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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:ATP6V1H-ST8SIA4 (FusionGDB2 ID:HG51606TG7903)

Fusion Gene Summary for ATP6V1H-ST8SIA4

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V1H-ST8SIA4
Fusion gene ID: hg51606tg7903
HgeneTgene
Gene symbol

ATP6V1H

ST8SIA4

Gene ID

51606

7903

Gene nameATPase H+ transporting V1 subunit HST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
SynonymsCGI-11|MSTP042|NBP1|SFD|SFDalpha|SFDbeta|VMA13PST|PST1|SIAT8D|ST8SIA-IV
Cytomap('ATP6V1H')('ST8SIA4')

8q11.23

5q21.1

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase subunit HATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit HV-ATPase 50/57 kDa subunitsV-ATPase subunit Hnef-binding protein 1protein VMA13 homologvacuolar ATP synthase subunit Hvacuolar ATPase subunit Hvacuolar proton pCMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferaseCMP-N-acetylneuraminate-poly-alpha-2,8-sialyl transferaseSIAT8-DST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 4ST8SiaIValpha-2,8-sialyltransferase 8Dpolysialyltransferase-1sialyltr
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000359530, ENST00000396774, 
ENST00000520188, ENST00000355221, 
ENST00000523899, 
Fusion gene scores* DoF score11 X 11 X 8=9685 X 5 X 5=125
# samples 156
** MAII scorelog2(15/968*10)=-2.69004454677871
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/125*10)=-1.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6V1H [Title/Abstract] AND ST8SIA4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6V1H(54723724)-ST8SIA4(100231489), # samples:1
Anticipated loss of major functional domain due to fusion event.ATP6V1H-ST8SIA4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ATP6V1H-ST8SIA4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ATP6V1H-ST8SIA4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ATP6V1H-ST8SIA4 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgeneATP6V1H

GO:0006897

endocytosis

12032142

TgeneST8SIA4

GO:0001574

ganglioside biosynthetic process

10766765

TgeneST8SIA4

GO:0006486

protein glycosylation

10766765

TgeneST8SIA4

GO:0006491

N-glycan processing

10766765

TgeneST8SIA4

GO:0009311

oligosaccharide metabolic process

10766765


check buttonFusion gene breakpoints across ATP6V1H (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 ST8SIA4 (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
ChimerDB4BRCATCGA-AC-A3OD-01BATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-


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Fusion Gene ORF analysis for ATP6V1H-ST8SIA4

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-intronENST00000359530ENST00000507360ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
5CDS-intronENST00000396774ENST00000507360ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
5CDS-intronENST00000520188ENST00000507360ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
Frame-shiftENST00000359530ENST00000231461ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
Frame-shiftENST00000359530ENST00000451528ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
Frame-shiftENST00000396774ENST00000231461ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
Frame-shiftENST00000396774ENST00000451528ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
In-frameENST00000520188ENST00000231461ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
In-frameENST00000520188ENST00000451528ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
intron-3CDSENST00000355221ENST00000231461ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
intron-3CDSENST00000355221ENST00000451528ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
intron-3CDSENST00000523899ENST00000231461ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
intron-3CDSENST00000523899ENST00000451528ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
intron-intronENST00000355221ENST00000507360ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-
intron-intronENST00000523899ENST00000507360ATP6V1Hchr8

54723724

-ST8SIA4chr5

100231489

-

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)
ENST00000520188ATP6V1Hchr854723724-ENST00000231461ST8SIA4chr5100231489-66828037681769333
ENST00000520188ATP6V1Hchr854723724-ENST00000451528ST8SIA4chr5100231489-2225803344811155

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
ENST00000520188ENST00000231461ATP6V1Hchr854723724-ST8SIA4chr5100231489-0.0003416790.99965835
ENST00000520188ENST00000451528ATP6V1Hchr854723724-ST8SIA4chr5100231489-0.008235950.991764

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Fusion Genomic Features for ATP6V1H-ST8SIA4


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 ATP6V1H-ST8SIA4


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/chr8:54723724/chr5:100231489)
- 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
TgeneST8SIA4chr8:54723724chr5:100231489ENST0000023146105191_19337360.0RegionSubstrate binding
TgeneST8SIA4chr8:54723724chr5:100231489ENST0000023146105279_28137360.0RegionSubstrate binding
TgeneST8SIA4chr8:54723724chr5:100231489ENST0000023146105314_31537360.0RegionSubstrate binding
TgeneST8SIA4chr8:54723724chr5:100231489ENST0000045152803191_19337169.0RegionSubstrate binding
TgeneST8SIA4chr8:54723724chr5:100231489ENST0000045152803279_28137169.0RegionSubstrate binding
TgeneST8SIA4chr8:54723724chr5:100231489ENST0000045152803314_31537169.0RegionSubstrate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneST8SIA4chr8:54723724chr5:100231489ENST00000231461051_737360.0Topological domainCytoplasmic
TgeneST8SIA4chr8:54723724chr5:100231489ENST000002314610521_35937360.0Topological domainLumenal
TgeneST8SIA4chr8:54723724chr5:100231489ENST00000451528031_737169.0Topological domainCytoplasmic
TgeneST8SIA4chr8:54723724chr5:100231489ENST000004515280321_35937169.0Topological domainLumenal
TgeneST8SIA4chr8:54723724chr5:100231489ENST00000231461058_2037360.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneST8SIA4chr8:54723724chr5:100231489ENST00000451528038_2037169.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Gene Sequence for ATP6V1H-ST8SIA4


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.
>8218_8218_1_ATP6V1H-ST8SIA4_ATP6V1H_chr8_54723724_ENST00000520188_ST8SIA4_chr5_100231489_ENST00000231461_length(transcript)=6682nt_BP=803nt
AATGCAGAGAGCTGAGGCTAGAGAGGCAGCCAGGGGCCGATCGTGAAGATGCTGTGTGTGGGTGTGTGGTTGGAAGGAGTTTGGACTTGA
TCCTATCAGTCAGTGCTTTTCAAGCTGATTTTTAAGCTGTGAAGCCCATGATTGATATGAAGTTAGCATGTAAAACAGATGAAAATGATA
GAATGGAGGTGGGAGTGTGTGTCCCAGAGCCCTCTTTTTGAGACCATTCACCATTTTCCAAGGAGCTGTAGGTGTTGGAAACCAATGAAT
CTTGTAGCCGGGAGTTAGAAGACCATATCTGCCTCTTGATTGAATTGTTCTACTAGCAGCATGAAGGGGGACAGATGATTTCTGCTGAAG
ATTGTGAGTTTATTCAGAGGTTTGAAATGAAACGAAGCCCTGAAGAGAAGCAAGAGATGCTTCAAACTGAAGGCAGCCAGTGTGCTAAAA
CATTTATAAATCTGATGACTCATATCTGCAAAGAACAGACCGTTCAGTATATACTAACTATGGTGGATGATATGCTGCAGGAAAATCATC
AGCGTGTTAGCATTTTCTTTGACTATGCAAGATGTAGCAAGAACACTGCGTGGCCCTACTTTCTGCCAATGTTGAATCGCCAGGATCCCT
TCACTGTTCATATGGCAGCAAGAATTATTGCCAAGTTAGCAGCTTGGGGAAAAGAACTGATGGAAGGCAGTGACTTAAATTACTATTTCA
ATTGGATAAAAACTCAGCTGAGTTCACAGAAACTGCGTGGTAGCGGTGTTGCTGTTGAAACAGGAACAGTCTCTTCAAGTGATAGATGGT
GAATTGTCTTTGAGTCGGTCACTTGTCAATAGCTCTGATAAAATCATTCGAAAGGCTGGCTCTTCAATCTTCCAGCACAATGTAGAAGGT
TGGAAAATCAATTCCTCTTTGGTCCTAGAGATAAGGAAGAACATACTTCGTTTCTTAGATGCAGAACGAGATGTGTCAGTGGTCAAGAGC
AGTTTTAAGCCTGGTGATGTCATACACTATGTGCTTGACAGGCGCCGGACACTAAACATTTCTCATGATCTACATAGCCTCCTACCTGAA
GTTTCACCAATGAAGAATCGCAGGTTTAAGACCTGTGCAGTTGTTGGAAATTCTGGCATTCTGTTAGACAGTGAATGTGGAAAGGAGATT
GACAGTCACAATTTTGTAATAAGGTGTAATCTAGCTCCTGTGGTGGAGTTTGCTGCAGATGTGGGAACTAAATCAGATTTTATTACCATG
AATCCATCAGTTGTACAAAGAGCATTTGGAGGCTTTCGAAATGAGAGTGACAGAGAAAAATTTGTGCATAGACTTTCCATGCTGAATGAC
AGTGTCCTTTGGATTCCTGCTTTCATGGTCAAAGGAGGAGAGAAGCACGTGGAGTGGGTTAATGCATTAATCCTTAAGAATAAACTGAAA
GTGCGAACTGCCTATCCGTCATTGAGACTTATTCATGCTGTCAGAGGTTACTGGCTGACCAACAAAGTTCCTATCAAAAGACCCAGCACA
GGTCTTCTCATGTATACACTTGCCACAAGATTCTGTGATGAAATTCACCTGTATGGATTCTGGCCCTTCCCTAAGGATTTAAATGGAAAA
GCGGTCAAATATCATTATTATGATGACTTAAAATATAGGTACTTTTCCAATGCAAGCCCTCACAGAATGCCATTAGAATTCAAAACATTA
AATGTGCTACATAATAGAGGAGCTCTAAAACTGACAACAGGAAAGTGTGTAAAGCAATAAAGCACATTTTGAAACAAACAATATGCACTT
CTTTTCTGAAGATGCTTCCGAAGATTTGAAAATAGGATCCAAAACACGGCTGGGTTTCAGCATCCACCAATGAACTGAAAGGTGAATAAA
GGACGTTCATGAGAAATCGACTACCAGCTGATGAAATACCTGCAAAGTGCTCTAAAAATTAAATATTTTGACTTTAAGGGTCCTAGTAAG
TGCCACTTCCACTAAGAATACAGTTTGAATGTATAATCAGTAGTGTTTACAAGATCCAACAGTGCACTCATCATTAGTTAACAAAGCAAA
TATGTTCATCACTGTCAGGCTGCCCACAGCAACACCAAGCATATTAGAAGAGGAACCCCAGGAACGCAACTCAGACCTTGGGAAATTAAA
CCATCCTTGTCAGCAGAAGCCAAGATGGAAGCAGTTTGAGCAATGAAATCCGTAAGATTAAACAACTCAAGTAAATGCTTCAGTCAGGAC
TCTGAGTCTGATCATGAATTTTATGTTTTAATTTATGTTTTTTTTTTGTCTTCTGGAATCTCTTTTGGTTTGGATATTGGGATGCTTAGA
AATCCTTTCTGAGATGCATATGAGTGAGGAAATAAACTTTAAGTAATTATTTTTAAAGTTCTTATACTTTTTAAAAGCTATCACACAAAG
ACTTTTTTTTTTTTTTTTGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAAGTT
CACTCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTGCAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTGGAG
ACGGATTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG
CGTGAGCCACCGTGCCTGGCCGACATTTTTAAAAAAGTTTTATTTTGCACGGCTCTAAACCTCCATGTTATTTTCCAGTGGTGTAGAAGG
TACCAGCTAAAGTGAACCACTATGTAATATTAGGCCATTCTAAAGGAAAGATGTTCCATGTCATCAGAGATGGTAAAATAGGCCGGGAAA
AAAAAATCTTTGGTACCAAAGATTACACTTGTGTTTCTACACAGCAAACCATTTTTCTTTCATGAAAATAATATATTATTAACATGAATA
TATTATTTTGCTATTAATGTGAAAGTTGTCTCTAAATATTTTTTAATTTTCAAACTCATACTTTATTTTCATTTGAAATGTTTTTCACAC
CTTTTGCATTACATAATAATTTTGTGGAAGCATTTTGCCCTTTAGAATAAATATTAGATTGATATAGCTGAAATGTGACTTCCAGTTCTT
TGATATTCCCCTTGTTATTCAAATAGAAATATGGAAATGCTTTATATATTACTGTTAAATTTCTTAGTGCAGAAATAACATTATTAATAG
AGTATTGTTTTCAAAACAGAGATGATTAATTTCAAGAGGTTTAACAGTGAAATTGTGTCAATATTTTGCATTTAAAATGAATTTAATTGA
CCGATATTTTCTGTAGTTAAATTTAGTCACAATATCACATATGTTCTTCAAGAAACACATGAAATTATTAATAAAGTAATTAAAAAATTT
TTAATGTATAACAGAATTGACCAATAGGCCAGTTTTCTGGTAACTTATGATAGTAGATTGTTTCTTTAGAAACTGGGCAGAAGCTCTGCA
TTCTCACTTGTACTTTGATTTCTTATTTCTTGGGCAGGCAATTTGAGGAAAGAAGAAATGGCATGGGGAATATATATGTTTTGTTTCTTA
GGGAAAACAGTCTGAGAAATGAATAAAAAGCATGAAGTACGTGTGTGTGTGTGTGTGTTACCATGGAAAAGGATATTCACAGTAGTACAG
TTCTCAATATTTTTAATTAGATGTCATATTTTTTTAATATAGTAAAACCTTGGGATATAGAATATTACATCTTTTGAGAATGTATGTGTC
TCTAAGTAAGTAAAATCTAATGCGTATAGGAGACTGATAGCTAAAAATGAATGGAACATTAATGTACTTTTATAATTAAACCTCTTATCT
ATCAGAAATTGTAAGAGAATAGATACATGTTTTGAATGTAAAGTTGAAAAGTCTGGTTTACTTAATAAATTGAAAGTGATTTATAAAATC
TAAATTTGGACTACTTGCAAATGATAAGCTATTCTAGTAGCCTTTAGTTTAAATCCAACAGAAATCTAGAAGTCACAAGCAAATATCTTA
AAGGTAAAATCCATCTGGGCACTCATTTAAAGTATATCTTAAAAAAGCAGCAGCAAGGTACCTTGCCATTTTTAGCATATTTTCTTCCTT
TTTCTTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACACAGGCTGGAATGCAGTGATGCCATCTCAGCTCACTGCAA
CCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCGCCCACCACCACACTCGGCTAATTTT
GTGTTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCCTGACCTCAGGTTATCCACCCACCTCAGCCTCCCA
AAGTGCTGGGATTACAGGTGTGAGCCACCGCAGCCGGACCATTTTTAGTATATTTTCAGTAAATACATTTAAACAATGTTAAGGCCACAG
CACACATATCTCAGCCATTCATTGTTCTGTGCATTGATGTTTATCTCATAGATGCATTGAGTAGTGCCTTTTTAGCTTTTTCACATTACT
TTGTCACCATATCCTTTGTGTTCTCTAAATACATTGCCCACTTCCAAAAATGTTCAGCATGAAAAAAAGGGCTTCAGTGTCGATTGAGAT
TGCTTTTGTTCATCTCAGGGATTTCAATAGTCAAGAATGAATTCAGTTAAAGGTATTTAGGGTTCAAAGAAGACAAACTGTACAAGCCCA
TTTCATTCCTTGTTGTATACCTTTCCATCTGCCCTCCCATTTTAACTATCTACTGTGGCCTTTTTATGGAAACAGAGCAAGATCAATGAA
GGCTAATGGCAAGAATAAGAAAAAGAGTTGAGATTTAACCAATAGCGGAGCATAAAGGATCATGACAAAATCAAATTATAAAAGCATACT
TGAAATAGGTGGAGCTTTTTCTTTTGAAAATATATATTCACAATTTTAATATTTTAATTTATTTTTTACTATTTAACCCTGTACTTGGCA
ATGCTCAGGCAGCTGATTGTGAAATATTCTTGTCCTTTACAGAACATGGTTGTTATTGTGCTGTTGACATGAATAGACCATGGAAACATT
TTCATCATTATTATTCAGCCTGTGCTGTAGTTAATGTTAAGTTGCTGAAATAAAAAGTGAGCAAGTAATAGATTTTCTTGGCAAATCTAA
TGATTCAGCCCACAGGACTGTTGAAACTACTGCGGAAGTTTTTCTATCTGAAAGAAGGTGCTGGGCATTCAAATGTGTTCATGTATTGTA
TATCATATGAATTGTATATCAATTACTAATGGGAATTTCTACATATATGCTTACAAAAGCAATTTATTTAAGTAATGCTAGGGGTAGTGT
ACATACCAATTAGTTATTCAGCTACTATACAGAAAAAGGATGAACAAATTAATTTATTTCTAATTGAGCCAGTTAGACATAATGCATATA
ACGTGATATTTGGTTCATGAAAGAGTTGTTTTCATGTGGTTATTGTAGGGAGTATATATAATTGTGGAAGGGGTATGGGAAGAGTTGTGT
ATAGTTAGTTGTTATCTCTACAAGTTTGAAAGTTTTCCCATCAAACATTATCAATATACCAATGTTTTAAAAATTGAGTGAGGGTTATTA
TTTGTATTTGATGAAAGAAAATCCAAATAAAGCCCACCTAGAAATAGATATTTTATTATATATGTGCTATAGATATACCTATATAGTACA
AATAGACATGTGTGATGCATATATACAATGTTATATATGTGTATATGTCTGTATACACACTGAGTCTGTAATATGTATACACTAAATTTG
TGTTATGCTAACATCTTCAGGGTCTGCACTGTGAACTCCCCTGGAGATAAGTAAGTCCACTTTAGAATAAAGAAGTTCTTTTGAGACTTC
AGTTACTAACGTGCTTTAAGAGGTATCTACTTTATAACTGAATTCTATGTCGTTCATACGTAGAGTTACAGTAAGGGTCTAGTATGTCCA
AATCTTAATAATAAAGAAGAAAAGTAAAGGCTTCAAGCTAGCAATGTATTCGAATTACAGTTTTCAGATTGTGGCTCCAGGCCTTGTGTT
TCTCATTTAAGTAGCACCTTTTAATAAAAACCGTTTCTTTGTGTAGGCAAAAGCACAAGTGTTTCAAATGTAAATAGCAGGAAAAAAAAA
GAGTTTACAGAGATAGCATTGCTGCACAGAATAATTGCTACTGAGTATTTCTTATAGAATTTGTGGAACTGAAAGATGAGGTTTATTCTG
TCAAGTTCAAGTTCATTCTGTTCAACACTGTTTTCTTATTGTTTGTGTATAGCAACCGGGTATTATTGTTTTATCATTTGTAAAATTGTA
AAATAAATTAATCCCTTTTTTTCACTGTTTCTCTTATCTCATATATCCAAGCCCTTGGTTATACTTTGTATGTCAATGTTAGGTGATCAT
TTTTAACAAGCTTTGGCTTGTGCTTTGCTTTTCCACTCCCCTTAGCCCTAGTGGTTGGCAATTAGGCAAACCATTTATTTTTAAGTGTAT
ACATGGGAATATGAACAATGTCAAAAACCCCATGAATATTAGGAAATCCTTAACGATATTTTGTGTAGCACATTCTGTTTGCGGTTGAGG

>8218_8218_1_ATP6V1H-ST8SIA4_ATP6V1H_chr8_54723724_ENST00000520188_ST8SIA4_chr5_100231489_ENST00000231461_length(amino acids)=333AA_BP=12
MLLKQEQSLQVIDGELSLSRSLVNSSDKIIRKAGSSIFQHNVEGWKINSSLVLEIRKNILRFLDAERDVSVVKSSFKPGDVIHYVLDRRR
TLNISHDLHSLLPEVSPMKNRRFKTCAVVGNSGILLDSECGKEIDSHNFVIRCNLAPVVEFAADVGTKSDFITMNPSVVQRAFGGFRNES
DREKFVHRLSMLNDSVLWIPAFMVKGGEKHVEWVNALILKNKLKVRTAYPSLRLIHAVRGYWLTNKVPIKRPSTGLLMYTLATRFCDEIH

--------------------------------------------------------------
>8218_8218_2_ATP6V1H-ST8SIA4_ATP6V1H_chr8_54723724_ENST00000520188_ST8SIA4_chr5_100231489_ENST00000451528_length(transcript)=2225nt_BP=803nt
AATGCAGAGAGCTGAGGCTAGAGAGGCAGCCAGGGGCCGATCGTGAAGATGCTGTGTGTGGGTGTGTGGTTGGAAGGAGTTTGGACTTGA
TCCTATCAGTCAGTGCTTTTCAAGCTGATTTTTAAGCTGTGAAGCCCATGATTGATATGAAGTTAGCATGTAAAACAGATGAAAATGATA
GAATGGAGGTGGGAGTGTGTGTCCCAGAGCCCTCTTTTTGAGACCATTCACCATTTTCCAAGGAGCTGTAGGTGTTGGAAACCAATGAAT
CTTGTAGCCGGGAGTTAGAAGACCATATCTGCCTCTTGATTGAATTGTTCTACTAGCAGCATGAAGGGGGACAGATGATTTCTGCTGAAG
ATTGTGAGTTTATTCAGAGGTTTGAAATGAAACGAAGCCCTGAAGAGAAGCAAGAGATGCTTCAAACTGAAGGCAGCCAGTGTGCTAAAA
CATTTATAAATCTGATGACTCATATCTGCAAAGAACAGACCGTTCAGTATATACTAACTATGGTGGATGATATGCTGCAGGAAAATCATC
AGCGTGTTAGCATTTTCTTTGACTATGCAAGATGTAGCAAGAACACTGCGTGGCCCTACTTTCTGCCAATGTTGAATCGCCAGGATCCCT
TCACTGTTCATATGGCAGCAAGAATTATTGCCAAGTTAGCAGCTTGGGGAAAAGAACTGATGGAAGGCAGTGACTTAAATTACTATTTCA
ATTGGATAAAAACTCAGCTGAGTTCACAGAAACTGCGTGGTAGCGGTGTTGCTGTTGAAACAGGAACAGTCTCTTCAAGTGATAGATGGT
GAATTGTCTTTGAGTCGGTCACTTGTCAATAGCTCTGATAAAATCATTCGAAAGGCTGGCTCTTCAATCTTCCAGCACAATGTAGAAGGT
TGGAAAATCAATTCCTCTTTGGTCCTAGAGATAAGGAAGAACATACTTCGTTTCTTAGATGCAGAACGAGATGTGTCAGTGGTCAAGAGC
AGTTTTAAGCCTGGTGATGTCATACACTATGTGCTTGACAGGCGCCGGACACTAAACATTTCTCATGATCTACATAGCCTCCTACCTGAA
GTTTCACCAATGAAGAATCGCAGGTTTAAGACCTGTGCAGTTGTTGGAAATTCTGGCATTCTGTTAGACAGTGAATGTGGAAAGGAGATT
GACAGTCACAATTTTGTAATAAGGTGAGCTTTCTTCTGCTTTTTGAGATTGTAAGTTTTTCAAAGATATTTTACTTGGGGGTGGAAAACT
GTTAGAAAATTTTAAAGTATTACTAAAACCTCAAACAAATATTTGTCTATGATATCCTTTTCTGTGCAACATTTAAATTACATTTACCCT
GGAATAGAATATTATAATTATTGCGTAGTTGAAAGAAAAAGTGATCCTGTCATAGCAACAAGATTCACACAGCTTTTTTTGGTGAGGTGA
GGGGGGAGGCAAATGGCAATTTTATTAAATTTAATATTCCACACAAACTTTTTTCTTAGTATCTCTTCTTCATACTCATTAGTTTTGTGT
GATTTTATTTGTTGTATAAAGATTATGAATATTACTATGGAATGATGTAATAGATTTATGTTAATGTTACTTTTTATTAATAATTATCTA
GGAGATAGTAAGAACATAGTTTAGCAAGTTTATATTTGATATCCTGAGCCATATTTCTTTAATTTCTCTTTATATGTGGTATTTGTGTAT
GTTAGTATATTTGAATTTTATGTTTTTTTAACATAATTAAGCGTGCATGTTTGTTTTTCATTAACGGTTAAAAGATATTTGATGAATTGT
GTGTTTGATTAACCTATTAACTGAAAAAAACTCAACAGTAGAAATGGAATTATAATCACATCATAAATATAAGCAGTTTTTAATGATCAA
TTTTTATATCTGTACAGTTTTTTTGGATTGTTTTAGTTCCTTAGAAAAATTAGCTAAATGACAGAAACATGGATATTGAAATATGAAATA
GTACAATATAAAGATAGATAGAAAAGTATGCTGAGTTGACATGTTGAAAAACACAGTCTCTTGAAGATATACTGGAATACATTATTTTTG
AATATTTTGAATATTTTTTGAATATTTTTAAATAAAGTCTTAAAAGCATAAATAGGTAACTACTTTTAAAAAAAAAGTCATGAGAAATCA

>8218_8218_2_ATP6V1H-ST8SIA4_ATP6V1H_chr8_54723724_ENST00000520188_ST8SIA4_chr5_100231489_ENST00000451528_length(amino acids)=155AA_BP=
MISAEDCEFIQRFEMKRSPEEKQEMLQTEGSQCAKTFINLMTHICKEQTVQYILTMVDDMLQENHQRVSIFFDYARCSKNTAWPYFLPML

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Fusion Gene PPI Analysis for ATP6V1H-ST8SIA4


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 ATP6V1H-ST8SIA4


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 ATP6V1H-ST8SIA4


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