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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:ATP6V0A1-ATF6 (FusionGDB2 ID:8159)

Fusion Gene Summary for ATP6V0A1-ATF6

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V0A1-ATF6
Fusion gene ID: 8159
HgeneTgene
Gene symbol

ATP6V0A1

ATF6

Gene ID

535

22926

Gene nameATPase H+ transporting V0 subunit a1activating transcription factor 6
SynonymsATP6N1|ATP6N1A|Stv1|VPP1|Vph1|a1ACHM7|ATF6A
Cytomap

17q21.2

1q23.3

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase 116 kDa subunit a isoform 1V-type proton ATPase 116 kDa subunit aATPase, H+ transporting, lysosomal V0 subunit a1ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD)H(+)-transporting two-sector ATPase, cyclic AMP-dependent transcription factor ATF-6 alphacAMP-dependent transcription factor ATF-6 alpha
Modification date2020032420200313
UniProtAcc

Q93050

Q99941

Ensembl transtripts involved in fusion geneENST00000393829, ENST00000546249, 
ENST00000537728, ENST00000264649, 
ENST00000585525, ENST00000343619, 
ENST00000544137, ENST00000587797, 
ENST00000367942, ENST00000476437, 
Fusion gene scores* DoF score20 X 17 X 9=30609 X 9 X 8=648
# samples 2212
** MAII scorelog2(22/3060*10)=-3.79795622405535
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/648*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6V0A1 [Title/Abstract] AND ATF6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6V0A1(40613029)-ATF6(161832988), # samples:2
Anticipated loss of major functional domain due to fusion event.ATP6V0A1-ATF6 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ATP6V0A1-ATF6 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ATP6V0A1-ATF6 seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
TgeneATF6

GO:0043065

positive regulation of apoptotic process

14752510

TgeneATF6

GO:0045944

positive regulation of transcription by RNA polymerase II

14973138

TgeneATF6

GO:1903893

positive regulation of ATF6-mediated unfolded protein response

9837962

TgeneATF6

GO:1990440

positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress

11163209|11256944|16469704


check buttonFusion gene breakpoints across ATP6V0A1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ATF6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BRCATCGA-B6-A0I1-01AATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
ChimerDB4BRCATCGA-B6-A0I1-01AATP6V0A1chr17

40613029

-ATF6chr1

161832988

+


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Fusion Gene ORF analysis for ATP6V0A1-ATF6

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
Frame-shiftENST00000393829ENST00000367942ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
5CDS-intronENST00000393829ENST00000476437ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
Frame-shiftENST00000546249ENST00000367942ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
5CDS-intronENST00000546249ENST00000476437ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
Frame-shiftENST00000537728ENST00000367942ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
5CDS-intronENST00000537728ENST00000476437ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
Frame-shiftENST00000264649ENST00000367942ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
5CDS-intronENST00000264649ENST00000476437ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
Frame-shiftENST00000585525ENST00000367942ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
5CDS-intronENST00000585525ENST00000476437ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
Frame-shiftENST00000343619ENST00000367942ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
5CDS-intronENST00000343619ENST00000476437ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
intron-3CDSENST00000544137ENST00000367942ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
intron-intronENST00000544137ENST00000476437ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
intron-3CDSENST00000587797ENST00000367942ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+
intron-intronENST00000587797ENST00000476437ATP6V0A1chr17

40613029

+ATF6chr1

161832988

+

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)

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

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Fusion Genomic Features for ATP6V0A1-ATF6


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)
ATP6V0A1chr1740613029+ATF6chr1161832987+5.31E-070.9999995
ATP6V0A1chr1740613029+ATF6chr1161832987+5.31E-070.9999995

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.

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 ATP6V0A1-ATF6


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP6V0A1

Q93050

ATF6

Q99941

FUNCTION: Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle (By similarity). {ECO:0000250}.FUNCTION: [Cyclic AMP-dependent transcription factor ATF-6 beta]: Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 beta), which is embedded in the endoplasmic reticulum membrane (PubMed:11256944). Endoplasmic reticulum stress promotes processing of this form, releasing the transcription factor form that translocates into the nucleus, where it activates transcription of genes involved in the unfolded protein response (UPR) (PubMed:11256944). {ECO:0000269|PubMed:11256944}.; FUNCTION: [Processed cyclic AMP-dependent transcription factor ATF-6 beta]: Transcription factor that acts in the unfolded protein response (UPR) pathway by activating UPR target genes induced during ER stress (PubMed:11256944). Binds DNA on the 5'-CCAC[GA]-3' half of the ER stress response element (ERSE) (5'-CCAATN(9)CCAC[GA]-3') when NF-Y is bound to ERSE (PubMed:11256944). {ECO:0000269|PubMed:11256944}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ATP6V0A1-ATF6


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.

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Fusion Gene PPI Analysis for ATP6V0A1-ATF6


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 ATP6V0A1-ATF6


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 ATP6V0A1-ATF6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneATF6C0152200Achromatopsia2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneATF6C4225297ACHROMATOPSIA 72CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneATF6C0003949Asbestosis1CTD_human
TgeneATF6C0009398Color vision defect1CTD_human
TgeneATF6C0022336Creutzfeldt-Jakob disease1CTD_human
TgeneATF6C0035334Retinitis Pigmentosa1CTD_human
TgeneATF6C0036457Scrapie1CTD_human
TgeneATF6C0085636Photophobia1CTD_human
TgeneATF6C0155015Color Blindness, Red1CTD_human
TgeneATF6C0155016Color Blindness, Red-Green1CTD_human
TgeneATF6C0155017Color Blindness, Blue1CTD_human
TgeneATF6C0155018Color Blindness, Acquired1CTD_human
TgeneATF6C0239777Color Blindness, Green1CTD_human
TgeneATF6C0242225Color blindness1CTD_human
TgeneATF6C0376329New Variant Creutzfeldt-Jakob Disease1CTD_human
TgeneATF6C0700501Congenital nystagmus1CTD_human
TgeneATF6C0751042Color Blindness, Inherited1CTD_human
TgeneATF6C0751043Monochromatopsia1CTD_human
TgeneATF6C0751254Creutzfeldt-Jakob Disease, Familial1CTD_human
TgeneATF6C2930617Pulmonary Fibrosis - from Asbestos Exposure1CTD_human
TgeneATF6C3489532Cone-Rod Dystrophy 21ORPHANET