENST00000462819, 		ENST00000409855, 
Fusion gene scores* DoF score15 X 16 X 6=14404 X 4 X 3=48
# samples 184
** MAII scorelog2(18/1440*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBC1D8 [Title/Abstract] AND SCN7A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTBC1D8(101643844)-SCN7A(167304218), # samples:1
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 TBC1D8 (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 SCN7A (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
ChimerDB4Non-Cancer257NTBC1D8chr2

101643844

-SCN7Achr2

167304218

-


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Fusion Gene ORF analysis for TBC1D8-SCN7A

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
In-frameENST00000376840ENST00000409855TBC1D8chr2

101643844

-SCN7Achr2

167304218

-
In-frameENST00000409318ENST00000409855TBC1D8chr2

101643844

-SCN7Achr2

167304218

-
intron-3CDSENST00000462819ENST00000409855TBC1D8chr2

101643844

-SCN7Achr2

167304218

-

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)
ENST00000376840TBC1D8chr2101643844-ENST00000409855SCN7Achr2167304218-82412475062332077
ENST00000409318TBC1D8chr2101643844-ENST00000409855SCN7Achr2167304218-8417265113164092092

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
ENST00000376840ENST00000409855TBC1D8chr2101643844-SCN7Achr2167304218-0.0002571650.9997428
ENST00000409318ENST00000409855TBC1D8chr2101643844-SCN7Achr2167304218-0.0002881320.9997118

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Fusion Genomic Features for TBC1D8-SCN7A


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 TBC1D8-SCN7A


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/chr2:101643844/chr2:167304218)
- 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
HgeneTBC1D8chr2:101643844chr2:167304218ENST00000376840-1520145_2128251141.0DomainNote=GRAM 1
HgeneTBC1D8chr2:101643844chr2:167304218ENST00000376840-1520285_3538251141.0DomainNote=GRAM 2
HgeneTBC1D8chr2:101643844chr2:167304218ENST00000376840-1520505_6928251141.0DomainRab-GAP TBC
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251129_11504301683.0IntramembranePore-forming
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251420_14424301683.0IntramembranePore-forming
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925674_6944301683.0IntramembranePore-forming
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251233_15314301683.0RepeatIV
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925487_7584301683.0RepeatII
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925916_12244301683.0RepeatIII
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251019_10214301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251041_10574301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251078_11284301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251151_11674301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251190_12524301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251271_12814301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251301_13124301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251331_13434301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251361_13794301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251398_14194301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251443_14724301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251496_16824301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925525_5354301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925556_5694301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925590_5914301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925610_6254301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925645_6734301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925695_7074301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925728_9354301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925954_9664301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925986_9994301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251000_10184301683.0TransmembraneHelical%3B Name%3DS3 of repeat III
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251022_10404301683.0TransmembraneHelical%3B Name%3DS4 of repeat III
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251058_10774301683.0TransmembraneHelical%3B Name%3DS5 of repeat III
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251168_11894301683.0TransmembraneHelical%3B Name%3DS6 of repeat III
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251253_12704301683.0TransmembraneHelical%3B Name%3DS1 of repeat IV
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251282_13004301683.0TransmembraneHelical%3B Name%3DS2 of repeat IV
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251313_13304301683.0TransmembraneHelical%3B Name%3DS3 of repeat IV
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251344_13604301683.0TransmembraneHelical%3B Name%3DS4 of repeat IV
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251380_13974301683.0TransmembraneHelical%3B Name%3DS5 of repeat IV
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251473_14954301683.0TransmembraneHelical%3B Name%3DS6 of repeat IV
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925506_5244301683.0TransmembraneHelical%3B Name%3DS1 of repeat II
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925536_5554301683.0TransmembraneHelical%3B Name%3DS2 of repeat II
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925570_5894301683.0TransmembraneHelical%3B Name%3DS3 of repeat II
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925592_6094301683.0TransmembraneHelical%3B Name%3DS4 of repeat II
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925626_6444301683.0TransmembraneHelical%3B Name%3DS5 of repeat II
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925708_7274301683.0TransmembraneHelical%3B Name%3DS6 of repeat II
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925936_9534301683.0TransmembraneHelical%3B Name%3DS1 of repeat III
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925967_9854301683.0TransmembraneHelical%3B Name%3DS2 of repeat III

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925339_3634301683.0IntramembranePore-forming
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925100_4014301683.0RepeatI
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925138_1444301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925166_1794301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925198_2034301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST000004098559251_1184301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925221_2394301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925260_3384301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925364_3704301683.0Topological domainExtracellular
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925392_5054301683.0Topological domainCytoplasmic
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925119_1374301683.0TransmembraneHelical%3B Name%3DS1 of repeat I
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925145_1654301683.0TransmembraneHelical%3B Name%3DS2 of repeat I
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925180_1974301683.0TransmembraneHelical%3B Name%3DS3 of repeat I
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925204_2204301683.0TransmembraneHelical%3B Name%3DS4 of repeat I
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925240_2594301683.0TransmembraneHelical%3B Name%3DS5 of repeat I
TgeneSCN7Achr2:101643844chr2:167304218ENST00000409855925371_3914301683.0TransmembraneHelical%3B Name%3DS6 of repeat I


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Fusion Gene Sequence for TBC1D8-SCN7A


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.
>89420_89420_1_TBC1D8-SCN7A_TBC1D8_chr2_101643844_ENST00000376840_SCN7A_chr2_167304218_ENST00000409855_length(transcript)=8241nt_BP=2475nt
ATGTGGCTCAAGCCCGAGGAGGTGCTGCTGAAGAACGCGCTGAAGCTCTGGGTGACCCAGAAGAGCAGCTGCTACTTCATCCTGCAGCGG
CGCCGCGGGCACGGCGAGGGGGGCGGCCGCCTCACCGGTCGCCTGGTCGGCGCTCTGGATGCAGTGTTGGATTCCAATGCACGGGTCGCT
CCATTTCGAATTCTGCTTCAAGTTCCCGGCTCCCAGGTTTATTCTCCCATAGCATGTGGTGCAACATTAGAGGAAATCAATCAGCACTGG
GACTGGCTGGAACAAAATCTCCTCCACACCTTGTCTGTCTTTGATAATAAAGATGACATTGCCAGTTTTGTCAAAGGGAAGGTAAAGGCT
CTGATAGCCGAGGAGACCAGCAGCAGGCTCGCCGAGCAGGAGGAGGAACCCGAGAAATTCCGAGAAGCCCTGGTGAAGTTCGAGGCCAGG
TTCAACTTCCCCGAGGCGGAGAAGCTGGTCACCTACTACTCCTGCTGCTGTTGGAAGGGCAGGGTGCCCCGCCAGGGCTGGCTGTACCTC
AGCATCAACCACCTCTGCTTCTACTCCTTCTTCCTGGGCAAGGAACTTAAACTTGTGGTTCCGTGGGTTGATATCCAGAAATTAGAAAGA
ACGTCCAATGTCTTTCTGACGGATACCATCCGAATCACCACGCAGAATAAGGAGCGTGACTTCTCCATGTTCCTGAACCTGGATGAGGTG
TTTAAGGTCATGGAGCAGCTGGCCGACGTGACGCTGCGAAGGCTGCTGGATAATGAGGTCTTTGACCTCGACCCCGATCTGCAGGAGCCG
AGCCAGATCACCAAGAGGGACCTGGAAGCCAGAGCACAGAATGAGTTCTTCCGGGCTTTCTTCAGGTTGCCGAGGAAGGAGAAGCTGCAC
GCGGTTGTGGACTGTTCGCTCTGGACGCCGTTCAGTCGCTGTCACACCACGGGGCGGATGTTCGCCTCTGACAGCTACATCTGCTTTGCC
AGCAGAGAAGATGGCTGCTGTAAGATCATCCTGCCACTCAGAGAGGTGGTGAGCATCGAGAAGATGGAGGACACGAGCCTGCTGCCGCAT
CCCATCATTGTCAGTATCAGAAGCAAGGTGGCCTTCCAGTTCATTGAGCTCCGGGACCGAGACAGCCTGGTGGAGGCGCTGCTTGCGAGG
TTGAAGCAGGTCCACGCCAACCACCCCGTGCACTACGACACCTCTGCGGATGATGACATGGCTTCACTCGTGTTTCATTCAACAAGCATG
TGCAGTGACCACAGATTTGGGGATCTTGAAATGATGTCTTCTCAAAATAGCGAGGAGAGTGAGAAAGAGAAGAGCCCGCTGATGCACCCC
GATGCCCTGGTCACCGCCTTCCAGCAGTCAGGCAGCCAGAGCCCTGACTCCCGAATGTCCAGAGAACAGATAAAAATAAGCCTGTGGAAT
GACCACTTTGTGGAATACGGCAGAACCGTGTGTATGTTTCGCACAGAGAAGATTCGGAAGCTCGTAGCCATGGGCATCCCTGAATCTTTG
CGAGGGAGACTCTGGCTTCTCTTCTCAGATGCGGTGACGGATCTTGCCTCACACCCTGGTTACTACGGGAATCTGGTGGAGGAGTCCCTG
GGGAAATGCTGCCTGGTAACCGAGGAGATAGAACGAGACCTGCACCGCTCCCTGCCAGAGCACCCCGCCTTCCAGAACGAAACGGGAATT
GCTGCTTTGAGGAGAGTCTTGACGGCCTATGCCCACCGGAACCCCAAGATTGGATACTGCCAGTCCATGAACATCCTGACCTCCGTGCTG
CTGCTGTACACCAAGGAGGAGGAAGCCTTCTGGCTGTTGGTTGCTGTGTGTGAGCGGATGCTGCCCGATTACTTCAACCACCGAGTGATC
GGGGCACAAGTTGACCAGTCTGTCTTCGAGGAGCTCATCAAGGGTCATCTCCCAGAGCTGGCAGAGCACATGAACGACCTCTCAGCCCTG
GCGTCCGTCTCTCTCTCGTGGTTCCTGACCCTGTTCCTCAGCATCATGCCTCTAGAGAGTGCGGTGAATGTGGTAGACTGCTTCTTCTAT
GATGGCATCAAAGCCATCTTCCAGCTGGGACTGGCTGTGCTTGAGGCCAATGCTGAGGACCTGTGCAGCAGCAAGGATGATGGCCAGGCC
TTGATGATCCTCAGCAGGTTTCTAGATCACATTAAGAATGAGGACAGCCCAGGGCCCCCAGTTGGCAGCCACCATGCCTTTTTCTCCGAC
GACCAGGAGCCCTACCCTGTGACTGATATTTCGGACCTGATCCGGGATTCCTATGAGAAATTTGGAGACCAGTCTGTGGAGCAGATCGAG
CACCTACGTTACAAGCACAGGATCAGGGTCCTCCAAGGCCACGAGGACACCACAAAGCAGAACGTGCTTCGAGTCGTTATCCCGGAAGTC
TCAATTCTTCCTGAAGACCTAGAGGAGCTCTACGACTTATTCAAGGCCAAGACCATACAAATAGAAATGAAGAAAAGGTCACCAATTTCC
ACAGACACATCATTGGATGTGTTGGAAGATGCTACTCTCAGACATAAGGAAGAACTTGAAAAATCCAAGAAGATATGCCCATTATACTGG
TATAAGTTTGCTAAAACTTTCTTGATCTGGAATTGTTCTCCCTGTTGGTTAAAATTGAAAGAGTTTGTCCATAGGATTATAATGGCACCA
TTTACTGATCTTTTCCTTATCATATGCATAATTTTAAACGTATGTTTTCTGACCTTGGAGCATTATCCAATGAGTAAACAAACTAACACT
CTTCTCAACATTGGAAACCTGGTTTTCATTGGAATTTTCACAGCAGAAATGATTTTTAAAATAATTGCAATGCATCCATATGGGTATTTC
CAAGTAGGTTGGAACATTTTTGATAGCATGATAGTGTTCCATGGTTTAATAGAACTTTGTCTAGCAAATGTTGCAGGAATGGCTCTTCTT
CGATTATTCAGGATGTTAAGAATTTTCAAGTTGGGAAAGTATTGGCCAACATTCCAGATTTTGATGTGGTCTCTTAGTAACTCATGGGTG
GCCCTGAAAGACTTGGTCCTGTTGTTGTTCACATTCATCTTCTTTTCTGCTGCATTCGGCATGAAGCTGTTTGGTAAGAATTATGAAGAA
TTTGTCTGCCACATAGACAAAGACTGTCAACTCCCACGCTGGCACATGCATGACTTTTTCCACTCCTTCCTGAATGTGTTCCGAATTCTC
TGTGGAGAGTGGGTAGAGACCTTGTGGGACTGTATGGAGGTTGCAGGCCAATCCTGGTGTATTCCTTTTTACCTGATGGTCATTTTAATT
GGAAATTTACTGGTACTTTACCTGTTTCTGGCATTGGTGAGCTCATTTAGTTCATGCAAGGATGTAACAGCTGAAGAGAATAATGAAGCA
AAAAATCTCCAGCTTGCAGTGGCAAGAATTAAAAAAGGAATAAACTATGTGCTTCTTAAAATACTATGCAAAACACAAAATGTCCCAAAG
GACACAATGGACCATGTAAATGAGGTATATGTTAAAGAAGATATTTCTGACCATACCCTTTCTGAATTGAGCAACACCCAAGATTTTCTC
AAAGATAAGGAAAAAAGCAGTGGCACAGAGAAAAACGCTACTGAAAATGAGAGCCAATCACTTATCCCCAGTCCTAGTGTCTCAGAAACT
GTACCAATTGCTTCAGGAGAATCTGATATAGAAAATCTGGATAATAAGGAGATTCAGAGTAAGTCTGGTGATGGAGGCAGCAAAGAGAAA
ATAAAGCAATCTAGCTCATCTGAATGCAGTACTGTTGATATTGCTATCTCTGAAGAAGAAGAAATGTTCTATGGAGGTGAAAGATCAAAG
CATCTGAAAAATGGTTGCAGACGCGGATCTTCACTTGGTCAAATCAGTGGAGCATCCAAGAAAGGAAAAATCTGGCAGAACATCAGGAAA
ACCTGCTGCAAGATTGTAGAGAACAATTGGTTTAAGTGTTTTATTGGGCTTGTTACTCTGCTCAGCACTGGCACTCTGGCTTTTGAAGAT
ATATATATGGATCAGAGAAAGACAATTAAAATTTTATTAGAATATGCTGACATGATCTTTACTTATATCTTCATTCTGGAAATGCTTCTA
AAATGGATGGCATATGGTTTTAAGGCCTATTTCTCTAATGGCTGGTACAGGCTGGACTTCGTGGTTGTTATTGTGTTTTGTCTTAGCTTA
ATAGGCAAAACTCGGGAAGAACTAAAACCTCTTATTTCCATGAAATTCCTTCGGCCCCTCAGAGTTCTATCTCAATTTGAAAGAATGAAG
GTGGTTGTGAGAGCTTTGATCAAAACAACCTTACCCACTTTGAATGTGTTTCTTGTCTGCCTGATGATCTGGCTGATTTTTAGTATCATG
GGAGTAGACTTATTTGCTGGCAGATTCTATGAATGCATTGACCCAACAAGTGGAGAAAGGTTTCCTTCATCTGAAGTCATGAATAAGAGT
CGGTGTGAAAGCCTTCTGTTTAACGAATCCATGCTATGGGAAAATGCAAAAATGAACTTTGATAATGTTGGAAATGGTTTCCTTTCTCTG
CTTCAAGTAGCAACATTTAATGGATGGATCACTATTATGAATTCAGCAATTGATTCTGTTGCTGTTAATATACAGCCTCATTTTGAAGTC
AACATCTACATGTATTGTTACTTTATCAACTTTATTATATTTGGAGTATTTCTCCCTCTGAGTATGCTGATTACTGTTATTATTGATAAT
TTCAACAAGCATAAAATAAAGCTGGGAGGCTCAAATATCTTTATAACGGTTAAACAGAGAAAACAGTACCGCAGGCTGAAGAAGCTAATG
TATGAGGATTCTCAAAGACCAGTACCTCGCCCATTAAACAAGCTCCAAGGATTCATCTTTGATGTGGTAACAAGCCAAGCTTTTAATGTC
ATTGTTATGGTTCTTATATGTTTCCAAGCAATAGCCATGATGATAGACACTGATGTTCAGAGTCTACAAATGTCCATTGCTCTCTACTGG
ATTAACTCAATTTTTGTTATGCTATATACTATGGAATGTATACTGAAGCTCATCGCTTTCCGTTGTTTTTATTTCACCATTGCGTGGAAC
ATTTTTGATTTTATGGTGGTTATTTTCTCCATCACAGGACTATGTCTGCCTATGACAGTAGGATCCTACCTTGTGCCTCCTTCACTTGTG
CAACTGATACTTCTCTCACGGATCATTCACATGCTGCGTCTTGGAAAAGGACCAAAGGTGTTTCATAATCTGATGCTTCCTTTGATGCTG
TCCCTCCCAGCATTATTGAACATCATTCTTCTCATCTTCCTGGTCATGTTCATCTATGCCGTATTTGGAATGTATAATTTTGCCTATGTT
AAAAAAGAAGCTGGAATTAATGATGTGTCTAATTTTGAAACCTTTGGCAACAGTATGCTCTGTCTTTTTCAAGTTGCAATATTTGCTGGT
TGGGATGGGATGCTTGATGCAATTTTCAACAGTAAATGGTCTGACTGTGATCCTGATAAAATTAACCCTGGGACTCAAGTTAGAGGAGAT
TGTGGGAACCCCTCTGTTGGGATTTTTTATTTTGTCAGTTATATCCTCATATCATGGCTGATCATTGTAAATATGTACATTGTTGTTGTC
ATGGAGTTTTTAAATATTGCTTCTAAGAAGAAAAACAAGACCTTGAGTGAAGATGATTTTAGGAAATTCTTTCAGGTATGGAAAAGGTTT
GATCCTGATAGGACCCAGTACATAGACTCTAGCAAGCTTTCAGATTTTGCAGCTGCTCTTGATCCTCCTCTTTTCATGGCAAAACCAAAC
AAGGGCCAGCTCATTGCTTTGGACCTCCCCATGGCTGTTGGGGACAGAATTCATTGCCTCGATATCTTACTTGCTTTTACAAAGAGAGTT
ATGGGTCAAGATGTGAGGATGGAGAAAGTTGTTTCAGAAATAGAATCAGGGTTTTTGTTAGCCAACCCTTTTAAGATCACATGTGAGCCA
ATTACGACTACTTTGAAACGAAAACAAGAGGCAGTTTCAGCAACCATCATTCAACGTGCTTATAAAAATTACCGCTTGAGGCGAAATGAC
AAAAATACATCAGATATTCATATGATAGATGGTGACAGAGATGTTCATGCTACTAAAGAAGGTGCCTATTTTGACAAAGCTAAGGAAAAG
TCACCTATTCAAAGCCAGATCTAATACCACTTACCACCTCTTTTCATATTTCTTCACATATCTGAAAAATGTTGAAAGCCTAAGCCAGGA
ATAAAAGAAAAGTAGAGATAATAATCAGTTCTTTACAACCGATGGTAATTAAGCTTGTATTCACAAGACTTCATGCCAAATTCACTTTTT
AGCATTATATCTAACAAATCAAGAGAATCCTTAATATTGCTGCAGTGAGTTTAAAGTGGGTTAAAGTGGCCATTTGACAATCTCATATTT
GTTTTCTCTACATGGCTTATATGATGTGTGCCTTCTAGGGAATGAAGGGAAGTGGTGATAGAGATCAGCAGCAGCAGGGGCTTTCTTTTA
TATTTTATGTATAATTTAATGGGCTTTAAGTCACCACTATTAAGACTTACAAATAAGCAAATACTTTCCTGATGTGGGATGGTGAAATGC
TAATGGCCATTAAATCATAAACTTGCCTAGACAAAAGCCAATTGGAAGAAGGGAGAGAGCAGTTCTTTAGAAAGTGCCTTTGAGATCAAC
CTCAGAGATTCTTGGGCTGATTAAAACTGCATTTGAAAAAGATTGGTTGAAGCTCTGTGTTTATTTTTGTATGTTCTTGTTTTCATTTGG
AACTGGGAATGAATAGGATTTCATTGTGCTCAAGCTCCTGGTTTCTCATCTCTGGATAGTTTCACCTAAGCTCTGGCTCTTAAGCAGGAC
AGATTCGTAAAACAAGAAGCATAAAGGAGAGGTATAGCCTTTTTTTTTTTTTTTTTTTTCATTTTCTTCTCATTTACACCTATTTTTTTA
AAAAGTATACATTTACTAAAATGATGTAATAAATAACATGTTAATAGACTCAAGCTTTACCTTATGAAATTGATGTATTTTTACCAGTTA
TTTCTAATGTAACATTGAATATATAAGATCTGACAAATGTATGTTTAAACATGAATTAGAAGAGTTGAGAACTACCATTATGTATAGGGA
TTCTCATAGTGTCTTGGCCCTTAATTGGAAAGTTGTGGCAACTTTAAAGTACTTTTTACTGTATGTTATAATTCTTTATAACTTAGAGAG
AGACAATGGTCACTCAAACTATGAGAACTATGAATTAGGAGATAAAAGTTTAAATTTGTTGTTGTTTTATAACAGTATGTACAAGTTAGT
TTTCCCTTATATATTTACGTTTTCAAGTTTTTTAATCTCATCATATACATCCATACTCTATAAAATGTTTTATATTCAAAGAACTGTAAA
ATCCTAAACATTAGTTTTCACTATTGAAATTGTTTTTTAAAGATAGGCATAAATAGTTGTCCTTAGACTTATTCATACAAATATAGTCAT
TTACTTCTATGTAGTTTGAGATTCTGAGAGTTATTCCAACTTTATGAAGATTGATTTCAATGTGCCTGCTAAGTCCTAAAAGATTCAGAA
AGAAAATTTATATATTATTGATTTAAATATCATCCTTTAAATATGTTGTATAACATTCAATATAGTTTATGTATCAGTGATTGTATTTTA
TTCTGAATGCATGATCTCAAGCCTTAACTACTATAATCTTTTTCTGCCCCTCAGAAATTGAATAACCTAACCAAGATGCCTTTAGGGGAT
GCCCTAAGTAAATGTAATTTCAGATTTCAGGGTTTTTTTTTTTTCCTCTCTAAGTGTTCCTTCCCTTTCTTCTCCTGCTCTCCATCATGT
TATGGAGACCAGTGAGGAACCAGTGTTAACTTGGTGACAATGTGACAGCTGGTGCTTTATCTAAGCTCCGTTTTCTATTTCTTGGGAATG
CTTTATTGTGGAAACTGCTTCAGATACTTAAATTGAATCATAACTTGCTTCTGTAAATTGCGTAAAGACAACAAACTGATTTTAGTTTGA
AAAGTTTATCTTTTACTTGTAAACCTTGTTTGCCAGTTACCTTCCGAAAGCTGTGTAAAGAGTTATTTTTAACAAAGTCTTAACAATATA

>89420_89420_1_TBC1D8-SCN7A_TBC1D8_chr2_101643844_ENST00000376840_SCN7A_chr2_167304218_ENST00000409855_length(amino acids)=2077AA_BP=823
MWLKPEEVLLKNALKLWVTQKSSCYFILQRRRGHGEGGGRLTGRLVGALDAVLDSNARVAPFRILLQVPGSQVYSPIACGATLEEINQHW
DWLEQNLLHTLSVFDNKDDIASFVKGKVKALIAEETSSRLAEQEEEPEKFREALVKFEARFNFPEAEKLVTYYSCCCWKGRVPRQGWLYL
SINHLCFYSFFLGKELKLVVPWVDIQKLERTSNVFLTDTIRITTQNKERDFSMFLNLDEVFKVMEQLADVTLRRLLDNEVFDLDPDLQEP
SQITKRDLEARAQNEFFRAFFRLPRKEKLHAVVDCSLWTPFSRCHTTGRMFASDSYICFASREDGCCKIILPLREVVSIEKMEDTSLLPH
PIIVSIRSKVAFQFIELRDRDSLVEALLARLKQVHANHPVHYDTSADDDMASLVFHSTSMCSDHRFGDLEMMSSQNSEESEKEKSPLMHP
DALVTAFQQSGSQSPDSRMSREQIKISLWNDHFVEYGRTVCMFRTEKIRKLVAMGIPESLRGRLWLLFSDAVTDLASHPGYYGNLVEESL
GKCCLVTEEIERDLHRSLPEHPAFQNETGIAALRRVLTAYAHRNPKIGYCQSMNILTSVLLLYTKEEEAFWLLVAVCERMLPDYFNHRVI
GAQVDQSVFEELIKGHLPELAEHMNDLSALASVSLSWFLTLFLSIMPLESAVNVVDCFFYDGIKAIFQLGLAVLEANAEDLCSSKDDGQA
LMILSRFLDHIKNEDSPGPPVGSHHAFFSDDQEPYPVTDISDLIRDSYEKFGDQSVEQIEHLRYKHRIRVLQGHEDTTKQNVLRVVIPEV
SILPEDLEELYDLFKAKTIQIEMKKRSPISTDTSLDVLEDATLRHKEELEKSKKICPLYWYKFAKTFLIWNCSPCWLKLKEFVHRIIMAP
FTDLFLIICIILNVCFLTLEHYPMSKQTNTLLNIGNLVFIGIFTAEMIFKIIAMHPYGYFQVGWNIFDSMIVFHGLIELCLANVAGMALL
RLFRMLRIFKLGKYWPTFQILMWSLSNSWVALKDLVLLLFTFIFFSAAFGMKLFGKNYEEFVCHIDKDCQLPRWHMHDFFHSFLNVFRIL
CGEWVETLWDCMEVAGQSWCIPFYLMVILIGNLLVLYLFLALVSSFSSCKDVTAEENNEAKNLQLAVARIKKGINYVLLKILCKTQNVPK
DTMDHVNEVYVKEDISDHTLSELSNTQDFLKDKEKSSGTEKNATENESQSLIPSPSVSETVPIASGESDIENLDNKEIQSKSGDGGSKEK
IKQSSSSECSTVDIAISEEEEMFYGGERSKHLKNGCRRGSSLGQISGASKKGKIWQNIRKTCCKIVENNWFKCFIGLVTLLSTGTLAFED
IYMDQRKTIKILLEYADMIFTYIFILEMLLKWMAYGFKAYFSNGWYRLDFVVVIVFCLSLIGKTREELKPLISMKFLRPLRVLSQFERMK
VVVRALIKTTLPTLNVFLVCLMIWLIFSIMGVDLFAGRFYECIDPTSGERFPSSEVMNKSRCESLLFNESMLWENAKMNFDNVGNGFLSL
LQVATFNGWITIMNSAIDSVAVNIQPHFEVNIYMYCYFINFIIFGVFLPLSMLITVIIDNFNKHKIKLGGSNIFITVKQRKQYRRLKKLM
YEDSQRPVPRPLNKLQGFIFDVVTSQAFNVIVMVLICFQAIAMMIDTDVQSLQMSIALYWINSIFVMLYTMECILKLIAFRCFYFTIAWN
IFDFMVVIFSITGLCLPMTVGSYLVPPSLVQLILLSRIIHMLRLGKGPKVFHNLMLPLMLSLPALLNIILLIFLVMFIYAVFGMYNFAYV
KKEAGINDVSNFETFGNSMLCLFQVAIFAGWDGMLDAIFNSKWSDCDPDKINPGTQVRGDCGNPSVGIFYFVSYILISWLIIVNMYIVVV
MEFLNIASKKKNKTLSEDDFRKFFQVWKRFDPDRTQYIDSSKLSDFAAALDPPLFMAKPNKGQLIALDLPMAVGDRIHCLDILLAFTKRV
MGQDVRMEKVVSEIESGFLLANPFKITCEPITTTLKRKQEAVSATIIQRAYKNYRLRRNDKNTSDIHMIDGDRDVHATKEGAYFDKAKEK

--------------------------------------------------------------
>89420_89420_2_TBC1D8-SCN7A_TBC1D8_chr2_101643844_ENST00000409318_SCN7A_chr2_167304218_ENST00000409855_length(transcript)=8417nt_BP=2651nt
TCAGAGCGCTGGGCACCGGCCGGGCTGTGGTCCCCGCGCGCCGCCGTCGCCTCTCGAGCGGGCTCGGCTCACAGCGACCGGCGGCCGGGG
AGATGTGAGCTGGGGCCGGCGGGCGCGGCCGGACCGCCGCGATGTGGCTCAAGCCCGAGGAGGTGCTGCTGAAGAACGCGCTGAAGCTCT
GGGTGACCCAGAAGAGCAGCTGCTACTTCATCCTGCAGCGGCGCCGCGGGCACGGCGAGGGGGGCGGCCGCCTCACCGGTCGCCTGGTCG
GCGCTCTGGATGCAGTGTTGGATTCCAATGCACGGGTCGCTCCATTTCGAATTCTGCTTCAAGTTCCCGGCTCCCAGGTTTATTCTCCCA
TAGCATGTGGTGAGTTACTGAATGGATCAGACGTTTACTGGGCCATAGCCACTGGTGCAACATTAGAGGAAATCAATCAGCACTGGGACT
GGCTGGAACAAAATCTCCTCCACACCTTGTCTGTCTTTGATAATAAAGATGACATTGCCAGTTTTGTCAAAGGGAAGGTAAAGGCTCTGA
TAGCCGAGGAGACCAGCAGCAGGCTCGCCGAGCAGGAGGAGGAACCCGAGAAATTCCGAGAAGCCCTGGTGAAGTTCGAGGCCAGGTTCA
ACTTCCCCGAGGCGGAGAAGCTGGTCACCTACTACTCCTGCTGCTGTTGGAAGGGCAGGGTGCCCCGCCAGGGCTGGCTGTACCTCAGCA
TCAACCACCTCTGCTTCTACTCCTTCTTCCTGGGCAAGGAACTTAAACTTGTGGTTCCGTGGGTTGATATCCAGAAATTAGAAAGAACGT
CCAATGTCTTTCTGACGGATACCATCCGAATCACCACGCAGAATAAGGAGCGTGACTTCTCCATGTTCCTGAACCTGGATGAGGTGTTTA
AGGTCATGGAGCAGCTGGCCGACGTGACGCTGCGAAGGCTGCTGGATAATGAGGTCTTTGACCTCGACCCCGATCTGCAGGAGCCGAGCC
AGATCACCAAGAGGGACCTGGAAGCCAGAGCACAGAATGAGTTCTTCCGGGCTTTCTTCAGGTTGCCGAGGAAGGAGAAGCTGCACGCGG
TTGTGGACTGTTCGCTCTGGACGCCGTTCAGTCGCTGTCACACCACGGGGCGGATGTTCGCCTCTGACAGCTACATCTGCTTTGCCAGCA
GAGAAGATGGCTGCTGTAAGATCATCCTGCCACTCAGAGAGGTGGTGAGCATCGAGAAGATGGAGGACACGAGCCTGCTGCCGCATCCCA
TCATTGTCAGTATCAGAAGCAAGGTGGCCTTCCAGTTCATTGAGCTCCGGGACCGAGACAGCCTGGTGGAGGCGCTGCTTGCGAGGTTGA
AGCAGGTCCACGCCAACCACCCCGTGCACTACGACACCTCTGCGGATGATGACATGGCTTCACTCGTGTTTCATTCAACAAGCATGTGCA
GTGACCACAGATTTGGGGATCTTGAAATGATGTCTTCTCAAAATAGCGAGGAGAGTGAGAAAGAGAAGAGCCCGCTGATGCACCCCGATG
CCCTGGTCACCGCCTTCCAGCAGTCAGGCAGCCAGAGCCCTGACTCCCGAATGTCCAGAGAACAGATAAAAATAAGCCTGTGGAATGACC
ACTTTGTGGAATACGGCAGAACCGTGTGTATGTTTCGCACAGAGAAGATTCGGAAGCTCGTAGCCATGGGCATCCCTGAATCTTTGCGAG
GGAGACTCTGGCTTCTCTTCTCAGATGCGGTGACGGATCTTGCCTCACACCCTGGTTACTACGGGAATCTGGTGGAGGAGTCCCTGGGGA
AATGCTGCCTGGTAACCGAGGAGATAGAACGAGACCTGCACCGCTCCCTGCCAGAGCACCCCGCCTTCCAGAACGAAACGGGAATTGCTG
CTTTGAGGAGAGTCTTGACGGCCTATGCCCACCGGAACCCCAAGATTGGATACTGCCAGTCCATGAACATCCTGACCTCCGTGCTGCTGC
TGTACACCAAGGAGGAGGAAGCCTTCTGGCTGTTGGTTGCTGTGTGTGAGCGGATGCTGCCCGATTACTTCAACCACCGAGTGATCGGGG
CACAAGTTGACCAGTCTGTCTTCGAGGAGCTCATCAAGGGTCATCTCCCAGAGCTGGCAGAGCACATGAACGACCTCTCAGCCCTGGCGT
CCGTCTCTCTCTCGTGGTTCCTGACCCTGTTCCTCAGCATCATGCCTCTAGAGAGTGCGGTGAATGTGGTAGACTGCTTCTTCTATGATG
GCATCAAAGCCATCTTCCAGCTGGGACTGGCTGTGCTTGAGGCCAATGCTGAGGACCTGTGCAGCAGCAAGGATGATGGCCAGGCCTTGA
TGATCCTCAGCAGGTTTCTAGATCACATTAAGAATGAGGACAGCCCAGGGCCCCCAGTTGGCAGCCACCATGCCTTTTTCTCCGACGACC
AGGAGCCCTACCCTGTGACTGATATTTCGGACCTGATCCGGGATTCCTATGAGAAATTTGGAGACCAGTCTGTGGAGCAGATCGAGCACC
TACGTTACAAGCACAGGATCAGGGTCCTCCAAGGCCACGAGGACACCACAAAGCAGAACGTGCTTCGAGTCGTTATCCCGGAAGTCTCAA
TTCTTCCTGAAGACCTAGAGGAGCTCTACGACTTATTCAAGGCCAAGACCATACAAATAGAAATGAAGAAAAGGTCACCAATTTCCACAG
ACACATCATTGGATGTGTTGGAAGATGCTACTCTCAGACATAAGGAAGAACTTGAAAAATCCAAGAAGATATGCCCATTATACTGGTATA
AGTTTGCTAAAACTTTCTTGATCTGGAATTGTTCTCCCTGTTGGTTAAAATTGAAAGAGTTTGTCCATAGGATTATAATGGCACCATTTA
CTGATCTTTTCCTTATCATATGCATAATTTTAAACGTATGTTTTCTGACCTTGGAGCATTATCCAATGAGTAAACAAACTAACACTCTTC
TCAACATTGGAAACCTGGTTTTCATTGGAATTTTCACAGCAGAAATGATTTTTAAAATAATTGCAATGCATCCATATGGGTATTTCCAAG
TAGGTTGGAACATTTTTGATAGCATGATAGTGTTCCATGGTTTAATAGAACTTTGTCTAGCAAATGTTGCAGGAATGGCTCTTCTTCGAT
TATTCAGGATGTTAAGAATTTTCAAGTTGGGAAAGTATTGGCCAACATTCCAGATTTTGATGTGGTCTCTTAGTAACTCATGGGTGGCCC
TGAAAGACTTGGTCCTGTTGTTGTTCACATTCATCTTCTTTTCTGCTGCATTCGGCATGAAGCTGTTTGGTAAGAATTATGAAGAATTTG
TCTGCCACATAGACAAAGACTGTCAACTCCCACGCTGGCACATGCATGACTTTTTCCACTCCTTCCTGAATGTGTTCCGAATTCTCTGTG
GAGAGTGGGTAGAGACCTTGTGGGACTGTATGGAGGTTGCAGGCCAATCCTGGTGTATTCCTTTTTACCTGATGGTCATTTTAATTGGAA
ATTTACTGGTACTTTACCTGTTTCTGGCATTGGTGAGCTCATTTAGTTCATGCAAGGATGTAACAGCTGAAGAGAATAATGAAGCAAAAA
ATCTCCAGCTTGCAGTGGCAAGAATTAAAAAAGGAATAAACTATGTGCTTCTTAAAATACTATGCAAAACACAAAATGTCCCAAAGGACA
CAATGGACCATGTAAATGAGGTATATGTTAAAGAAGATATTTCTGACCATACCCTTTCTGAATTGAGCAACACCCAAGATTTTCTCAAAG
ATAAGGAAAAAAGCAGTGGCACAGAGAAAAACGCTACTGAAAATGAGAGCCAATCACTTATCCCCAGTCCTAGTGTCTCAGAAACTGTAC
CAATTGCTTCAGGAGAATCTGATATAGAAAATCTGGATAATAAGGAGATTCAGAGTAAGTCTGGTGATGGAGGCAGCAAAGAGAAAATAA
AGCAATCTAGCTCATCTGAATGCAGTACTGTTGATATTGCTATCTCTGAAGAAGAAGAAATGTTCTATGGAGGTGAAAGATCAAAGCATC
TGAAAAATGGTTGCAGACGCGGATCTTCACTTGGTCAAATCAGTGGAGCATCCAAGAAAGGAAAAATCTGGCAGAACATCAGGAAAACCT
GCTGCAAGATTGTAGAGAACAATTGGTTTAAGTGTTTTATTGGGCTTGTTACTCTGCTCAGCACTGGCACTCTGGCTTTTGAAGATATAT
ATATGGATCAGAGAAAGACAATTAAAATTTTATTAGAATATGCTGACATGATCTTTACTTATATCTTCATTCTGGAAATGCTTCTAAAAT
GGATGGCATATGGTTTTAAGGCCTATTTCTCTAATGGCTGGTACAGGCTGGACTTCGTGGTTGTTATTGTGTTTTGTCTTAGCTTAATAG
GCAAAACTCGGGAAGAACTAAAACCTCTTATTTCCATGAAATTCCTTCGGCCCCTCAGAGTTCTATCTCAATTTGAAAGAATGAAGGTGG
TTGTGAGAGCTTTGATCAAAACAACCTTACCCACTTTGAATGTGTTTCTTGTCTGCCTGATGATCTGGCTGATTTTTAGTATCATGGGAG
TAGACTTATTTGCTGGCAGATTCTATGAATGCATTGACCCAACAAGTGGAGAAAGGTTTCCTTCATCTGAAGTCATGAATAAGAGTCGGT
GTGAAAGCCTTCTGTTTAACGAATCCATGCTATGGGAAAATGCAAAAATGAACTTTGATAATGTTGGAAATGGTTTCCTTTCTCTGCTTC
AAGTAGCAACATTTAATGGATGGATCACTATTATGAATTCAGCAATTGATTCTGTTGCTGTTAATATACAGCCTCATTTTGAAGTCAACA
TCTACATGTATTGTTACTTTATCAACTTTATTATATTTGGAGTATTTCTCCCTCTGAGTATGCTGATTACTGTTATTATTGATAATTTCA
ACAAGCATAAAATAAAGCTGGGAGGCTCAAATATCTTTATAACGGTTAAACAGAGAAAACAGTACCGCAGGCTGAAGAAGCTAATGTATG
AGGATTCTCAAAGACCAGTACCTCGCCCATTAAACAAGCTCCAAGGATTCATCTTTGATGTGGTAACAAGCCAAGCTTTTAATGTCATTG
TTATGGTTCTTATATGTTTCCAAGCAATAGCCATGATGATAGACACTGATGTTCAGAGTCTACAAATGTCCATTGCTCTCTACTGGATTA
ACTCAATTTTTGTTATGCTATATACTATGGAATGTATACTGAAGCTCATCGCTTTCCGTTGTTTTTATTTCACCATTGCGTGGAACATTT
TTGATTTTATGGTGGTTATTTTCTCCATCACAGGACTATGTCTGCCTATGACAGTAGGATCCTACCTTGTGCCTCCTTCACTTGTGCAAC
TGATACTTCTCTCACGGATCATTCACATGCTGCGTCTTGGAAAAGGACCAAAGGTGTTTCATAATCTGATGCTTCCTTTGATGCTGTCCC
TCCCAGCATTATTGAACATCATTCTTCTCATCTTCCTGGTCATGTTCATCTATGCCGTATTTGGAATGTATAATTTTGCCTATGTTAAAA
AAGAAGCTGGAATTAATGATGTGTCTAATTTTGAAACCTTTGGCAACAGTATGCTCTGTCTTTTTCAAGTTGCAATATTTGCTGGTTGGG
ATGGGATGCTTGATGCAATTTTCAACAGTAAATGGTCTGACTGTGATCCTGATAAAATTAACCCTGGGACTCAAGTTAGAGGAGATTGTG
GGAACCCCTCTGTTGGGATTTTTTATTTTGTCAGTTATATCCTCATATCATGGCTGATCATTGTAAATATGTACATTGTTGTTGTCATGG
AGTTTTTAAATATTGCTTCTAAGAAGAAAAACAAGACCTTGAGTGAAGATGATTTTAGGAAATTCTTTCAGGTATGGAAAAGGTTTGATC
CTGATAGGACCCAGTACATAGACTCTAGCAAGCTTTCAGATTTTGCAGCTGCTCTTGATCCTCCTCTTTTCATGGCAAAACCAAACAAGG
GCCAGCTCATTGCTTTGGACCTCCCCATGGCTGTTGGGGACAGAATTCATTGCCTCGATATCTTACTTGCTTTTACAAAGAGAGTTATGG
GTCAAGATGTGAGGATGGAGAAAGTTGTTTCAGAAATAGAATCAGGGTTTTTGTTAGCCAACCCTTTTAAGATCACATGTGAGCCAATTA
CGACTACTTTGAAACGAAAACAAGAGGCAGTTTCAGCAACCATCATTCAACGTGCTTATAAAAATTACCGCTTGAGGCGAAATGACAAAA
ATACATCAGATATTCATATGATAGATGGTGACAGAGATGTTCATGCTACTAAAGAAGGTGCCTATTTTGACAAAGCTAAGGAAAAGTCAC
CTATTCAAAGCCAGATCTAATACCACTTACCACCTCTTTTCATATTTCTTCACATATCTGAAAAATGTTGAAAGCCTAAGCCAGGAATAA
AAGAAAAGTAGAGATAATAATCAGTTCTTTACAACCGATGGTAATTAAGCTTGTATTCACAAGACTTCATGCCAAATTCACTTTTTAGCA
TTATATCTAACAAATCAAGAGAATCCTTAATATTGCTGCAGTGAGTTTAAAGTGGGTTAAAGTGGCCATTTGACAATCTCATATTTGTTT
TCTCTACATGGCTTATATGATGTGTGCCTTCTAGGGAATGAAGGGAAGTGGTGATAGAGATCAGCAGCAGCAGGGGCTTTCTTTTATATT
TTATGTATAATTTAATGGGCTTTAAGTCACCACTATTAAGACTTACAAATAAGCAAATACTTTCCTGATGTGGGATGGTGAAATGCTAAT
GGCCATTAAATCATAAACTTGCCTAGACAAAAGCCAATTGGAAGAAGGGAGAGAGCAGTTCTTTAGAAAGTGCCTTTGAGATCAACCTCA
GAGATTCTTGGGCTGATTAAAACTGCATTTGAAAAAGATTGGTTGAAGCTCTGTGTTTATTTTTGTATGTTCTTGTTTTCATTTGGAACT
GGGAATGAATAGGATTTCATTGTGCTCAAGCTCCTGGTTTCTCATCTCTGGATAGTTTCACCTAAGCTCTGGCTCTTAAGCAGGACAGAT
TCGTAAAACAAGAAGCATAAAGGAGAGGTATAGCCTTTTTTTTTTTTTTTTTTTTCATTTTCTTCTCATTTACACCTATTTTTTTAAAAA
GTATACATTTACTAAAATGATGTAATAAATAACATGTTAATAGACTCAAGCTTTACCTTATGAAATTGATGTATTTTTACCAGTTATTTC
TAATGTAACATTGAATATATAAGATCTGACAAATGTATGTTTAAACATGAATTAGAAGAGTTGAGAACTACCATTATGTATAGGGATTCT
CATAGTGTCTTGGCCCTTAATTGGAAAGTTGTGGCAACTTTAAAGTACTTTTTACTGTATGTTATAATTCTTTATAACTTAGAGAGAGAC
AATGGTCACTCAAACTATGAGAACTATGAATTAGGAGATAAAAGTTTAAATTTGTTGTTGTTTTATAACAGTATGTACAAGTTAGTTTTC
CCTTATATATTTACGTTTTCAAGTTTTTTAATCTCATCATATACATCCATACTCTATAAAATGTTTTATATTCAAAGAACTGTAAAATCC
TAAACATTAGTTTTCACTATTGAAATTGTTTTTTAAAGATAGGCATAAATAGTTGTCCTTAGACTTATTCATACAAATATAGTCATTTAC
TTCTATGTAGTTTGAGATTCTGAGAGTTATTCCAACTTTATGAAGATTGATTTCAATGTGCCTGCTAAGTCCTAAAAGATTCAGAAAGAA
AATTTATATATTATTGATTTAAATATCATCCTTTAAATATGTTGTATAACATTCAATATAGTTTATGTATCAGTGATTGTATTTTATTCT
GAATGCATGATCTCAAGCCTTAACTACTATAATCTTTTTCTGCCCCTCAGAAATTGAATAACCTAACCAAGATGCCTTTAGGGGATGCCC
TAAGTAAATGTAATTTCAGATTTCAGGGTTTTTTTTTTTTCCTCTCTAAGTGTTCCTTCCCTTTCTTCTCCTGCTCTCCATCATGTTATG
GAGACCAGTGAGGAACCAGTGTTAACTTGGTGACAATGTGACAGCTGGTGCTTTATCTAAGCTCCGTTTTCTATTTCTTGGGAATGCTTT
ATTGTGGAAACTGCTTCAGATACTTAAATTGAATCATAACTTGCTTCTGTAAATTGCGTAAAGACAACAAACTGATTTTAGTTTGAAAAG
TTTATCTTTTACTTGTAAACCTTGTTTGCCAGTTACCTTCCGAAAGCTGTGTAAAGAGTTATTTTTAACAAAGTCTTAACAATATATGTT

>89420_89420_2_TBC1D8-SCN7A_TBC1D8_chr2_101643844_ENST00000409318_SCN7A_chr2_167304218_ENST00000409855_length(amino acids)=2092AA_BP=838
MWLKPEEVLLKNALKLWVTQKSSCYFILQRRRGHGEGGGRLTGRLVGALDAVLDSNARVAPFRILLQVPGSQVYSPIACGELLNGSDVYW
AIATGATLEEINQHWDWLEQNLLHTLSVFDNKDDIASFVKGKVKALIAEETSSRLAEQEEEPEKFREALVKFEARFNFPEAEKLVTYYSC
CCWKGRVPRQGWLYLSINHLCFYSFFLGKELKLVVPWVDIQKLERTSNVFLTDTIRITTQNKERDFSMFLNLDEVFKVMEQLADVTLRRL
LDNEVFDLDPDLQEPSQITKRDLEARAQNEFFRAFFRLPRKEKLHAVVDCSLWTPFSRCHTTGRMFASDSYICFASREDGCCKIILPLRE
VVSIEKMEDTSLLPHPIIVSIRSKVAFQFIELRDRDSLVEALLARLKQVHANHPVHYDTSADDDMASLVFHSTSMCSDHRFGDLEMMSSQ
NSEESEKEKSPLMHPDALVTAFQQSGSQSPDSRMSREQIKISLWNDHFVEYGRTVCMFRTEKIRKLVAMGIPESLRGRLWLLFSDAVTDL
ASHPGYYGNLVEESLGKCCLVTEEIERDLHRSLPEHPAFQNETGIAALRRVLTAYAHRNPKIGYCQSMNILTSVLLLYTKEEEAFWLLVA
VCERMLPDYFNHRVIGAQVDQSVFEELIKGHLPELAEHMNDLSALASVSLSWFLTLFLSIMPLESAVNVVDCFFYDGIKAIFQLGLAVLE
ANAEDLCSSKDDGQALMILSRFLDHIKNEDSPGPPVGSHHAFFSDDQEPYPVTDISDLIRDSYEKFGDQSVEQIEHLRYKHRIRVLQGHE
DTTKQNVLRVVIPEVSILPEDLEELYDLFKAKTIQIEMKKRSPISTDTSLDVLEDATLRHKEELEKSKKICPLYWYKFAKTFLIWNCSPC
WLKLKEFVHRIIMAPFTDLFLIICIILNVCFLTLEHYPMSKQTNTLLNIGNLVFIGIFTAEMIFKIIAMHPYGYFQVGWNIFDSMIVFHG
LIELCLANVAGMALLRLFRMLRIFKLGKYWPTFQILMWSLSNSWVALKDLVLLLFTFIFFSAAFGMKLFGKNYEEFVCHIDKDCQLPRWH
MHDFFHSFLNVFRILCGEWVETLWDCMEVAGQSWCIPFYLMVILIGNLLVLYLFLALVSSFSSCKDVTAEENNEAKNLQLAVARIKKGIN
YVLLKILCKTQNVPKDTMDHVNEVYVKEDISDHTLSELSNTQDFLKDKEKSSGTEKNATENESQSLIPSPSVSETVPIASGESDIENLDN
KEIQSKSGDGGSKEKIKQSSSSECSTVDIAISEEEEMFYGGERSKHLKNGCRRGSSLGQISGASKKGKIWQNIRKTCCKIVENNWFKCFI
GLVTLLSTGTLAFEDIYMDQRKTIKILLEYADMIFTYIFILEMLLKWMAYGFKAYFSNGWYRLDFVVVIVFCLSLIGKTREELKPLISMK
FLRPLRVLSQFERMKVVVRALIKTTLPTLNVFLVCLMIWLIFSIMGVDLFAGRFYECIDPTSGERFPSSEVMNKSRCESLLFNESMLWEN
AKMNFDNVGNGFLSLLQVATFNGWITIMNSAIDSVAVNIQPHFEVNIYMYCYFINFIIFGVFLPLSMLITVIIDNFNKHKIKLGGSNIFI
TVKQRKQYRRLKKLMYEDSQRPVPRPLNKLQGFIFDVVTSQAFNVIVMVLICFQAIAMMIDTDVQSLQMSIALYWINSIFVMLYTMECIL
KLIAFRCFYFTIAWNIFDFMVVIFSITGLCLPMTVGSYLVPPSLVQLILLSRIIHMLRLGKGPKVFHNLMLPLMLSLPALLNIILLIFLV
MFIYAVFGMYNFAYVKKEAGINDVSNFETFGNSMLCLFQVAIFAGWDGMLDAIFNSKWSDCDPDKINPGTQVRGDCGNPSVGIFYFVSYI
LISWLIIVNMYIVVVMEFLNIASKKKNKTLSEDDFRKFFQVWKRFDPDRTQYIDSSKLSDFAAALDPPLFMAKPNKGQLIALDLPMAVGD
RIHCLDILLAFTKRVMGQDVRMEKVVSEIESGFLLANPFKITCEPITTTLKRKQEAVSATIIQRAYKNYRLRRNDKNTSDIHMIDGDRDV

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Fusion Gene PPI Analysis for TBC1D8-SCN7A


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 TBC1D8-SCN7A


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 TBC1D8-SCN7A


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