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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: 3463

FusionGeneSummary for ATP6V1C1_ATP6V1C1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V1C1_ATP6V1C1
Fusion gene ID: 3463
HgeneTgene
Gene symbol

ATP6V1C1

ATP6V1C1

Gene ID

528

528

Gene nameATPase H+ transporting V1 subunit C1ATPase H+ transporting V1 subunit C1
SynonymsATP6C|ATP6D|VATC|Vma5ATP6C|ATP6D|VATC|Vma5
Cytomap

8q22.3

8q22.3

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase subunit C 1ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1H(+)-transporting two-sector ATPase, subunit CH+ -ATPase C subunitH+-transporting ATPase chain C, vacuolarV-ATPase C subunitV-ATPase subunit C 1subunit C of vacuV-type proton ATPase subunit C 1ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1H(+)-transporting two-sector ATPase, subunit CH+ -ATPase C subunitH+-transporting ATPase chain C, vacuolarV-ATPase C subunitV-ATPase subunit C 1subunit C of vacu
Modification date2018052320180523
UniProtAcc

P21283

P21283

Ensembl transtripts involved in fusion geneENST00000518857, ENST00000395862, 
ENST00000521514, ENST00000518738, 
ENST00000518857, ENST00000395862, 
ENST00000521514, ENST00000518738, 
Fusion gene scores* DoF score4 X 5 X 3=603 X 4 X 3=36
# samples 65
** MAII scorelog2(6/60*10)=0log2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATP6V1C1 [Title/Abstract] AND ATP6V1C1 [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
ChiTaRS3.1BM979210ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
ChiTaRS3.1BM983326ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
ChiTaRS3.1BF350724ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
* 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-3UTRENST00000518857ENST00000518857ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
intron-3UTRENST00000518857ENST00000395862ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
intron-3UTRENST00000518857ENST00000521514ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
intron-3UTRENST00000518857ENST00000518738ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
3UTR-3UTRENST00000395862ENST00000518857ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
3UTR-3UTRENST00000395862ENST00000395862ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
3UTR-3UTRENST00000395862ENST00000521514ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
3UTR-3UTRENST00000395862ENST00000518738ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
intron-3UTRENST00000521514ENST00000518857ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
intron-3UTRENST00000521514ENST00000395862ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
intron-3UTRENST00000521514ENST00000521514ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
intron-3UTRENST00000521514ENST00000518738ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
3UTR-3UTRENST00000518738ENST00000518857ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
3UTR-3UTRENST00000518738ENST00000395862ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
3UTR-3UTRENST00000518738ENST00000521514ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
3UTR-3UTRENST00000518738ENST00000518738ATP6V1C1chr8

104081594

-ATP6V1C1chr8

104081265

+
Frame-shiftENST00000518857ENST00000518857ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000518857ENST00000395862ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000518857ENST00000521514ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000518857ENST00000518738ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000395862ENST00000518857ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000395862ENST00000395862ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000395862ENST00000521514ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000395862ENST00000518738ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000521514ENST00000518857ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000521514ENST00000395862ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000521514ENST00000521514ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000521514ENST00000518738ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000518738ENST00000518857ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000518738ENST00000395862ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000518738ENST00000521514ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-
Frame-shiftENST00000518738ENST00000518738ATP6V1C1chr8

104068158

+ATP6V1C1chr8

104064984

-

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FusionProtFeatures for ATP6V1C1_ATP6V1C1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP6V1C1

P21283

ATP6V1C1

P21283

Subunit of the peripheral V1 complex of vacuolar ATPase.Subunit C is necessary for the assembly of the catalytic sector ofthe enzyme and is likely to have a specific function in itscatalytic activity. V-ATPase is responsible for acidifying avariety of intracellular compartments in eukaryotic cells. Subunit of the peripheral V1 complex of vacuolar ATPase.Subunit C is necessary for the assembly of the catalytic sector ofthe enzyme and is likely to have a specific function in itscatalytic activity. V-ATPase is responsible for acidifying avariety of intracellular compartments in eukaryotic cells.

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 ATP6V1C1_ATP6V1C1


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 ATP6V1C1_ATP6V1C1


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 ATP6V1C1_ATP6V1C1


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 ATP6V1C1_ATP6V1C1


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