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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: 3230

FusionGeneSummary for ATMIN_ATP6V1C2

check button Fusion gene summary
Fusion gene informationFusion gene name: ATMIN_ATP6V1C2
Fusion gene ID: 3230
HgeneTgene
Gene symbol

ATMIN

ATP6V1C2

Gene ID

23300

245973

Gene nameATM interactorATPase H+ transporting V1 subunit C2
SynonymsASCIZ|ZNF822ATP6C2|VMA5
Cytomap

16q23.2

-

Type of geneprotein-codingprotein-coding
DescriptionATM interactorATM INteracting proteinATM/ATR-Substrate Chk2-Interacting Zn++-finger proteinATM/ATR-substrate CHEK2-interacting zinc finger proteinATM/ATR-substrate CHK2-interacting zinc finger proteinzinc finger protein 822V-type proton ATPase subunit C 2ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2V-ATPase C2 subunitvacuolar proton pump subunit C 2
Modification date2018052220180523
UniProtAcc

O43313

Q8NEY4

Ensembl transtripts involved in fusion geneENST00000299575, ENST00000539819, 
ENST00000564241, ENST00000566488, 
ENST00000272238, ENST00000381661, 
Fusion gene scores* DoF score4 X 4 X 2=325 X 5 X 2=50
# samples 46
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATMIN [Title/Abstract] AND ATP6V1C2 [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
HgeneATMIN

GO:0045893

positive regulation of transcription, DNA-templated

22167198


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
ChiTaRS3.1AK026926ATMINchr16

81077216

+ATP6V1C2chr2

10952873

-
* 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
5CDS-intronENST00000299575ENST00000272238ATMINchr16

81077216

+ATP6V1C2chr2

10952873

-
5CDS-intronENST00000299575ENST00000381661ATMINchr16

81077216

+ATP6V1C2chr2

10952873

-
3UTR-intronENST00000539819ENST00000272238ATMINchr16

81077216

+ATP6V1C2chr2

10952873

-
3UTR-intronENST00000539819ENST00000381661ATMINchr16

81077216

+ATP6V1C2chr2

10952873

-
5CDS-intronENST00000564241ENST00000272238ATMINchr16

81077216

+ATP6V1C2chr2

10952873

-
5CDS-intronENST00000564241ENST00000381661ATMINchr16

81077216

+ATP6V1C2chr2

10952873

-
5CDS-intronENST00000566488ENST00000272238ATMINchr16

81077216

+ATP6V1C2chr2

10952873

-
5CDS-intronENST00000566488ENST00000381661ATMINchr16

81077216

+ATP6V1C2chr2

10952873

-

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FusionProtFeatures for ATMIN_ATP6V1C2


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

O43313

ATP6V1C2

Q8NEY4

Transcription factor. Plays a crucial role in cellsurvival and RAD51 foci formation in response to methylating DNAdamage. Involved in regulating the activity of ATM in the absenceof DNA damage. May play a role in stabilizing ATM. Binds to theDYNLL1 promoter and activates its transcription.{ECO:0000269|PubMed:15933716, ECO:0000269|PubMed:17525732,ECO:0000269|PubMed:22167198}. 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 ATMIN_ATP6V1C2


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 ATMIN_ATP6V1C2


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 ATMIN_ATP6V1C2


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 ATMIN_ATP6V1C2


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