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Fusion gene ID: 11061 |
FusionGeneSummary for EFNA1_CPB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EFNA1_CPB1 | Fusion gene ID: 11061 | Hgene | Tgene | Gene symbol | EFNA1 | CPB1 | Gene ID | 1942 | 1360 |
| Gene name | ephrin A1 | carboxypeptidase B1 | |
| Synonyms | B61|ECKLG|EFL1|EPLG1|LERK-1|LERK1|TNFAIP4 | CPB|PASP|PCPB | |
| Cytomap | 1q22 | 3q24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ephrin-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 4 | carboxypeptidase Bcarboxypeptidase B1 (tissue)pancreas-specific proteinpancreatic carboxypeptidase Bprocarboxypeptidase Bprotaminasetissue carboxypeptidase B | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P20827 | P15086 | |
| Ensembl transtripts involved in fusion gene | ENST00000368407, ENST00000368406, ENST00000469878, | ENST00000491148, ENST00000282957, ENST00000498639, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 21 X 24 X 3=1512 |
| # samples | 4 | 19 | |
| ** MAII score | log2(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | EFNA1 | GO:0016477 | cell migration | 10655584 |
| Hgene | EFNA1 | GO:0033628 | regulation of cell adhesion mediated by integrin | 10655584 |
| Hgene | EFNA1 | GO:0034446 | substrate adhesion-dependent cell spreading | 10655584 |
| Hgene | EFNA1 | GO:0048013 | ephrin receptor signaling pathway | 10655584 |
| Hgene | EFNA1 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 10655584 |
| Hgene | EFNA1 | GO:1902004 | positive regulation of amyloid-beta formation | 24217950 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | BRCA | TCGA-D8-A1XG-01A | EFNA1 | chr1 | 155106250 | + | CPB1 | chr3 | 148552296 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shit | ENST00000368407 | ENST00000491148 | EFNA1 | chr1 | 155106250 | + | CPB1 | chr3 | 148552296 | + |
| Frame-shit | ENST00000368407 | ENST00000282957 | EFNA1 | chr1 | 155106250 | + | CPB1 | chr3 | 148552296 | + |
| 5CDS-intron | ENST00000368407 | ENST00000498639 | EFNA1 | chr1 | 155106250 | + | CPB1 | chr3 | 148552296 | + |
| Frame-shit | ENST00000368406 | ENST00000491148 | EFNA1 | chr1 | 155106250 | + | CPB1 | chr3 | 148552296 | + |
| Frame-shit | ENST00000368406 | ENST00000282957 | EFNA1 | chr1 | 155106250 | + | CPB1 | chr3 | 148552296 | + |
| 5CDS-intron | ENST00000368406 | ENST00000498639 | EFNA1 | chr1 | 155106250 | + | CPB1 | chr3 | 148552296 | + |
| 3UTR-3CDS | ENST00000469878 | ENST00000491148 | EFNA1 | chr1 | 155106250 | + | CPB1 | chr3 | 148552296 | + |
| 3UTR-3CDS | ENST00000469878 | ENST00000282957 | EFNA1 | chr1 | 155106250 | + | CPB1 | chr3 | 148552296 | + |
| 3UTR-intron | ENST00000469878 | ENST00000498639 | EFNA1 | chr1 | 155106250 | + | CPB1 | chr3 | 148552296 | + |
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FusionProtFeatures for EFNA1_CPB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EFNA1 | CPB1 |
| 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for EFNA1_CPB1 |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| EFNA1 | PPBP, EEF1G, KAT5, EPHA4, EPHA3, XRCC6, GAREM | CPB1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for EFNA1_CPB1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | CPB1 | P15086 | DB04272 | Citric Acid | Carboxypeptidase B | small molecule | approved|nutraceutical|vet_approved |
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RelatedDiseases for EFNA1_CPB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EFNA1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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