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in Kim Lab

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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:ATP8A2-ALG5 (FusionGDB2 ID:HG51761TG29880)

Fusion Gene Summary for ATP8A2-ALG5

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP8A2-ALG5
Fusion gene ID: hg51761tg29880
HgeneTgene
Gene symbol

ATP8A2

ALG5

Gene ID

51761

29880

Gene nameATPase phospholipid transporting 8A2ALG5 dolichyl-phosphate beta-glucosyltransferase
SynonymsATP|ATPIB|CAMRQ4|IB|ML-1bA421P11.2
Cytomap('ATP8A2')('ALG5')

13q12.13

13q13.3

Type of geneprotein-codingprotein-coding
Descriptionphospholipid-transporting ATPase IBATPase, aminophospholipid transporter, class I, type 8A, member 2ATPase, aminophospholipid transporter-like, class I, type 8A, member 2P4-ATPase flippase complex alpha subunit ATP8A2probable phospholipid-transportingdolichyl-phosphate beta-glucosyltransferaseAlg5, S. cerevisiae, homolog ofasparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase)asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-gl
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000491840, ENST00000255283, 
ENST00000381655, 
Fusion gene scores* DoF score6 X 5 X 4=1206 X 5 X 5=150
# samples 66
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP8A2 [Title/Abstract] AND ALG5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP8A2(26436546)-ALG5(37559877), # samples:3
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 ATP8A2 (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 ALG5 (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
* 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
ChimerDB4BLCATCGA-DK-AA6P-01AATP8A2chr13

26436546

-ALG5chr13

37559877

-
ChimerDB4BLCATCGA-DK-AA6P-01AATP8A2chr13

26436546

+ALG5chr13

37559877

-
ChimerDB4BLCATCGA-DK-AA6PATP8A2chr13

26436546

+ALG5chr13

37559877

-


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Fusion Gene ORF analysis for ATP8A2-ALG5

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
3UTR-3CDSENST00000491840ENST00000239891ATP8A2chr13

26436546

+ALG5chr13

37559877

-
3UTR-3CDSENST00000491840ENST00000413537ATP8A2chr13

26436546

+ALG5chr13

37559877

-
3UTR-3CDSENST00000491840ENST00000443765ATP8A2chr13

26436546

+ALG5chr13

37559877

-
3UTR-5UTRENST00000491840ENST00000496689ATP8A2chr13

26436546

+ALG5chr13

37559877

-
5CDS-5UTRENST00000255283ENST00000496689ATP8A2chr13

26436546

+ALG5chr13

37559877

-
5CDS-5UTRENST00000381655ENST00000496689ATP8A2chr13

26436546

+ALG5chr13

37559877

-
In-frameENST00000255283ENST00000239891ATP8A2chr13

26436546

+ALG5chr13

37559877

-
In-frameENST00000255283ENST00000413537ATP8A2chr13

26436546

+ALG5chr13

37559877

-
In-frameENST00000255283ENST00000443765ATP8A2chr13

26436546

+ALG5chr13

37559877

-
In-frameENST00000381655ENST00000239891ATP8A2chr13

26436546

+ALG5chr13

37559877

-
In-frameENST00000381655ENST00000413537ATP8A2chr13

26436546

+ALG5chr13

37559877

-
In-frameENST00000381655ENST00000443765ATP8A2chr13

26436546

+ALG5chr13

37559877

-

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)
ENST00000381655ATP8A2chr1326436546+ENST00000443765ALG5chr1337559877-4020332514238521236
ENST00000381655ATP8A2chr1326436546+ENST00000239891ALG5chr1337559877-3965332514238521236
ENST00000381655ATP8A2chr1326436546+ENST00000413537ALG5chr1337559877-3906332514235701142
ENST00000255283ATP8A2chr1326436546+ENST00000443765ALG5chr1337559877-372930341935611180
ENST00000255283ATP8A2chr1326436546+ENST00000239891ALG5chr1337559877-367430341935611180
ENST00000255283ATP8A2chr1326436546+ENST00000413537ALG5chr1337559877-361530341932791086

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
ENST00000381655ENST00000443765ATP8A2chr1326436546+ALG5chr1337559877-0.0002230530.9997769
ENST00000381655ENST00000239891ATP8A2chr1326436546+ALG5chr1337559877-0.0002594920.99974054
ENST00000381655ENST00000413537ATP8A2chr1326436546+ALG5chr1337559877-0.0004365190.9995635
ENST00000255283ENST00000443765ATP8A2chr1326436546+ALG5chr1337559877-0.0001511750.99984884
ENST00000255283ENST00000239891ATP8A2chr1326436546+ALG5chr1337559877-0.0001770260.99982303
ENST00000255283ENST00000413537ATP8A2chr1326436546+ALG5chr1337559877-0.0002528890.9997471

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Fusion Genomic Features for ATP8A2-ALG5


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

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Fusion Protein Features for ATP8A2-ALG5


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/chr13:26436546/chr13:37559877)
- 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
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+33371019_102810611189.0Topological domainCytoplasmic
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+33371050_106310611189.0Topological domainExtracellular
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337116_11910611189.0Topological domainExtracellular
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337141_31610611189.0Topological domainCytoplasmic
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+33371_9410611189.0Topological domainCytoplasmic
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337338_36410611189.0Topological domainExtracellular
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337386_88710611189.0Topological domainCytoplasmic
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337909_91010611189.0Topological domainExtracellular
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337932_95910611189.0Topological domainCytoplasmic
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337981_99710611189.0Topological domainExtracellular
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+33371029_104910611189.0TransmembraneHelical
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337120_14010611189.0TransmembraneHelical
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337317_33710611189.0TransmembraneHelical
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337365_38510611189.0TransmembraneHelical
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337888_90810611189.0TransmembraneHelical
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337911_93110611189.0TransmembraneHelical
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+333795_11510611189.0TransmembraneHelical
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337960_98010611189.0TransmembraneHelical
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+3337998_101810611189.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+33371085_118810611189.0Topological domainCytoplasmic
HgeneATP8A2chr13:26436546chr13:37559877ENST00000381655+33371064_108410611189.0TransmembraneHelical
TgeneALG5chr13:26436546chr13:37559877ENST000002398914101_7149325.0Topological domainCytoplasmic
TgeneALG5chr13:26436546chr13:37559877ENST0000023989141029_324149325.0Topological domainLumenal
TgeneALG5chr13:26436546chr13:37559877ENST00000443765391_7119295.0Topological domainCytoplasmic
TgeneALG5chr13:26436546chr13:37559877ENST000004437653929_324119295.0Topological domainLumenal
TgeneALG5chr13:26436546chr13:37559877ENST000002398914108_28149325.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneALG5chr13:26436546chr13:37559877ENST00000443765398_28119295.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Gene Sequence for ATP8A2-ALG5


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.
>8238_8238_1_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000255283_ALG5_chr13_37559877_ENST00000239891_length(transcript)=3674nt_BP=3034nt
AGGACCTGTTCGTTCTTCTTTGGGCTATAAGAAGGCAGAGGATGAGATGTCCCGGGCCACGTCTGTTGGAGACCAGCTGGAGGCACCCGC
CCGCACCATTTACCTCAACCAACCGCATCTCAACAAATTCCGCGACAACCAGATCAGTACGGCCAAGTACAGCGTGTTGACATTTCTACC
TCGATTCTTGTATGAGCAGATTAGAAGAGCTGCTAATGCCTTCTTTCTCTTCATTGCCTTATTACAGCAAATTCCAGATGTATCTCCAAC
AGGAAGATATACCACCCTGGTGCCATTGATCATTATTTTAACAATTGCAGGCATCAAAGAGATTGTAGAAGATTTTAAGCGACACAAGGC
AGACAATGCAGTTAACAAAAAGAAAACAATAGTGTTAAGAAATGGTATGTGGCATACCATTATGTGGAAAGAGGTGGCAGTGGGAGACAT
TGTGAAGGTCGTCAATGGGCAGTATCTTCCAGCAGATGTGGTCCTGCTGTCATCCAGTGAACCTCAGGCAATGTGTTATGTTGAAACAGC
TAATCTGGATGGGGAGACGAACCTTAAAATACGTCAGGGTTTGAGTCACACTGCTGACATGCAAACACGTGAAGTTCTGATGAAGTTATC
TGGAACTATAGAGTGTGAAGGGCCCAACCGCCACCTCTATGACTTCACTGGAAACTTGAACTTAGATGGGAAAAGCCTTGTTGCCCTTGG
GCCTGACCAGATCTTATTAAGAGGTACACAGCTTAGAAATACTCAGTGGGTCTTTGGCATAGTTGTTTATACTGGACACGACACCAAACT
CATGCAGAATTCAACCAAAGCGCCTCTCAAGAGATCAAATGTTGAGAAGGTGACTAACGTGCAGATCCTGGTGTTGTTTGGCATCCTCTT
GGTCATGGCCTTGGTGAGCTCGGCGGGGGCCCTGTACTGGAACAGGTCTCATGGTGAAAAGAACTGGTACATCAAGAAGATGGACACCAC
CTCAGATAATTTTGGATACAACCTACTGACGTTCATCATCTTATACAACAATCTTATTCCCATCAGTCTGTTGGTGACTCTTGAGGTTGT
GAAGTATACTCAAGCCCTTTTCATAAACTGGGACACAGATATGTATTATATAGGAAATGACACTCCTGCCATGGCCAGGACATCAAACCT
TAATGAAGAGCTTGGGCAGGTGAAATATCTCTTTTCTGACAAGACTGGAACGCTTACATGCAATATCATGAACTTTAAGAAGTGCAGCAT
TGCCGGAGTAACCTATGGTCACTTCCCAGAATTGGCAAGAGAGCCGTCTTCAGATGACTTCTGTCGGATGCCTCCTCCCTGTAGTGATTC
CTGTGACTTTGATGACCCCAGGCTGTTGAAGAACATTGAGGATCGCCATCCCACAGCCCCTTGCATTCAGGAGTTCCTCACCCTTCTGGC
CGTGTGCCACACGGTTGTTCCTGAGAAGGATGGAGATAACATCATCTACCAGGCCTCTTCCCCAGATGAAGCTGCTTTGGTGAAAGGAGC
TAAAAAGCTGGGCTTTGTCTTCACAGCCAGAACACCATTCTCAGTCATCATAGAAGCGATGGGACAGGAACAAACATTCGGAATCCTTAA
TGTCCTGGAATTTTCTAGTGACAGAAAAAGAATGTCTGTAATTGTTCGAACTCCTTCAGGACGACTTCGGCTTTACTGTAAAGGGGCTGA
TAATGTGATTTTTGAGAGACTTTCAAAAGACTCAAAATATATGGAGGAAACATTATGCCATCTGGAATACTTTGCCACGGAAGGCTTGCG
GACTCTCTGTGTGGCTTATGCTGATCTCTCTGAGAATGAGTATGAGGAGTGGCTGAAAGTCTATCAGGAAGCCAGCACCATATTGAAGGA
CAGAGCTCAACGGTTGGAAGAGTGTTACGAGATCATTGAGAAGAATTTGCTGCTACTTGGAGCCACAGCCATAGAAGATCGCCTTCAAGC
AGGAGTTCCAGAAACCATCGCAACACTGTTGAAGGCAGAAATTAAAATATGGGTGTTGACAGGAGACAAACAAGAAACTGCGATTAATAT
AGGGTATTCCTGCCGATTGGTATCGCAGAATATGGCCCTTATCCTATTGAAGGAGGACTCTTTGGATGCCACAAGGGCAGCCATTACTCA
GCACTGCACTGACCTTGGGAATTTGCTGGGCAAGGAAAATGACGTGGCCCTGATCATCGATGGCCACACCCTGAAGTACGCGCTCTCCTT
CGAAGTCCGGAGGAGTTTCCTGGATTTGGCACTCTCGTGCAAAGCGGTCATATGCTGCAGAGTGTCTCCTCTGCAGAAGTCTGAGATAGT
GGATGTGGTGAAGAAGCGGGTGAAGGCCATCACCCTCGCCATCGGAGACGGCGCCAACGATGTCGGGATGATCCAGACAGCCCACGTGGG
TGTGGGAATCAGTGGGAATGAAGGCATGCAGGCCACCAACAACTCGGATTACGCCATCGCACAGTTTTCCTACTTAGAGAAGCTTCTGTT
GGTTCATGGAGCCTGGAGCTACAACCGGGTGACCAAGTGCATCTTGTACTGCTTCTATAAGAACGTGGTCCTGTATATTATTGAGATTTT
CACCGCTTTGCCGCCCTTCACTCTGGGAATCTTTGAGAGGTCTTGCACTCAGGAGAGCATGCTCAGGTTTCCCCAGCTCTACAAAATCAC
CCAGAATGGCGAAGGCTTCAACACAAAGGTTTTCTGGGGTCACTGCATCAACGCCTTGGTCCACTCCCTCATCCTCTTCTGGTTTCCCAT
GAAAGCTCTGGAGCATGATACTGTGTTGACAAGTGGTCATGCTACCGACTATTTATTTGTTGGAAATATTGTTTACACATATGTTGTTGT
TACTGTTTGTCTGAAAGCTGGTTTGGAGACCACAGCTTGGACTAAATTCAGTCATCTGGCTGTCTGGGGAAGCATGCTGACCTGGCTGGT
GTTTTTTGGCATCTACTCGACCATCTGGCCCACCATTCCCATTGCTCCAGATATGAGAGGACAGGGTATATTCAGTTCTCGAGGAGAAAA
GATCCTTATGGCAGATGCTGATGGAGCCACAAAGTTTCCAGATGTTGAGAAATTAGAAAAGGGGCTAAATGATCTACAGCCTTGGCCTAA
TCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGCGTTCTTACTTCCGTACTCTTCTCATGTATGG
GTTCCACTTTCTGGTGTGGTTCCTTTGTGTCAAAGGAATCAGGGACACACAGTGTGGGTTCAAATTATTTACTCGAGAAGCAGCTTCACG
GACGTTTTCATCTCTACACGTTGAACGATGGGCATTTGATGTAGAACTACTGTACATAGCACAGTTCTTTAAAATTCCAATAGCAGAAAT
TGCTGTCAACTGGACAGAAATTGAAGGTTCTAAATTAGTTCCATTCTGGAGCTGGCTACAAATGGGTAAAGACCTACTTTTTATACGACT
TCGATATTTGACTGGTGCCTGGAGGCTTGAGCAAACTCGGAAAATGAATTAGGTTGTTTGCAGTCTTCAGTTGTGTTCTTATGCTTCAGT

>8238_8238_1_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000255283_ALG5_chr13_37559877_ENST00000239891_length(amino acids)=1180AA_BP=1004
MGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHLNKFRDNQISTAKYSVLTFLPRFLYEQIRRAANAFFLFIALLQQIPDVSPTGRYTTL
VPLIIILTIAGIKEIVEDFKRHKADNAVNKKKTIVLRNGMWHTIMWKEVAVGDIVKVVNGQYLPADVVLLSSSEPQAMCYVETANLDGET
NLKIRQGLSHTADMQTREVLMKLSGTIECEGPNRHLYDFTGNLNLDGKSLVALGPDQILLRGTQLRNTQWVFGIVVYTGHDTKLMQNSTK
APLKRSNVEKVTNVQILVLFGILLVMALVSSAGALYWNRSHGEKNWYIKKMDTTSDNFGYNLLTFIILYNNLIPISLLVTLEVVKYTQAL
FINWDTDMYYIGNDTPAMARTSNLNEELGQVKYLFSDKTGTLTCNIMNFKKCSIAGVTYGHFPELAREPSSDDFCRMPPPCSDSCDFDDP
RLLKNIEDRHPTAPCIQEFLTLLAVCHTVVPEKDGDNIIYQASSPDEAALVKGAKKLGFVFTARTPFSVIIEAMGQEQTFGILNVLEFSS
DRKRMSVIVRTPSGRLRLYCKGADNVIFERLSKDSKYMEETLCHLEYFATEGLRTLCVAYADLSENEYEEWLKVYQEASTILKDRAQRLE
ECYEIIEKNLLLLGATAIEDRLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCRLVSQNMALILLKEDSLDATRAAITQHCTDLG
NLLGKENDVALIIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKKRVKAITLAIGDGANDVGMIQTAHVGVGISGN
EGMQATNNSDYAIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIEIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGF
NTKVFWGHCINALVHSLILFWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVWGSMLTWLVFFGIYS
TIWPTIPIAPDMRGQGIFSSRGEKILMADADGATKFPDVEKLEKGLNDLQPWPNQMAIACGSRAHLEKESIAQRSYFRTLLMYGFHFLVW
FLCVKGIRDTQCGFKLFTREAASRTFSSLHVERWAFDVELLYIAQFFKIPIAEIAVNWTEIEGSKLVPFWSWLQMGKDLLFIRLRYLTGA

--------------------------------------------------------------
>8238_8238_2_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000255283_ALG5_chr13_37559877_ENST00000413537_length(transcript)=3615nt_BP=3034nt
AGGACCTGTTCGTTCTTCTTTGGGCTATAAGAAGGCAGAGGATGAGATGTCCCGGGCCACGTCTGTTGGAGACCAGCTGGAGGCACCCGC
CCGCACCATTTACCTCAACCAACCGCATCTCAACAAATTCCGCGACAACCAGATCAGTACGGCCAAGTACAGCGTGTTGACATTTCTACC
TCGATTCTTGTATGAGCAGATTAGAAGAGCTGCTAATGCCTTCTTTCTCTTCATTGCCTTATTACAGCAAATTCCAGATGTATCTCCAAC
AGGAAGATATACCACCCTGGTGCCATTGATCATTATTTTAACAATTGCAGGCATCAAAGAGATTGTAGAAGATTTTAAGCGACACAAGGC
AGACAATGCAGTTAACAAAAAGAAAACAATAGTGTTAAGAAATGGTATGTGGCATACCATTATGTGGAAAGAGGTGGCAGTGGGAGACAT
TGTGAAGGTCGTCAATGGGCAGTATCTTCCAGCAGATGTGGTCCTGCTGTCATCCAGTGAACCTCAGGCAATGTGTTATGTTGAAACAGC
TAATCTGGATGGGGAGACGAACCTTAAAATACGTCAGGGTTTGAGTCACACTGCTGACATGCAAACACGTGAAGTTCTGATGAAGTTATC
TGGAACTATAGAGTGTGAAGGGCCCAACCGCCACCTCTATGACTTCACTGGAAACTTGAACTTAGATGGGAAAAGCCTTGTTGCCCTTGG
GCCTGACCAGATCTTATTAAGAGGTACACAGCTTAGAAATACTCAGTGGGTCTTTGGCATAGTTGTTTATACTGGACACGACACCAAACT
CATGCAGAATTCAACCAAAGCGCCTCTCAAGAGATCAAATGTTGAGAAGGTGACTAACGTGCAGATCCTGGTGTTGTTTGGCATCCTCTT
GGTCATGGCCTTGGTGAGCTCGGCGGGGGCCCTGTACTGGAACAGGTCTCATGGTGAAAAGAACTGGTACATCAAGAAGATGGACACCAC
CTCAGATAATTTTGGATACAACCTACTGACGTTCATCATCTTATACAACAATCTTATTCCCATCAGTCTGTTGGTGACTCTTGAGGTTGT
GAAGTATACTCAAGCCCTTTTCATAAACTGGGACACAGATATGTATTATATAGGAAATGACACTCCTGCCATGGCCAGGACATCAAACCT
TAATGAAGAGCTTGGGCAGGTGAAATATCTCTTTTCTGACAAGACTGGAACGCTTACATGCAATATCATGAACTTTAAGAAGTGCAGCAT
TGCCGGAGTAACCTATGGTCACTTCCCAGAATTGGCAAGAGAGCCGTCTTCAGATGACTTCTGTCGGATGCCTCCTCCCTGTAGTGATTC
CTGTGACTTTGATGACCCCAGGCTGTTGAAGAACATTGAGGATCGCCATCCCACAGCCCCTTGCATTCAGGAGTTCCTCACCCTTCTGGC
CGTGTGCCACACGGTTGTTCCTGAGAAGGATGGAGATAACATCATCTACCAGGCCTCTTCCCCAGATGAAGCTGCTTTGGTGAAAGGAGC
TAAAAAGCTGGGCTTTGTCTTCACAGCCAGAACACCATTCTCAGTCATCATAGAAGCGATGGGACAGGAACAAACATTCGGAATCCTTAA
TGTCCTGGAATTTTCTAGTGACAGAAAAAGAATGTCTGTAATTGTTCGAACTCCTTCAGGACGACTTCGGCTTTACTGTAAAGGGGCTGA
TAATGTGATTTTTGAGAGACTTTCAAAAGACTCAAAATATATGGAGGAAACATTATGCCATCTGGAATACTTTGCCACGGAAGGCTTGCG
GACTCTCTGTGTGGCTTATGCTGATCTCTCTGAGAATGAGTATGAGGAGTGGCTGAAAGTCTATCAGGAAGCCAGCACCATATTGAAGGA
CAGAGCTCAACGGTTGGAAGAGTGTTACGAGATCATTGAGAAGAATTTGCTGCTACTTGGAGCCACAGCCATAGAAGATCGCCTTCAAGC
AGGAGTTCCAGAAACCATCGCAACACTGTTGAAGGCAGAAATTAAAATATGGGTGTTGACAGGAGACAAACAAGAAACTGCGATTAATAT
AGGGTATTCCTGCCGATTGGTATCGCAGAATATGGCCCTTATCCTATTGAAGGAGGACTCTTTGGATGCCACAAGGGCAGCCATTACTCA
GCACTGCACTGACCTTGGGAATTTGCTGGGCAAGGAAAATGACGTGGCCCTGATCATCGATGGCCACACCCTGAAGTACGCGCTCTCCTT
CGAAGTCCGGAGGAGTTTCCTGGATTTGGCACTCTCGTGCAAAGCGGTCATATGCTGCAGAGTGTCTCCTCTGCAGAAGTCTGAGATAGT
GGATGTGGTGAAGAAGCGGGTGAAGGCCATCACCCTCGCCATCGGAGACGGCGCCAACGATGTCGGGATGATCCAGACAGCCCACGTGGG
TGTGGGAATCAGTGGGAATGAAGGCATGCAGGCCACCAACAACTCGGATTACGCCATCGCACAGTTTTCCTACTTAGAGAAGCTTCTGTT
GGTTCATGGAGCCTGGAGCTACAACCGGGTGACCAAGTGCATCTTGTACTGCTTCTATAAGAACGTGGTCCTGTATATTATTGAGATTTT
CACCGCTTTGCCGCCCTTCACTCTGGGAATCTTTGAGAGGTCTTGCACTCAGGAGAGCATGCTCAGGTTTCCCCAGCTCTACAAAATCAC
CCAGAATGGCGAAGGCTTCAACACAAAGGTTTTCTGGGGTCACTGCATCAACGCCTTGGTCCACTCCCTCATCCTCTTCTGGTTTCCCAT
GAAAGCTCTGGAGCATGATACTGTGTTGACAAGTGGTCATGCTACCGACTATTTATTTGTTGGAAATATTGTTTACACATATGTTGTTGT
TACTGTTTGTCTGAAAGCTGGTTTGGAGACCACAGCTTGGACTAAATTCAGTCATCTGGCTGTCTGGGGAAGCATGCTGACCTGGCTGGT
GTTTTTTGGCATCTACTCGACCATCTGGCCCACCATTCCCATTGCTCCAGATATGAGAGGACAGGGTATATTCAGTTCTCGAGGAGAAAA
GATCCTTATGGCAGATGCTGATGGAGCCACAAAGTTTCCAGATGTTGAGAAATTAGAAAAGGGGCTAAATGATCTACAGCCTTGGCCTAA
TCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGCATAAGTGCTCTTTTGGAGGTTTAATCAGTCA
ACCAGTATTTATTGGAAGTATTTTGTATGGAAGGCACTGAGCAAGCTGTTGTGAGATTCCTAAAGTATTTTAAGATGAGGTTTCTGCCCT
ATCTACTTAGAGAGCGTTCTTACTTCCGTACTCTTCTCATGTATGGGTTCCACTTTCTGGTGTGGTTCCTTTGTGTCAAAGGAATCAGGG
ACACACAGTGTGGGTTCAAATTATTTACTCGAGAAGCAGCTTCACGGACGTTTTCATCTCTACACGTTGAACGATGGGCATTTGATGTAG
AACTACTGTACATAGCACAGTTCTTTAAAATTCCAATAGCAGAAATTGCTGTCAACTGGACAGAAATTGAAGGTTCTAAATTAGTTCCAT

>8238_8238_2_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000255283_ALG5_chr13_37559877_ENST00000413537_length(amino acids)=1086AA_BP=1004
MGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHLNKFRDNQISTAKYSVLTFLPRFLYEQIRRAANAFFLFIALLQQIPDVSPTGRYTTL
VPLIIILTIAGIKEIVEDFKRHKADNAVNKKKTIVLRNGMWHTIMWKEVAVGDIVKVVNGQYLPADVVLLSSSEPQAMCYVETANLDGET
NLKIRQGLSHTADMQTREVLMKLSGTIECEGPNRHLYDFTGNLNLDGKSLVALGPDQILLRGTQLRNTQWVFGIVVYTGHDTKLMQNSTK
APLKRSNVEKVTNVQILVLFGILLVMALVSSAGALYWNRSHGEKNWYIKKMDTTSDNFGYNLLTFIILYNNLIPISLLVTLEVVKYTQAL
FINWDTDMYYIGNDTPAMARTSNLNEELGQVKYLFSDKTGTLTCNIMNFKKCSIAGVTYGHFPELAREPSSDDFCRMPPPCSDSCDFDDP
RLLKNIEDRHPTAPCIQEFLTLLAVCHTVVPEKDGDNIIYQASSPDEAALVKGAKKLGFVFTARTPFSVIIEAMGQEQTFGILNVLEFSS
DRKRMSVIVRTPSGRLRLYCKGADNVIFERLSKDSKYMEETLCHLEYFATEGLRTLCVAYADLSENEYEEWLKVYQEASTILKDRAQRLE
ECYEIIEKNLLLLGATAIEDRLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCRLVSQNMALILLKEDSLDATRAAITQHCTDLG
NLLGKENDVALIIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKKRVKAITLAIGDGANDVGMIQTAHVGVGISGN
EGMQATNNSDYAIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIEIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGF
NTKVFWGHCINALVHSLILFWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVWGSMLTWLVFFGIYS
TIWPTIPIAPDMRGQGIFSSRGEKILMADADGATKFPDVEKLEKGLNDLQPWPNQMAIACGSRAHLEKESIAQHKCSFGGLISQPVFIGS

--------------------------------------------------------------
>8238_8238_3_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000255283_ALG5_chr13_37559877_ENST00000443765_length(transcript)=3729nt_BP=3034nt
AGGACCTGTTCGTTCTTCTTTGGGCTATAAGAAGGCAGAGGATGAGATGTCCCGGGCCACGTCTGTTGGAGACCAGCTGGAGGCACCCGC
CCGCACCATTTACCTCAACCAACCGCATCTCAACAAATTCCGCGACAACCAGATCAGTACGGCCAAGTACAGCGTGTTGACATTTCTACC
TCGATTCTTGTATGAGCAGATTAGAAGAGCTGCTAATGCCTTCTTTCTCTTCATTGCCTTATTACAGCAAATTCCAGATGTATCTCCAAC
AGGAAGATATACCACCCTGGTGCCATTGATCATTATTTTAACAATTGCAGGCATCAAAGAGATTGTAGAAGATTTTAAGCGACACAAGGC
AGACAATGCAGTTAACAAAAAGAAAACAATAGTGTTAAGAAATGGTATGTGGCATACCATTATGTGGAAAGAGGTGGCAGTGGGAGACAT
TGTGAAGGTCGTCAATGGGCAGTATCTTCCAGCAGATGTGGTCCTGCTGTCATCCAGTGAACCTCAGGCAATGTGTTATGTTGAAACAGC
TAATCTGGATGGGGAGACGAACCTTAAAATACGTCAGGGTTTGAGTCACACTGCTGACATGCAAACACGTGAAGTTCTGATGAAGTTATC
TGGAACTATAGAGTGTGAAGGGCCCAACCGCCACCTCTATGACTTCACTGGAAACTTGAACTTAGATGGGAAAAGCCTTGTTGCCCTTGG
GCCTGACCAGATCTTATTAAGAGGTACACAGCTTAGAAATACTCAGTGGGTCTTTGGCATAGTTGTTTATACTGGACACGACACCAAACT
CATGCAGAATTCAACCAAAGCGCCTCTCAAGAGATCAAATGTTGAGAAGGTGACTAACGTGCAGATCCTGGTGTTGTTTGGCATCCTCTT
GGTCATGGCCTTGGTGAGCTCGGCGGGGGCCCTGTACTGGAACAGGTCTCATGGTGAAAAGAACTGGTACATCAAGAAGATGGACACCAC
CTCAGATAATTTTGGATACAACCTACTGACGTTCATCATCTTATACAACAATCTTATTCCCATCAGTCTGTTGGTGACTCTTGAGGTTGT
GAAGTATACTCAAGCCCTTTTCATAAACTGGGACACAGATATGTATTATATAGGAAATGACACTCCTGCCATGGCCAGGACATCAAACCT
TAATGAAGAGCTTGGGCAGGTGAAATATCTCTTTTCTGACAAGACTGGAACGCTTACATGCAATATCATGAACTTTAAGAAGTGCAGCAT
TGCCGGAGTAACCTATGGTCACTTCCCAGAATTGGCAAGAGAGCCGTCTTCAGATGACTTCTGTCGGATGCCTCCTCCCTGTAGTGATTC
CTGTGACTTTGATGACCCCAGGCTGTTGAAGAACATTGAGGATCGCCATCCCACAGCCCCTTGCATTCAGGAGTTCCTCACCCTTCTGGC
CGTGTGCCACACGGTTGTTCCTGAGAAGGATGGAGATAACATCATCTACCAGGCCTCTTCCCCAGATGAAGCTGCTTTGGTGAAAGGAGC
TAAAAAGCTGGGCTTTGTCTTCACAGCCAGAACACCATTCTCAGTCATCATAGAAGCGATGGGACAGGAACAAACATTCGGAATCCTTAA
TGTCCTGGAATTTTCTAGTGACAGAAAAAGAATGTCTGTAATTGTTCGAACTCCTTCAGGACGACTTCGGCTTTACTGTAAAGGGGCTGA
TAATGTGATTTTTGAGAGACTTTCAAAAGACTCAAAATATATGGAGGAAACATTATGCCATCTGGAATACTTTGCCACGGAAGGCTTGCG
GACTCTCTGTGTGGCTTATGCTGATCTCTCTGAGAATGAGTATGAGGAGTGGCTGAAAGTCTATCAGGAAGCCAGCACCATATTGAAGGA
CAGAGCTCAACGGTTGGAAGAGTGTTACGAGATCATTGAGAAGAATTTGCTGCTACTTGGAGCCACAGCCATAGAAGATCGCCTTCAAGC
AGGAGTTCCAGAAACCATCGCAACACTGTTGAAGGCAGAAATTAAAATATGGGTGTTGACAGGAGACAAACAAGAAACTGCGATTAATAT
AGGGTATTCCTGCCGATTGGTATCGCAGAATATGGCCCTTATCCTATTGAAGGAGGACTCTTTGGATGCCACAAGGGCAGCCATTACTCA
GCACTGCACTGACCTTGGGAATTTGCTGGGCAAGGAAAATGACGTGGCCCTGATCATCGATGGCCACACCCTGAAGTACGCGCTCTCCTT
CGAAGTCCGGAGGAGTTTCCTGGATTTGGCACTCTCGTGCAAAGCGGTCATATGCTGCAGAGTGTCTCCTCTGCAGAAGTCTGAGATAGT
GGATGTGGTGAAGAAGCGGGTGAAGGCCATCACCCTCGCCATCGGAGACGGCGCCAACGATGTCGGGATGATCCAGACAGCCCACGTGGG
TGTGGGAATCAGTGGGAATGAAGGCATGCAGGCCACCAACAACTCGGATTACGCCATCGCACAGTTTTCCTACTTAGAGAAGCTTCTGTT
GGTTCATGGAGCCTGGAGCTACAACCGGGTGACCAAGTGCATCTTGTACTGCTTCTATAAGAACGTGGTCCTGTATATTATTGAGATTTT
CACCGCTTTGCCGCCCTTCACTCTGGGAATCTTTGAGAGGTCTTGCACTCAGGAGAGCATGCTCAGGTTTCCCCAGCTCTACAAAATCAC
CCAGAATGGCGAAGGCTTCAACACAAAGGTTTTCTGGGGTCACTGCATCAACGCCTTGGTCCACTCCCTCATCCTCTTCTGGTTTCCCAT
GAAAGCTCTGGAGCATGATACTGTGTTGACAAGTGGTCATGCTACCGACTATTTATTTGTTGGAAATATTGTTTACACATATGTTGTTGT
TACTGTTTGTCTGAAAGCTGGTTTGGAGACCACAGCTTGGACTAAATTCAGTCATCTGGCTGTCTGGGGAAGCATGCTGACCTGGCTGGT
GTTTTTTGGCATCTACTCGACCATCTGGCCCACCATTCCCATTGCTCCAGATATGAGAGGACAGGGTATATTCAGTTCTCGAGGAGAAAA
GATCCTTATGGCAGATGCTGATGGAGCCACAAAGTTTCCAGATGTTGAGAAATTAGAAAAGGGGCTAAATGATCTACAGCCTTGGCCTAA
TCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGCGTTCTTACTTCCGTACTCTTCTCATGTATGG
GTTCCACTTTCTGGTGTGGTTCCTTTGTGTCAAAGGAATCAGGGACACACAGTGTGGGTTCAAATTATTTACTCGAGAAGCAGCTTCACG
GACGTTTTCATCTCTACACGTTGAACGATGGGCATTTGATGTAGAACTACTGTACATAGCACAGTTCTTTAAAATTCCAATAGCAGAAAT
TGCTGTCAACTGGACAGAAATTGAAGGTTCTAAATTAGTTCCATTCTGGAGCTGGCTACAAATGGGTAAAGACCTACTTTTTATACGACT
TCGATATTTGACTGGTGCCTGGAGGCTTGAGCAAACTCGGAAAATGAATTAGGTTGTTTGCAGTCTTCAGTTGTGTTCTTATGCTTCAGT
GTCACATTTCATTTCATTTGAAACTAAAATTTTAAGTAAAGCTGAAATAAACTTCTTGTCATTGTCTGCCTTTTGATAATTTTAAAGAAA

>8238_8238_3_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000255283_ALG5_chr13_37559877_ENST00000443765_length(amino acids)=1180AA_BP=1004
MGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHLNKFRDNQISTAKYSVLTFLPRFLYEQIRRAANAFFLFIALLQQIPDVSPTGRYTTL
VPLIIILTIAGIKEIVEDFKRHKADNAVNKKKTIVLRNGMWHTIMWKEVAVGDIVKVVNGQYLPADVVLLSSSEPQAMCYVETANLDGET
NLKIRQGLSHTADMQTREVLMKLSGTIECEGPNRHLYDFTGNLNLDGKSLVALGPDQILLRGTQLRNTQWVFGIVVYTGHDTKLMQNSTK
APLKRSNVEKVTNVQILVLFGILLVMALVSSAGALYWNRSHGEKNWYIKKMDTTSDNFGYNLLTFIILYNNLIPISLLVTLEVVKYTQAL
FINWDTDMYYIGNDTPAMARTSNLNEELGQVKYLFSDKTGTLTCNIMNFKKCSIAGVTYGHFPELAREPSSDDFCRMPPPCSDSCDFDDP
RLLKNIEDRHPTAPCIQEFLTLLAVCHTVVPEKDGDNIIYQASSPDEAALVKGAKKLGFVFTARTPFSVIIEAMGQEQTFGILNVLEFSS
DRKRMSVIVRTPSGRLRLYCKGADNVIFERLSKDSKYMEETLCHLEYFATEGLRTLCVAYADLSENEYEEWLKVYQEASTILKDRAQRLE
ECYEIIEKNLLLLGATAIEDRLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCRLVSQNMALILLKEDSLDATRAAITQHCTDLG
NLLGKENDVALIIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKKRVKAITLAIGDGANDVGMIQTAHVGVGISGN
EGMQATNNSDYAIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIEIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGF
NTKVFWGHCINALVHSLILFWFPMKALEHDTVLTSGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVWGSMLTWLVFFGIYS
TIWPTIPIAPDMRGQGIFSSRGEKILMADADGATKFPDVEKLEKGLNDLQPWPNQMAIACGSRAHLEKESIAQRSYFRTLLMYGFHFLVW
FLCVKGIRDTQCGFKLFTREAASRTFSSLHVERWAFDVELLYIAQFFKIPIAEIAVNWTEIEGSKLVPFWSWLQMGKDLLFIRLRYLTGA

--------------------------------------------------------------
>8238_8238_4_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000381655_ALG5_chr13_37559877_ENST00000239891_length(transcript)=3965nt_BP=3325nt
ACAGGCGCCGGCGGTCCCCGCCAGCTAGCAGCCCGGCGAGGCGCTGGCCCACCCATGGTCCTCGGGCGGCGGCCCCTGCGCCCAGCCCTG
CGCGTAGCCTCCGTCTCTCGCCCGGGGCCGCCGAGCCCCCGACACGGGCGAGATGCTGAACGGCGCAGGCCTGGACAAAGCTCTTAAGAT
GTCCCTGCCGCGGAGGTCGAGGATCCGCTCGTCCGTGGGACCTGTTCGTTCTTCTTTGGGCTATAAGAAGGCAGAGGATGAGATGTCCCG
GGCCACGTCTGTTGGAGACCAGCTGGAGGCACCCGCCCGCACCATTTACCTCAACCAACCGCATCTCAACAAATTCCGCGACAACCAGAT
CAGTACGGCCAAGTACAGCGTGTTGACATTTCTACCTCGATTCTTGTATGAGCAGATTAGAAGAGCTGCTAATGCCTTCTTTCTCTTCAT
TGCCTTATTACAGCAAATTCCAGATGTATCTCCAACAGGAAGATATACCACCCTGGTGCCATTGATCATTATTTTAACAATTGCAGGCAT
CAAAGAGATTGTAGAAGATTTTAAGCGACACAAGGCAGACAATGCAGTTAACAAAAAGAAAACAATAGTGTTAAGAAATGGTATGTGGCA
TACCATTATGTGGAAAGAGGTGGCAGTGGGAGACATTGTGAAGGTCGTCAATGGGCAGTATCTTCCAGCAGATGTGGTCCTGCTGTCATC
CAGTGAACCTCAGGCAATGTGTTATGTTGAAACAGCTAATCTGGATGGGGAGACGAACCTTAAAATACGTCAGGGTTTGAGTCACACTGC
TGACATGCAAACACGTGAAGTTCTGATGAAGTTATCTGGAACTATAGAGTGTGAAGGGCCCAACCGCCACCTCTATGACTTCACTGGAAA
CTTGAACTTAGATGGGAAAAGCCTTGTTGCCCTTGGGCCTGACCAGATCTTATTAAGAGGTACACAGCTTAGAAATACTCAGTGGGTCTT
TGGCATAGTTGTTTATACTGGACACGACACCAAACTCATGCAGAATTCAACCAAAGCGCCTCTCAAGAGATCAAATGTTGAGAAGGTGAC
TAACGTGCAGATCCTGGTGTTGTTTGGCATCCTCTTGGTCATGGCCTTGGTGAGCTCGGCGGGGGCCCTGTACTGGAACAGGTCTCATGG
TGAAAAGAACTGGTACATCAAGAAGATGGACACCACCTCAGATAATTTTGGATACAACCTACTGACGTTCATCATCTTATACAACAATCT
TATTCCCATCAGTCTGTTGGTGACTCTTGAGGTTGTGAAGTATACTCAAGCCCTTTTCATAAACTGGGACACAGATATGTATTATATAGG
AAATGACACTCCTGCCATGGCCAGGACATCAAACCTTAATGAAGAGCTTGGGCAGGTGAAATATCTCTTTTCTGACAAGACTGGAACGCT
TACATGCAATATCATGAACTTTAAGAAGTGCAGCATTGCCGGAGTAACCTATGGTCACTTCCCAGAATTGGCAAGAGAGCCGTCTTCAGA
TGACTTCTGTCGGATGCCTCCTCCCTGTAGTGATTCCTGTGACTTTGATGACCCCAGGCTGTTGAAGAACATTGAGGATCGCCATCCCAC
AGCCCCTTGCATTCAGGAGTTCCTCACCCTTCTGGCCGTGTGCCACACGGTTGTTCCTGAGAAGGATGGAGATAACATCATCTACCAGGC
CTCTTCCCCAGATGAAGCTGCTTTGGTGAAAGGAGCTAAAAAGCTGGGCTTTGTCTTCACAGCCAGAACACCATTCTCAGTCATCATAGA
AGCGATGGGACAGGAACAAACATTCGGAATCCTTAATGTCCTGGAATTTTCTAGTGACAGAAAAAGAATGTCTGTAATTGTTCGAACTCC
TTCAGGACGACTTCGGCTTTACTGTAAAGGGGCTGATAATGTGATTTTTGAGAGACTTTCAAAAGACTCAAAATATATGGAGGAAACATT
ATGCCATCTGGAATACTTTGCCACGGAAGGCTTGCGGACTCTCTGTGTGGCTTATGCTGATCTCTCTGAGAATGAGTATGAGGAGTGGCT
GAAAGTCTATCAGGAAGCCAGCACCATATTGAAGGACAGAGCTCAACGGTTGGAAGAGTGTTACGAGATCATTGAGAAGAATTTGCTGCT
ACTTGGAGCCACAGCCATAGAAGATCGCCTTCAAGCAGGAGTTCCAGAAACCATCGCAACACTGTTGAAGGCAGAAATTAAAATATGGGT
GTTGACAGGAGACAAACAAGAAACTGCGATTAATATAGGGTATTCCTGCCGATTGGTATCGCAGAATATGGCCCTTATCCTATTGAAGGA
GGACTCTTTGGATGCCACAAGGGCAGCCATTACTCAGCACTGCACTGACCTTGGGAATTTGCTGGGCAAGGAAAATGACGTGGCCCTGAT
CATCGATGGCCACACCCTGAAGTACGCGCTCTCCTTCGAAGTCCGGAGGAGTTTCCTGGATTTGGCACTCTCGTGCAAAGCGGTCATATG
CTGCAGAGTGTCTCCTCTGCAGAAGTCTGAGATAGTGGATGTGGTGAAGAAGCGGGTGAAGGCCATCACCCTCGCCATCGGAGACGGCGC
CAACGATGTCGGGATGATCCAGACAGCCCACGTGGGTGTGGGAATCAGTGGGAATGAAGGCATGCAGGCCACCAACAACTCGGATTACGC
CATCGCACAGTTTTCCTACTTAGAGAAGCTTCTGTTGGTTCATGGAGCCTGGAGCTACAACCGGGTGACCAAGTGCATCTTGTACTGCTT
CTATAAGAACGTGGTCCTGTATATTATTGAGCTTTGGTTCGCCTTTGTTAATGGATTTTCTGGGCAGATTTTATTTGAACGTTGGTGCAT
CGGCCTGTACAATGTGATTTTCACCGCTTTGCCGCCCTTCACTCTGGGAATCTTTGAGAGGTCTTGCACTCAGGAGAGCATGCTCAGGTT
TCCCCAGCTCTACAAAATCACCCAGAATGGCGAAGGCTTCAACACAAAGGTTTTCTGGGGTCACTGCATCAACGCCTTGGTCCACTCCCT
CATCCTCTTCTGGTTTCCCATGAAAGCTCTGGAGCATGATACTGTGTTGACAAGTGGTCATGCTACCGACTATTTATTTGTTGGAAATAT
TGTTTACACATATGTTGTTGTTACTGTTTGTCTGAAAGCTGGTTTGGAGACCACAGCTTGGACTAAATTCAGTCATCTGGCTGTCTGGGG
AAGCATGCTGACCTGGCTGGTGTTTTTTGGCATCTACTCGACCATCTGGCCCACCATTCCCATTGCTCCAGATATGAGAGGACAGGGTAT
ATTCAGTTCTCGAGGAGAAAAGATCCTTATGGCAGATGCTGATGGAGCCACAAAGTTTCCAGATGTTGAGAAATTAGAAAAGGGGCTAAA
TGATCTACAGCCTTGGCCTAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGCGTTCTTACTT
CCGTACTCTTCTCATGTATGGGTTCCACTTTCTGGTGTGGTTCCTTTGTGTCAAAGGAATCAGGGACACACAGTGTGGGTTCAAATTATT
TACTCGAGAAGCAGCTTCACGGACGTTTTCATCTCTACACGTTGAACGATGGGCATTTGATGTAGAACTACTGTACATAGCACAGTTCTT
TAAAATTCCAATAGCAGAAATTGCTGTCAACTGGACAGAAATTGAAGGTTCTAAATTAGTTCCATTCTGGAGCTGGCTACAAATGGGTAA
AGACCTACTTTTTATACGACTTCGATATTTGACTGGTGCCTGGAGGCTTGAGCAAACTCGGAAAATGAATTAGGTTGTTTGCAGTCTTCA
GTTGTGTTCTTATGCTTCAGTGTCACATTTCATTTCATTTGAAACTAAAATTTTAAGTAAAGCTGAAATAAACTTCTTGTCATTGTCTGC

>8238_8238_4_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000381655_ALG5_chr13_37559877_ENST00000239891_length(amino acids)=1236AA_BP=1060
MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHLNKFRDNQISTAKYSVLTFLPRFLYE
QIRRAANAFFLFIALLQQIPDVSPTGRYTTLVPLIIILTIAGIKEIVEDFKRHKADNAVNKKKTIVLRNGMWHTIMWKEVAVGDIVKVVN
GQYLPADVVLLSSSEPQAMCYVETANLDGETNLKIRQGLSHTADMQTREVLMKLSGTIECEGPNRHLYDFTGNLNLDGKSLVALGPDQIL
LRGTQLRNTQWVFGIVVYTGHDTKLMQNSTKAPLKRSNVEKVTNVQILVLFGILLVMALVSSAGALYWNRSHGEKNWYIKKMDTTSDNFG
YNLLTFIILYNNLIPISLLVTLEVVKYTQALFINWDTDMYYIGNDTPAMARTSNLNEELGQVKYLFSDKTGTLTCNIMNFKKCSIAGVTY
GHFPELAREPSSDDFCRMPPPCSDSCDFDDPRLLKNIEDRHPTAPCIQEFLTLLAVCHTVVPEKDGDNIIYQASSPDEAALVKGAKKLGF
VFTARTPFSVIIEAMGQEQTFGILNVLEFSSDRKRMSVIVRTPSGRLRLYCKGADNVIFERLSKDSKYMEETLCHLEYFATEGLRTLCVA
YADLSENEYEEWLKVYQEASTILKDRAQRLEECYEIIEKNLLLLGATAIEDRLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCR
LVSQNMALILLKEDSLDATRAAITQHCTDLGNLLGKENDVALIIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKK
RVKAITLAIGDGANDVGMIQTAHVGVGISGNEGMQATNNSDYAIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIELWFAFVN
GFSGQILFERWCIGLYNVIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGFNTKVFWGHCINALVHSLILFWFPMKALEHDTVLT
SGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVWGSMLTWLVFFGIYSTIWPTIPIAPDMRGQGIFSSRGEKILMADADGAT
KFPDVEKLEKGLNDLQPWPNQMAIACGSRAHLEKESIAQRSYFRTLLMYGFHFLVWFLCVKGIRDTQCGFKLFTREAASRTFSSLHVERW

--------------------------------------------------------------
>8238_8238_5_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000381655_ALG5_chr13_37559877_ENST00000413537_length(transcript)=3906nt_BP=3325nt
ACAGGCGCCGGCGGTCCCCGCCAGCTAGCAGCCCGGCGAGGCGCTGGCCCACCCATGGTCCTCGGGCGGCGGCCCCTGCGCCCAGCCCTG
CGCGTAGCCTCCGTCTCTCGCCCGGGGCCGCCGAGCCCCCGACACGGGCGAGATGCTGAACGGCGCAGGCCTGGACAAAGCTCTTAAGAT
GTCCCTGCCGCGGAGGTCGAGGATCCGCTCGTCCGTGGGACCTGTTCGTTCTTCTTTGGGCTATAAGAAGGCAGAGGATGAGATGTCCCG
GGCCACGTCTGTTGGAGACCAGCTGGAGGCACCCGCCCGCACCATTTACCTCAACCAACCGCATCTCAACAAATTCCGCGACAACCAGAT
CAGTACGGCCAAGTACAGCGTGTTGACATTTCTACCTCGATTCTTGTATGAGCAGATTAGAAGAGCTGCTAATGCCTTCTTTCTCTTCAT
TGCCTTATTACAGCAAATTCCAGATGTATCTCCAACAGGAAGATATACCACCCTGGTGCCATTGATCATTATTTTAACAATTGCAGGCAT
CAAAGAGATTGTAGAAGATTTTAAGCGACACAAGGCAGACAATGCAGTTAACAAAAAGAAAACAATAGTGTTAAGAAATGGTATGTGGCA
TACCATTATGTGGAAAGAGGTGGCAGTGGGAGACATTGTGAAGGTCGTCAATGGGCAGTATCTTCCAGCAGATGTGGTCCTGCTGTCATC
CAGTGAACCTCAGGCAATGTGTTATGTTGAAACAGCTAATCTGGATGGGGAGACGAACCTTAAAATACGTCAGGGTTTGAGTCACACTGC
TGACATGCAAACACGTGAAGTTCTGATGAAGTTATCTGGAACTATAGAGTGTGAAGGGCCCAACCGCCACCTCTATGACTTCACTGGAAA
CTTGAACTTAGATGGGAAAAGCCTTGTTGCCCTTGGGCCTGACCAGATCTTATTAAGAGGTACACAGCTTAGAAATACTCAGTGGGTCTT
TGGCATAGTTGTTTATACTGGACACGACACCAAACTCATGCAGAATTCAACCAAAGCGCCTCTCAAGAGATCAAATGTTGAGAAGGTGAC
TAACGTGCAGATCCTGGTGTTGTTTGGCATCCTCTTGGTCATGGCCTTGGTGAGCTCGGCGGGGGCCCTGTACTGGAACAGGTCTCATGG
TGAAAAGAACTGGTACATCAAGAAGATGGACACCACCTCAGATAATTTTGGATACAACCTACTGACGTTCATCATCTTATACAACAATCT
TATTCCCATCAGTCTGTTGGTGACTCTTGAGGTTGTGAAGTATACTCAAGCCCTTTTCATAAACTGGGACACAGATATGTATTATATAGG
AAATGACACTCCTGCCATGGCCAGGACATCAAACCTTAATGAAGAGCTTGGGCAGGTGAAATATCTCTTTTCTGACAAGACTGGAACGCT
TACATGCAATATCATGAACTTTAAGAAGTGCAGCATTGCCGGAGTAACCTATGGTCACTTCCCAGAATTGGCAAGAGAGCCGTCTTCAGA
TGACTTCTGTCGGATGCCTCCTCCCTGTAGTGATTCCTGTGACTTTGATGACCCCAGGCTGTTGAAGAACATTGAGGATCGCCATCCCAC
AGCCCCTTGCATTCAGGAGTTCCTCACCCTTCTGGCCGTGTGCCACACGGTTGTTCCTGAGAAGGATGGAGATAACATCATCTACCAGGC
CTCTTCCCCAGATGAAGCTGCTTTGGTGAAAGGAGCTAAAAAGCTGGGCTTTGTCTTCACAGCCAGAACACCATTCTCAGTCATCATAGA
AGCGATGGGACAGGAACAAACATTCGGAATCCTTAATGTCCTGGAATTTTCTAGTGACAGAAAAAGAATGTCTGTAATTGTTCGAACTCC
TTCAGGACGACTTCGGCTTTACTGTAAAGGGGCTGATAATGTGATTTTTGAGAGACTTTCAAAAGACTCAAAATATATGGAGGAAACATT
ATGCCATCTGGAATACTTTGCCACGGAAGGCTTGCGGACTCTCTGTGTGGCTTATGCTGATCTCTCTGAGAATGAGTATGAGGAGTGGCT
GAAAGTCTATCAGGAAGCCAGCACCATATTGAAGGACAGAGCTCAACGGTTGGAAGAGTGTTACGAGATCATTGAGAAGAATTTGCTGCT
ACTTGGAGCCACAGCCATAGAAGATCGCCTTCAAGCAGGAGTTCCAGAAACCATCGCAACACTGTTGAAGGCAGAAATTAAAATATGGGT
GTTGACAGGAGACAAACAAGAAACTGCGATTAATATAGGGTATTCCTGCCGATTGGTATCGCAGAATATGGCCCTTATCCTATTGAAGGA
GGACTCTTTGGATGCCACAAGGGCAGCCATTACTCAGCACTGCACTGACCTTGGGAATTTGCTGGGCAAGGAAAATGACGTGGCCCTGAT
CATCGATGGCCACACCCTGAAGTACGCGCTCTCCTTCGAAGTCCGGAGGAGTTTCCTGGATTTGGCACTCTCGTGCAAAGCGGTCATATG
CTGCAGAGTGTCTCCTCTGCAGAAGTCTGAGATAGTGGATGTGGTGAAGAAGCGGGTGAAGGCCATCACCCTCGCCATCGGAGACGGCGC
CAACGATGTCGGGATGATCCAGACAGCCCACGTGGGTGTGGGAATCAGTGGGAATGAAGGCATGCAGGCCACCAACAACTCGGATTACGC
CATCGCACAGTTTTCCTACTTAGAGAAGCTTCTGTTGGTTCATGGAGCCTGGAGCTACAACCGGGTGACCAAGTGCATCTTGTACTGCTT
CTATAAGAACGTGGTCCTGTATATTATTGAGCTTTGGTTCGCCTTTGTTAATGGATTTTCTGGGCAGATTTTATTTGAACGTTGGTGCAT
CGGCCTGTACAATGTGATTTTCACCGCTTTGCCGCCCTTCACTCTGGGAATCTTTGAGAGGTCTTGCACTCAGGAGAGCATGCTCAGGTT
TCCCCAGCTCTACAAAATCACCCAGAATGGCGAAGGCTTCAACACAAAGGTTTTCTGGGGTCACTGCATCAACGCCTTGGTCCACTCCCT
CATCCTCTTCTGGTTTCCCATGAAAGCTCTGGAGCATGATACTGTGTTGACAAGTGGTCATGCTACCGACTATTTATTTGTTGGAAATAT
TGTTTACACATATGTTGTTGTTACTGTTTGTCTGAAAGCTGGTTTGGAGACCACAGCTTGGACTAAATTCAGTCATCTGGCTGTCTGGGG
AAGCATGCTGACCTGGCTGGTGTTTTTTGGCATCTACTCGACCATCTGGCCCACCATTCCCATTGCTCCAGATATGAGAGGACAGGGTAT
ATTCAGTTCTCGAGGAGAAAAGATCCTTATGGCAGATGCTGATGGAGCCACAAAGTTTCCAGATGTTGAGAAATTAGAAAAGGGGCTAAA
TGATCTACAGCCTTGGCCTAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGCATAAGTGCTC
TTTTGGAGGTTTAATCAGTCAACCAGTATTTATTGGAAGTATTTTGTATGGAAGGCACTGAGCAAGCTGTTGTGAGATTCCTAAAGTATT
TTAAGATGAGGTTTCTGCCCTATCTACTTAGAGAGCGTTCTTACTTCCGTACTCTTCTCATGTATGGGTTCCACTTTCTGGTGTGGTTCC
TTTGTGTCAAAGGAATCAGGGACACACAGTGTGGGTTCAAATTATTTACTCGAGAAGCAGCTTCACGGACGTTTTCATCTCTACACGTTG
AACGATGGGCATTTGATGTAGAACTACTGTACATAGCACAGTTCTTTAAAATTCCAATAGCAGAAATTGCTGTCAACTGGACAGAAATTG

>8238_8238_5_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000381655_ALG5_chr13_37559877_ENST00000413537_length(amino acids)=1142AA_BP=1060
MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHLNKFRDNQISTAKYSVLTFLPRFLYE
QIRRAANAFFLFIALLQQIPDVSPTGRYTTLVPLIIILTIAGIKEIVEDFKRHKADNAVNKKKTIVLRNGMWHTIMWKEVAVGDIVKVVN
GQYLPADVVLLSSSEPQAMCYVETANLDGETNLKIRQGLSHTADMQTREVLMKLSGTIECEGPNRHLYDFTGNLNLDGKSLVALGPDQIL
LRGTQLRNTQWVFGIVVYTGHDTKLMQNSTKAPLKRSNVEKVTNVQILVLFGILLVMALVSSAGALYWNRSHGEKNWYIKKMDTTSDNFG
YNLLTFIILYNNLIPISLLVTLEVVKYTQALFINWDTDMYYIGNDTPAMARTSNLNEELGQVKYLFSDKTGTLTCNIMNFKKCSIAGVTY
GHFPELAREPSSDDFCRMPPPCSDSCDFDDPRLLKNIEDRHPTAPCIQEFLTLLAVCHTVVPEKDGDNIIYQASSPDEAALVKGAKKLGF
VFTARTPFSVIIEAMGQEQTFGILNVLEFSSDRKRMSVIVRTPSGRLRLYCKGADNVIFERLSKDSKYMEETLCHLEYFATEGLRTLCVA
YADLSENEYEEWLKVYQEASTILKDRAQRLEECYEIIEKNLLLLGATAIEDRLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCR
LVSQNMALILLKEDSLDATRAAITQHCTDLGNLLGKENDVALIIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKK
RVKAITLAIGDGANDVGMIQTAHVGVGISGNEGMQATNNSDYAIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIELWFAFVN
GFSGQILFERWCIGLYNVIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGFNTKVFWGHCINALVHSLILFWFPMKALEHDTVLT
SGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVWGSMLTWLVFFGIYSTIWPTIPIAPDMRGQGIFSSRGEKILMADADGAT

--------------------------------------------------------------
>8238_8238_6_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000381655_ALG5_chr13_37559877_ENST00000443765_length(transcript)=4020nt_BP=3325nt
ACAGGCGCCGGCGGTCCCCGCCAGCTAGCAGCCCGGCGAGGCGCTGGCCCACCCATGGTCCTCGGGCGGCGGCCCCTGCGCCCAGCCCTG
CGCGTAGCCTCCGTCTCTCGCCCGGGGCCGCCGAGCCCCCGACACGGGCGAGATGCTGAACGGCGCAGGCCTGGACAAAGCTCTTAAGAT
GTCCCTGCCGCGGAGGTCGAGGATCCGCTCGTCCGTGGGACCTGTTCGTTCTTCTTTGGGCTATAAGAAGGCAGAGGATGAGATGTCCCG
GGCCACGTCTGTTGGAGACCAGCTGGAGGCACCCGCCCGCACCATTTACCTCAACCAACCGCATCTCAACAAATTCCGCGACAACCAGAT
CAGTACGGCCAAGTACAGCGTGTTGACATTTCTACCTCGATTCTTGTATGAGCAGATTAGAAGAGCTGCTAATGCCTTCTTTCTCTTCAT
TGCCTTATTACAGCAAATTCCAGATGTATCTCCAACAGGAAGATATACCACCCTGGTGCCATTGATCATTATTTTAACAATTGCAGGCAT
CAAAGAGATTGTAGAAGATTTTAAGCGACACAAGGCAGACAATGCAGTTAACAAAAAGAAAACAATAGTGTTAAGAAATGGTATGTGGCA
TACCATTATGTGGAAAGAGGTGGCAGTGGGAGACATTGTGAAGGTCGTCAATGGGCAGTATCTTCCAGCAGATGTGGTCCTGCTGTCATC
CAGTGAACCTCAGGCAATGTGTTATGTTGAAACAGCTAATCTGGATGGGGAGACGAACCTTAAAATACGTCAGGGTTTGAGTCACACTGC
TGACATGCAAACACGTGAAGTTCTGATGAAGTTATCTGGAACTATAGAGTGTGAAGGGCCCAACCGCCACCTCTATGACTTCACTGGAAA
CTTGAACTTAGATGGGAAAAGCCTTGTTGCCCTTGGGCCTGACCAGATCTTATTAAGAGGTACACAGCTTAGAAATACTCAGTGGGTCTT
TGGCATAGTTGTTTATACTGGACACGACACCAAACTCATGCAGAATTCAACCAAAGCGCCTCTCAAGAGATCAAATGTTGAGAAGGTGAC
TAACGTGCAGATCCTGGTGTTGTTTGGCATCCTCTTGGTCATGGCCTTGGTGAGCTCGGCGGGGGCCCTGTACTGGAACAGGTCTCATGG
TGAAAAGAACTGGTACATCAAGAAGATGGACACCACCTCAGATAATTTTGGATACAACCTACTGACGTTCATCATCTTATACAACAATCT
TATTCCCATCAGTCTGTTGGTGACTCTTGAGGTTGTGAAGTATACTCAAGCCCTTTTCATAAACTGGGACACAGATATGTATTATATAGG
AAATGACACTCCTGCCATGGCCAGGACATCAAACCTTAATGAAGAGCTTGGGCAGGTGAAATATCTCTTTTCTGACAAGACTGGAACGCT
TACATGCAATATCATGAACTTTAAGAAGTGCAGCATTGCCGGAGTAACCTATGGTCACTTCCCAGAATTGGCAAGAGAGCCGTCTTCAGA
TGACTTCTGTCGGATGCCTCCTCCCTGTAGTGATTCCTGTGACTTTGATGACCCCAGGCTGTTGAAGAACATTGAGGATCGCCATCCCAC
AGCCCCTTGCATTCAGGAGTTCCTCACCCTTCTGGCCGTGTGCCACACGGTTGTTCCTGAGAAGGATGGAGATAACATCATCTACCAGGC
CTCTTCCCCAGATGAAGCTGCTTTGGTGAAAGGAGCTAAAAAGCTGGGCTTTGTCTTCACAGCCAGAACACCATTCTCAGTCATCATAGA
AGCGATGGGACAGGAACAAACATTCGGAATCCTTAATGTCCTGGAATTTTCTAGTGACAGAAAAAGAATGTCTGTAATTGTTCGAACTCC
TTCAGGACGACTTCGGCTTTACTGTAAAGGGGCTGATAATGTGATTTTTGAGAGACTTTCAAAAGACTCAAAATATATGGAGGAAACATT
ATGCCATCTGGAATACTTTGCCACGGAAGGCTTGCGGACTCTCTGTGTGGCTTATGCTGATCTCTCTGAGAATGAGTATGAGGAGTGGCT
GAAAGTCTATCAGGAAGCCAGCACCATATTGAAGGACAGAGCTCAACGGTTGGAAGAGTGTTACGAGATCATTGAGAAGAATTTGCTGCT
ACTTGGAGCCACAGCCATAGAAGATCGCCTTCAAGCAGGAGTTCCAGAAACCATCGCAACACTGTTGAAGGCAGAAATTAAAATATGGGT
GTTGACAGGAGACAAACAAGAAACTGCGATTAATATAGGGTATTCCTGCCGATTGGTATCGCAGAATATGGCCCTTATCCTATTGAAGGA
GGACTCTTTGGATGCCACAAGGGCAGCCATTACTCAGCACTGCACTGACCTTGGGAATTTGCTGGGCAAGGAAAATGACGTGGCCCTGAT
CATCGATGGCCACACCCTGAAGTACGCGCTCTCCTTCGAAGTCCGGAGGAGTTTCCTGGATTTGGCACTCTCGTGCAAAGCGGTCATATG
CTGCAGAGTGTCTCCTCTGCAGAAGTCTGAGATAGTGGATGTGGTGAAGAAGCGGGTGAAGGCCATCACCCTCGCCATCGGAGACGGCGC
CAACGATGTCGGGATGATCCAGACAGCCCACGTGGGTGTGGGAATCAGTGGGAATGAAGGCATGCAGGCCACCAACAACTCGGATTACGC
CATCGCACAGTTTTCCTACTTAGAGAAGCTTCTGTTGGTTCATGGAGCCTGGAGCTACAACCGGGTGACCAAGTGCATCTTGTACTGCTT
CTATAAGAACGTGGTCCTGTATATTATTGAGCTTTGGTTCGCCTTTGTTAATGGATTTTCTGGGCAGATTTTATTTGAACGTTGGTGCAT
CGGCCTGTACAATGTGATTTTCACCGCTTTGCCGCCCTTCACTCTGGGAATCTTTGAGAGGTCTTGCACTCAGGAGAGCATGCTCAGGTT
TCCCCAGCTCTACAAAATCACCCAGAATGGCGAAGGCTTCAACACAAAGGTTTTCTGGGGTCACTGCATCAACGCCTTGGTCCACTCCCT
CATCCTCTTCTGGTTTCCCATGAAAGCTCTGGAGCATGATACTGTGTTGACAAGTGGTCATGCTACCGACTATTTATTTGTTGGAAATAT
TGTTTACACATATGTTGTTGTTACTGTTTGTCTGAAAGCTGGTTTGGAGACCACAGCTTGGACTAAATTCAGTCATCTGGCTGTCTGGGG
AAGCATGCTGACCTGGCTGGTGTTTTTTGGCATCTACTCGACCATCTGGCCCACCATTCCCATTGCTCCAGATATGAGAGGACAGGGTAT
ATTCAGTTCTCGAGGAGAAAAGATCCTTATGGCAGATGCTGATGGAGCCACAAAGTTTCCAGATGTTGAGAAATTAGAAAAGGGGCTAAA
TGATCTACAGCCTTGGCCTAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGCGTTCTTACTT
CCGTACTCTTCTCATGTATGGGTTCCACTTTCTGGTGTGGTTCCTTTGTGTCAAAGGAATCAGGGACACACAGTGTGGGTTCAAATTATT
TACTCGAGAAGCAGCTTCACGGACGTTTTCATCTCTACACGTTGAACGATGGGCATTTGATGTAGAACTACTGTACATAGCACAGTTCTT
TAAAATTCCAATAGCAGAAATTGCTGTCAACTGGACAGAAATTGAAGGTTCTAAATTAGTTCCATTCTGGAGCTGGCTACAAATGGGTAA
AGACCTACTTTTTATACGACTTCGATATTTGACTGGTGCCTGGAGGCTTGAGCAAACTCGGAAAATGAATTAGGTTGTTTGCAGTCTTCA
GTTGTGTTCTTATGCTTCAGTGTCACATTTCATTTCATTTGAAACTAAAATTTTAAGTAAAGCTGAAATAAACTTCTTGTCATTGTCTGC

>8238_8238_6_ATP8A2-ALG5_ATP8A2_chr13_26436546_ENST00000381655_ALG5_chr13_37559877_ENST00000443765_length(amino acids)=1236AA_BP=1060
MLNGAGLDKALKMSLPRRSRIRSSVGPVRSSLGYKKAEDEMSRATSVGDQLEAPARTIYLNQPHLNKFRDNQISTAKYSVLTFLPRFLYE
QIRRAANAFFLFIALLQQIPDVSPTGRYTTLVPLIIILTIAGIKEIVEDFKRHKADNAVNKKKTIVLRNGMWHTIMWKEVAVGDIVKVVN
GQYLPADVVLLSSSEPQAMCYVETANLDGETNLKIRQGLSHTADMQTREVLMKLSGTIECEGPNRHLYDFTGNLNLDGKSLVALGPDQIL
LRGTQLRNTQWVFGIVVYTGHDTKLMQNSTKAPLKRSNVEKVTNVQILVLFGILLVMALVSSAGALYWNRSHGEKNWYIKKMDTTSDNFG
YNLLTFIILYNNLIPISLLVTLEVVKYTQALFINWDTDMYYIGNDTPAMARTSNLNEELGQVKYLFSDKTGTLTCNIMNFKKCSIAGVTY
GHFPELAREPSSDDFCRMPPPCSDSCDFDDPRLLKNIEDRHPTAPCIQEFLTLLAVCHTVVPEKDGDNIIYQASSPDEAALVKGAKKLGF
VFTARTPFSVIIEAMGQEQTFGILNVLEFSSDRKRMSVIVRTPSGRLRLYCKGADNVIFERLSKDSKYMEETLCHLEYFATEGLRTLCVA
YADLSENEYEEWLKVYQEASTILKDRAQRLEECYEIIEKNLLLLGATAIEDRLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCR
LVSQNMALILLKEDSLDATRAAITQHCTDLGNLLGKENDVALIIDGHTLKYALSFEVRRSFLDLALSCKAVICCRVSPLQKSEIVDVVKK
RVKAITLAIGDGANDVGMIQTAHVGVGISGNEGMQATNNSDYAIAQFSYLEKLLLVHGAWSYNRVTKCILYCFYKNVVLYIIELWFAFVN
GFSGQILFERWCIGLYNVIFTALPPFTLGIFERSCTQESMLRFPQLYKITQNGEGFNTKVFWGHCINALVHSLILFWFPMKALEHDTVLT
SGHATDYLFVGNIVYTYVVVTVCLKAGLETTAWTKFSHLAVWGSMLTWLVFFGIYSTIWPTIPIAPDMRGQGIFSSRGEKILMADADGAT
KFPDVEKLEKGLNDLQPWPNQMAIACGSRAHLEKESIAQRSYFRTLLMYGFHFLVWFLCVKGIRDTQCGFKLFTREAASRTFSSLHVERW

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Fusion Gene PPI Analysis for ATP8A2-ALG5


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 ATP8A2-ALG5


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 ATP8A2-ALG5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP8A2C3808977CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 42GENOMICS_ENGLAND;UNIPROT
HgeneATP8A2C0394006Dysequilibrium syndrome1ORPHANET
HgeneATP8A2C3714756Intellectual Disability1GENOMICS_ENGLAND