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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: 41374

FusionGeneSummary for VAV2_EFNB1

check button Fusion gene summary
Fusion gene informationFusion gene name: VAV2_EFNB1
Fusion gene ID: 41374
HgeneTgene
Gene symbol

VAV2

EFNB1

Gene ID

7410

1947

Gene namevav guanine nucleotide exchange factor 2ephrin B1
SynonymsVAV-2CFND|CFNS|EFB1|EFL3|EPLG2|Elk-L|LERK2
Cytomap

9q34.2

Xq13.1

Type of geneprotein-codingprotein-coding
Descriptionguanine nucleotide exchange factor VAV2vav 2 guanine nucleotide exchange factorvav 2 oncogeneephrin-B1ELK ligandeph-related receptor tyrosine kinase ligand 2
Modification date2018051920180523
UniProtAcc

P52735

P98172

Ensembl transtripts involved in fusion geneENST00000406606, ENST00000371850, 
ENST00000371851, ENST00000486113, 
ENST00000204961, 
Fusion gene scores* DoF score11 X 9 X 9=8912 X 2 X 1=4
# samples 142
** MAII scorelog2(14/891*10)=-2.66999860457696
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: VAV2 [Title/Abstract] AND EFNB1 [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
ChiTaRS3.1BF820909VAV2chr9

136633110

+EFNB1chrX

68060458

-
* 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-3CDSENST00000406606ENST00000204961VAV2chr9

136633110

+EFNB1chrX

68060458

-
intron-3CDSENST00000371850ENST00000204961VAV2chr9

136633110

+EFNB1chrX

68060458

-
intron-3CDSENST00000371851ENST00000204961VAV2chr9

136633110

+EFNB1chrX

68060458

-
intron-3CDSENST00000486113ENST00000204961VAV2chr9

136633110

+EFNB1chrX

68060458

-

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FusionProtFeatures for VAV2_EFNB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VAV2

P52735

EFNB1

P98172

Binds to the receptor tyrosine kinases EPHB1 and EPHA1.Binds to, and induce the collapse of, commissural axons/growthcones in vitro. May play a role in constraining the orientation oflongitudinally projecting axons (By similarity). {ECO:0000250}. Cell surface transmembrane ligand for Eph receptors, afamily of receptor tyrosine kinases which are crucial formigration, repulsion and adhesion during neuronal, vascular andepithelial development. Binds promiscuously Eph receptors residingon adjacent cells, leading to contact-dependent bidirectionalsignaling into neighboring cells. The signaling pathway downstreamof the receptor is referred to as forward signaling while thesignaling pathway downstream of the ephrin ligand is referred toas reverse signaling. Binds to the receptor tyrosine kinases EPHB3(preferred), EPHB1 and EPHA1. Binds to, and induce the collapseof, commissural axons/growth cones in vitro. May play a role inconstraining the orientation of longitudinally projecting axons(By similarity). {ECO:0000250}.

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 VAV2_EFNB1


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 VAV2_EFNB1


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 VAV2_EFNB1


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 VAV2_EFNB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEFNB1C0220767Craniofrontonasal dysplasia3CTD_human;ORPHANET;UNIPROT
TgeneEFNB1C0010278Craniosynostosis1CTD_human;HPO
TgeneEFNB1C0020534Orbital separation excessive1CTD_human;HPO
TgeneEFNB1C0021368Inflammation1CTD_human
TgeneEFNB1C0028754Obesity1CTD_human
TgeneEFNB1C1876203Frontonasal dysplasia1CTD_human