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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: 15769

FusionGeneSummary for H2AFV_ATP6V0A2

check button Fusion gene summary
Fusion gene informationFusion gene name: H2AFV_ATP6V0A2
Fusion gene ID: 15769
HgeneTgene
Gene symbol

H2AFV

ATP6V0A2

Gene ID

94239

23545

Gene nameH2A histone family member VATPase H+ transporting V0 subunit a2
SynonymsH2A.Z-2|H2AVA2|ARCL|ARCL2A|ATP6A2|ATP6N1D|J6B7|RTF|STV1|TJ6|TJ6M|TJ6S|VPH1|WSS
Cytomap

7p13

12q24.31

Type of geneprotein-codingprotein-coding
Descriptionhistone H2A.VH2A.F/Zhistone H2A.F/Zpurine-rich binding element protein BV-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

Q71UI9

Q9Y487

Ensembl transtripts involved in fusion geneENST00000222690, ENST00000437072, 
ENST00000349299, ENST00000308153, 
ENST00000350771, ENST00000381124, 
ENST00000521529, ENST00000446531, 
ENST00000330342, ENST00000544833, 
ENST00000543687, 
Fusion gene scores* DoF score5 X 4 X 2=402 X 2 X 1=4
# samples 52
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: H2AFV [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

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
ChiTaRS3.1BF929914H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
* 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-3UTRENST00000222690ENST00000330342H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000222690ENST00000544833H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000222690ENST00000543687H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-3UTRENST00000437072ENST00000330342H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000437072ENST00000544833H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000437072ENST00000543687H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-3UTRENST00000349299ENST00000330342H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000349299ENST00000544833H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000349299ENST00000543687H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-3UTRENST00000308153ENST00000330342H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000308153ENST00000544833H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000308153ENST00000543687H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-3UTRENST00000350771ENST00000330342H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000350771ENST00000544833H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000350771ENST00000543687H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-3UTRENST00000381124ENST00000330342H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000381124ENST00000544833H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000381124ENST00000543687H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-3UTRENST00000521529ENST00000330342H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000521529ENST00000544833H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000521529ENST00000543687H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-3UTRENST00000446531ENST00000330342H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000446531ENST00000544833H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-
intron-intronENST00000446531ENST00000543687H2AFVchr7

44867614

+ATP6V0A2chr12

124244338

-

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FusionProtFeatures for H2AFV_ATP6V0A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
H2AFV

Q71UI9

ATP6V0A2

Q9Y487

Variant histone H2A which replaces conventional H2A in asubset of nucleosomes. Nucleosomes wrap and compact DNA intochromatin, limiting DNA accessibility to the cellular machinerieswhich require DNA as a template. Histones thereby play a centralrole in transcription regulation, DNA repair, DNA replication andchromosomal stability. DNA accessibility is regulated via acomplex set of post-translational modifications of histones, alsocalled histone code, and nucleosome remodeling. May be involved inthe formation of constitutive heterochromatin. May be required forchromosome segregation during cell division (By similarity).{ECO:0000250}. 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 H2AFV_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 H2AFV_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 H2AFV_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 H2AFV_ATP6V0A2


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