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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3430

FusionGeneSummary for ATP6V0A1_ATP5J2-PTCD1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V0A1_ATP5J2-PTCD1
Fusion gene ID: 3430
HgeneTgene
Gene symbol

ATP6V0A1

ATP5J2-PTCD1

Gene ID

535

Gene nameATPase H+ transporting V0 subunit a1
SynonymsATP6N1|ATP6N1A|Stv1|VPP1|Vph1|a1
Cytomap

17q21.2

Type of geneprotein-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,
Modification date20180523
UniProtAcc

Q93050

Ensembl transtripts involved in fusion geneENST00000393829, ENST00000546249, 
ENST00000537728, ENST00000264649, 
ENST00000585525, ENST00000343619, 
ENST00000544137, ENST00000587797, 
ENST00000413834, ENST00000437572, 
Fusion gene scores* DoF score14 X 13 X 7=12744 X 4 X 1=16
# samples 144
** MAII scorelog2(14/1274*10)=-3.18586654531133
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATP6V0A1 [Title/Abstract] AND ATP5J2-PTCD1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BM991690ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-intronENST00000393829ENST00000413834ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
intron-intronENST00000393829ENST00000437572ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
intron-intronENST00000546249ENST00000413834ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
intron-intronENST00000546249ENST00000437572ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
intron-intronENST00000537728ENST00000413834ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
intron-intronENST00000537728ENST00000437572ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
3UTR-intronENST00000264649ENST00000413834ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
3UTR-intronENST00000264649ENST00000437572ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
intron-intronENST00000585525ENST00000413834ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
intron-intronENST00000585525ENST00000437572ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
3UTR-intronENST00000343619ENST00000413834ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
3UTR-intronENST00000343619ENST00000437572ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
3UTR-intronENST00000544137ENST00000413834ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
3UTR-intronENST00000544137ENST00000437572ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
3UTR-intronENST00000587797ENST00000413834ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+
3UTR-intronENST00000587797ENST00000437572ATP6V0A1chr17

40673946

-ATP5J2-PTCD1chr7

99057153

+

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FusionProtFeatures for ATP6V0A1_ATP5J2-PTCD1


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

Q93050

ATP5J2-PTCD1

Required for assembly and activity of the vacuolarATPase. Potential role in differential targeting and regulation ofthe enzyme for a specific organelle (By similarity).{ECO:0000250}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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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FusionGeneSequence for ATP6V0A1_ATP5J2-PTCD1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ATP6V0A1_ATP5J2-PTCD1


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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RelatedDrugs for ATP6V0A1_ATP5J2-PTCD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ATP6V0A1_ATP5J2-PTCD1


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