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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: 11061

FusionGeneSummary for EFNA1_CPB1

check button Fusion gene summary
Fusion gene informationFusion gene name: EFNA1_CPB1
Fusion gene ID: 11061
HgeneTgene
Gene symbol

EFNA1

CPB1

Gene ID

1942

1360

Gene nameephrin A1carboxypeptidase B1
SynonymsB61|ECKLG|EFL1|EPLG1|LERK-1|LERK1|TNFAIP4CPB|PASP|PCPB
Cytomap

1q22

3q24

Type of geneprotein-codingprotein-coding
Descriptionephrin-A1TNF alpha-induced protein 4eph-related receptor tyrosine kinase ligand 1immediate early response protein B61ligand of eph-related kinase 1tumor necrosis factor, alpha-induced protein 4carboxypeptidase Bcarboxypeptidase B1 (tissue)pancreas-specific proteinpancreatic carboxypeptidase Bprocarboxypeptidase Bprotaminasetissue carboxypeptidase B
Modification date2018052320180523
UniProtAcc

P20827

P15086

Ensembl transtripts involved in fusion geneENST00000368407, ENST00000368406, 
ENST00000469878, 
ENST00000491148, 
ENST00000282957, ENST00000498639, 
Fusion gene scores* DoF score4 X 4 X 4=6421 X 24 X 3=1512
# samples 419
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1512*10)=-2.99238681589013
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EFNA1 [Title/Abstract] AND CPB1 [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
HgeneEFNA1

GO:0016477

cell migration

10655584

HgeneEFNA1

GO:0033628

regulation of cell adhesion mediated by integrin

10655584

HgeneEFNA1

GO:0034446

substrate adhesion-dependent cell spreading

10655584

HgeneEFNA1

GO:0048013

ephrin receptor signaling pathway

10655584

HgeneEFNA1

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

10655584

HgeneEFNA1

GO:1902004

positive regulation of amyloid-beta formation

24217950


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
TCGALDBRCATCGA-D8-A1XG-01AEFNA1chr1

155106250

+CPB1chr3

148552296

+
* 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
Frame-shitENST00000368407ENST00000491148EFNA1chr1

155106250

+CPB1chr3

148552296

+
Frame-shitENST00000368407ENST00000282957EFNA1chr1

155106250

+CPB1chr3

148552296

+
5CDS-intronENST00000368407ENST00000498639EFNA1chr1

155106250

+CPB1chr3

148552296

+
Frame-shitENST00000368406ENST00000491148EFNA1chr1

155106250

+CPB1chr3

148552296

+
Frame-shitENST00000368406ENST00000282957EFNA1chr1

155106250

+CPB1chr3

148552296

+
5CDS-intronENST00000368406ENST00000498639EFNA1chr1

155106250

+CPB1chr3

148552296

+
3UTR-3CDSENST00000469878ENST00000491148EFNA1chr1

155106250

+CPB1chr3

148552296

+
3UTR-3CDSENST00000469878ENST00000282957EFNA1chr1

155106250

+CPB1chr3

148552296

+
3UTR-intronENST00000469878ENST00000498639EFNA1chr1

155106250

+CPB1chr3

148552296

+

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FusionProtFeatures for EFNA1_CPB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EFNA1

P20827

CPB1

P15086

Cell surface GPI-bound 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. Plays an important role inangiogenesis and tumor neovascularization. The recruitment ofVAV2, VAV3 and PI3-kinase p85 subunit by phosphorylated EPHA2 iscritical for EFNA1-induced RAC1 GTPase activation and vascularendothelial cell migration and assembly. Exerts anti-oncogeniceffects in tumor cells through activation and down-regulation ofEPHA2. Activates EPHA2 by inducing tyrosine phosphorylation whichleads to its internalization and degradation. Acts as a negativeregulator in the tumorigenesis of gliomas by down-regulating EPHA2and FAK. Can evoke collapse of embryonic neuronal growth cone andregulates dendritic spine morphogenesis.{ECO:0000269|PubMed:17332925, ECO:0000269|PubMed:18794797}.

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 EFNA1_CPB1


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 EFNA1_CPB1


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
EFNA1PPBP, EEF1G, KAT5, EPHA4, EPHA3, XRCC6, GAREMCPB1


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 EFNA1_CPB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCPB1P15086DB04272Citric AcidCarboxypeptidase Bsmall moleculeapproved|nutraceutical|vet_approved

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RelatedDiseases for EFNA1_CPB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEFNA1C1458155Mammary Neoplasms1CTD_human