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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: 3466

FusionGeneSummary for ATP6V1C1_VPS13B

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V1C1_VPS13B
Fusion gene ID: 3466
HgeneTgene
Gene symbol

ATP6V1C1

VPS13B

Gene ID

528

157680

Gene nameATPase H+ transporting V1 subunit C1vacuolar protein sorting 13 homolog B
SynonymsATP6C|ATP6D|VATC|Vma5CHS1|COH1
Cytomap

8q22.3

8q22.2

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 vacuvacuolar protein sorting-associated protein 13B
Modification date2018052320180519
UniProtAcc

P21283

Q7Z7G8

Ensembl transtripts involved in fusion geneENST00000518857, ENST00000395862, 
ENST00000521514, ENST00000518738, 
ENST00000395996, ENST00000358544, 
ENST00000357162, ENST00000355155, 
ENST00000441350, ENST00000521932, 
Fusion gene scores* DoF score4 X 5 X 3=6010 X 10 X 7=700
# samples 610
** MAII scorelog2(6/60*10)=0log2(10/700*10)=-2.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6V1C1 [Title/Abstract] AND VPS13B [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
TCGALDHNSCTCGA-IQ-A61H-01AATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
* 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-3UTRENST00000518857ENST00000395996ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
intron-3UTRENST00000518857ENST00000358544ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
intron-3UTRENST00000518857ENST00000357162ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
intron-intronENST00000518857ENST00000355155ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
intron-intronENST00000518857ENST00000441350ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
intron-intronENST00000518857ENST00000521932ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-3UTRENST00000395862ENST00000395996ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-3UTRENST00000395862ENST00000358544ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-3UTRENST00000395862ENST00000357162ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-intronENST00000395862ENST00000355155ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-intronENST00000395862ENST00000441350ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-intronENST00000395862ENST00000521932ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5UTR-3UTRENST00000521514ENST00000395996ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5UTR-3UTRENST00000521514ENST00000358544ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5UTR-3UTRENST00000521514ENST00000357162ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5UTR-intronENST00000521514ENST00000355155ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5UTR-intronENST00000521514ENST00000441350ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5UTR-intronENST00000521514ENST00000521932ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-3UTRENST00000518738ENST00000395996ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-3UTRENST00000518738ENST00000358544ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-3UTRENST00000518738ENST00000357162ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-intronENST00000518738ENST00000355155ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-intronENST00000518738ENST00000441350ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+
5CDS-intronENST00000518738ENST00000521932ATP6V1C1chr8

104054635

+VPS13Bchr8

100568678

+

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FusionProtFeatures for ATP6V1C1_VPS13B


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

P21283

VPS13B

Q7Z7G8

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_VPS13B


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_VPS13B


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
ATP6V1C1ATP6V1B1, ATP6V1E1, VASP, MOV10, SRSF5, ABCD3, CISD1, TYMS, ATP6AP1, MGST3, CPT1A, SSR1, TXNDC17, MRPS35, UBAC2, ANP32E, ARFIP1, ATG7, TBC1D15, VTA1, CTTN, DNM1L, GSPT1, GSPT2, GTF2A1, IDE, IVNS1ABP, LUC7L2, NASP, PAWR, PSMG3, RDX, SARS, SHMT1, SHMT2, SNX1, SNX2, SNX6, STAT1, TSN, VPS29, VPS35, ATP6V1C1, CDCA3, ATP6AP2, ATP6V1C2, ATL3, ALDH3A2, HDDC3, LAMTOR5, NDUFA9, PHB2, RAB14, SEC31A, PPP2R1A, SMS, ATP6V0A2, TLDC2, DNAAF2, DGUOK, NUFIP1VPS13BCSNK1E, SPACA1, FAM177A1, DNAJC7, CSNK1D, SNX20, SNX21, LGALS7, DOCK5, LYPD4, FUZ


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_VPS13B


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_VPS13B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneVPS13BC0265223Cohen syndrome6CTD_human;ORPHANET;UNIPROT