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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: 15772

FusionGeneSummary for H2AFV_UBASH3A

check button Fusion gene summary
Fusion gene informationFusion gene name: H2AFV_UBASH3A
Fusion gene ID: 15772
HgeneTgene
Gene symbol

H2AFV

UBASH3A

Gene ID

94239

53347

Gene nameH2A histone family member Vubiquitin associated and SH3 domain containing A
SynonymsH2A.Z-2|H2AVCLIP4|STS-2|TULA|TULA-1
Cytomap

7p13

21q22.3

Type of geneprotein-codingprotein-coding
Descriptionhistone H2A.VH2A.F/Zhistone H2A.F/Zpurine-rich binding element protein Bubiquitin-associated and SH3 domain-containing protein AT-cell ubiquitin ligand 1T-cell ubiquitin ligand proteincbl-interacting protein 4suppressor of T-cell receptor signaling 2
Modification date2018052320180523
UniProtAcc

Q71UI9

P57075

Ensembl transtripts involved in fusion geneENST00000222690, ENST00000437072, 
ENST00000349299, ENST00000308153, 
ENST00000350771, ENST00000381124, 
ENST00000521529, ENST00000446531, 
ENST00000291535, ENST00000450356, 
ENST00000319294, ENST00000398367, 
Fusion gene scores* DoF score5 X 4 X 2=404 X 4 X 3=48
# samples 54
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: H2AFV [Title/Abstract] AND UBASH3A [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
TCGALDPRADTCGA-HC-8260-01AH2AFVchr7

44887568

-UBASH3Achr21

43824025

+
* 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-5UTRENST00000222690ENST00000291535H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000222690ENST00000450356H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000222690ENST00000319294H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000222690ENST00000398367H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000437072ENST00000291535H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000437072ENST00000450356H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000437072ENST00000319294H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000437072ENST00000398367H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000349299ENST00000291535H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000349299ENST00000450356H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000349299ENST00000319294H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000349299ENST00000398367H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000308153ENST00000291535H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000308153ENST00000450356H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000308153ENST00000319294H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000308153ENST00000398367H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000350771ENST00000291535H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000350771ENST00000450356H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000350771ENST00000319294H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000350771ENST00000398367H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000381124ENST00000291535H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000381124ENST00000450356H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000381124ENST00000319294H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000381124ENST00000398367H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000521529ENST00000291535H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000521529ENST00000450356H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000521529ENST00000319294H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000521529ENST00000398367H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000446531ENST00000291535H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000446531ENST00000450356H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000446531ENST00000319294H2AFVchr7

44887568

-UBASH3Achr21

43824025

+
5CDS-5UTRENST00000446531ENST00000398367H2AFVchr7

44887568

-UBASH3Achr21

43824025

+

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FusionProtFeatures for H2AFV_UBASH3A


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

Q71UI9

UBASH3A

P57075

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}. Interferes with CBL-mediated down-regulation anddegradation of receptor-type tyrosine kinases. Promotesaccumulation of activated target receptors, such as T-cellreceptors, EGFR and PDGFRB, on the cell surface. Exhibitsnegligigle protein tyrosine phosphatase activity at neutral pH.May act as a dominant-negative regulator of UBASH3B-dependentdephosphorylation. May inhibit dynamin-dependent endocyticpathways by functionally sequestering dynamin via its SH3 domain.{ECO:0000269|PubMed:15159412, ECO:0000269|PubMed:17382318,ECO:0000269|PubMed:18189269}.

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_UBASH3A


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_UBASH3A


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
H2AFVMORF4L1, MORF4L2, MRGBP, ELAVL1, CUL3, CUL4A, CUL4B, CAND1, APP, HIST1H2AD, FN1, C9orf78, FKBP9, AHCY, FH, HEXA, PCNA, UBA6, HERC4, HK2, NUBP2, TRNT1, XPNPEP1, TUBG1, VCP, CUL7, OBSL1, GRK1, EWSR1, NUP107, NPM1, TM9SF4, MCM2, MCM5, DTX3L, COQ2, COX15, DLD, DLST, VDAC1, TRIM25, G3BP1, CCND2UBASH3AUBE2L3, DNM1, ALK, AIFM1, CBL, EGFR, UBC, ABCE1, PARK2, UBASH3B, CRK, CBS, KCNE1, TRIM37, REL, TP53BP2, DAZAP2, SPRY2, SF3B4, KRT40, UBASH3A, RNF41


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_UBASH3A


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_UBASH3A


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