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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: 14266

FusionGeneSummary for GAK_ATP6V0A2

check button Fusion gene summary
Fusion gene informationFusion gene name: GAK_ATP6V0A2
Fusion gene ID: 14266
HgeneTgene
Gene symbol

GAK

ATP6V0A2

Gene ID

2580

23545

Gene namecyclin G associated kinaseATPase H+ transporting V0 subunit a2
SynonymsDNAJ26|DNAJC26A2|ARCL|ARCL2A|ATP6A2|ATP6N1D|J6B7|RTF|STV1|TJ6|TJ6M|TJ6S|VPH1|WSS
Cytomap

4p16.3

12q24.31

Type of geneprotein-codingprotein-coding
Descriptioncyclin-G-associated kinaseauxilin-2V-type proton ATPase 116 kDa subunit a isoform 2V-type proton ATPase 116 kDa subunit aA2V-ATPaseATPase, H+ transporting, lysosomal V0 subunit a2lysosomal H(+)-transporting ATPase V0 subunit a2regeneration and tolerance factorv-ATPase 116 kDav-type
Modification date2018052320180527
UniProtAcc

O14976

Q9Y487

Ensembl transtripts involved in fusion geneENST00000314167, ENST00000511163, 
ENST00000509566, 
ENST00000330342, 
ENST00000544833, ENST00000543687, 
Fusion gene scores* DoF score7 X 8 X 4=2242 X 2 X 1=4
# samples 72
** MAII scorelog2(7/224*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: GAK [Title/Abstract] AND ATP6V0A2 [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
HgeneGAK

GO:0010977

negative regulation of neuron projection development

24510904


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
ChiTaRS3.1BU679901GAKchr4

846525

-ATP6V0A2chr12

124245736

+
* 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-3UTRENST00000314167ENST00000330342GAKchr4

846525

-ATP6V0A2chr12

124245736

+
intron-intronENST00000314167ENST00000544833GAKchr4

846525

-ATP6V0A2chr12

124245736

+
intron-intronENST00000314167ENST00000543687GAKchr4

846525

-ATP6V0A2chr12

124245736

+
intron-3UTRENST00000511163ENST00000330342GAKchr4

846525

-ATP6V0A2chr12

124245736

+
intron-intronENST00000511163ENST00000544833GAKchr4

846525

-ATP6V0A2chr12

124245736

+
intron-intronENST00000511163ENST00000543687GAKchr4

846525

-ATP6V0A2chr12

124245736

+
intron-3UTRENST00000509566ENST00000330342GAKchr4

846525

-ATP6V0A2chr12

124245736

+
intron-intronENST00000509566ENST00000544833GAKchr4

846525

-ATP6V0A2chr12

124245736

+
intron-intronENST00000509566ENST00000543687GAKchr4

846525

-ATP6V0A2chr12

124245736

+

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FusionProtFeatures for GAK_ATP6V0A2


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

O14976

ATP6V0A2

Q9Y487

Associates with cyclin G and CDK5. Seems to act as anauxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expressionoscillates slightly during the cell cycle, peaking at G1.{ECO:0000269|PubMed:10625686}. Part of the proton channel of V-ATPases. Essentialcomponent of the endosomal pH-sensing machinery. May play a rolein maintaining the Golgi functions, such as glycosylationmaturation, by controlling the Golgi pH. In aerobic conditions,involved in intracellular iron homeostasis, thus triggering theactivity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leadingto HIF1A hydroxylation and subsequent proteasomal degradation(PubMed:28296633). {ECO:0000269|PubMed:16415858,ECO:0000269|PubMed:18157129, ECO:0000269|PubMed:28296633}.

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 GAK_ATP6V0A2


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 GAK_ATP6V0A2


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 GAK_ATP6V0A2


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 GAK_ATP6V0A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGAKC0030567Parkinson Disease1CTD_human
TgeneATP6V0A2C0406587Wrinkly skin syndrome1CTD_human;ORPHANET