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Fusion gene ID: 11073 |
FusionGeneSummary for EFNA5_MCC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EFNA5_MCC | Fusion gene ID: 11073 | Hgene | Tgene | Gene symbol | EFNA5 | MCC | Gene ID | 1946 | 4163 |
| Gene name | ephrin A5 | MCC, WNT signaling pathway regulator | |
| Synonyms | AF1|EFL5|EPLG7|GLC1M|LERK7|RAGS | MCC1 | |
| Cytomap | 5q21.3 | 5q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ephrin-A5AL-1LERK-7eph-related receptor tyrosine kinase ligand 7 | colorectal mutant cancer proteinmutated in colorectal cancers | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P52803 | P23508 | |
| Ensembl transtripts involved in fusion gene | ENST00000333274, ENST00000509503, ENST00000510359, | ENST00000302475, ENST00000514701, ENST00000515367, ENST00000408903, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 7 X 8 X 5=280 |
| # samples | 4 | 8 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EFNA5 [Title/Abstract] AND MCC [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 | EFNA5 | GO:0006915 | apoptotic process | 11870224 |
| Hgene | EFNA5 | GO:0022407 | regulation of cell-cell adhesion | 11870224 |
| Hgene | EFNA5 | GO:0022604 | regulation of cell morphogenesis | 23242526 |
| Hgene | EFNA5 | GO:0032956 | regulation of actin cytoskeleton organization | 11870224 |
| Hgene | EFNA5 | GO:0043087 | regulation of GTPase activity | 11870224 |
| Hgene | EFNA5 | GO:0048013 | ephrin receptor signaling pathway | 11870224 |
| Hgene | EFNA5 | GO:0051893 | regulation of focal adhesion assembly | 11870224 |
| Hgene | EFNA5 | GO:0070507 | regulation of microtubule cytoskeleton organization | 11870224 |
| Hgene | EFNA5 | GO:1900025 | negative regulation of substrate adhesion-dependent cell spreading | 23242526 |
| Tgene | MCC | GO:0045184 | establishment of protein localization | 18591935 |
| Tgene | MCC | GO:0050680 | negative regulation of epithelial cell proliferation | 18591935 |
| Tgene | MCC | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 18591935 |
| 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 | RV | BLCA | TCGA-G2-AA3B-01A | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| * 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 |
| 5CDS-intron | ENST00000333274 | ENST00000302475 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| 5CDS-intron | ENST00000333274 | ENST00000514701 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| 5CDS-intron | ENST00000333274 | ENST00000515367 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| 5CDS-intron | ENST00000333274 | ENST00000408903 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| 5CDS-intron | ENST00000509503 | ENST00000302475 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| 5CDS-intron | ENST00000509503 | ENST00000514701 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| 5CDS-intron | ENST00000509503 | ENST00000515367 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| 5CDS-intron | ENST00000509503 | ENST00000408903 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| intron-intron | ENST00000510359 | ENST00000302475 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| intron-intron | ENST00000510359 | ENST00000514701 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| intron-intron | ENST00000510359 | ENST00000515367 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
| intron-intron | ENST00000510359 | ENST00000408903 | EFNA5 | chr5 | 107006190 | - | MCC | chr5 | 112720909 | - |
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FusionProtFeatures for EFNA5_MCC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EFNA5 | MCC |
| 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. 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. Induces compartmentalized signaling within acaveolae-like membrane microdomain when bound to the extracellulardomain of its cognate receptor. This signaling event requires theactivity of the Fyn tyrosine kinase. Activates the EPHA3 receptorto regulate cell-cell adhesion and cytoskeletal organization. Withthe receptor EPHA2 may regulate lens fiber cells shape andinteractions and be important for lens transparency maintenance.May function actively to stimulate axon fasciculation. Theinteraction of EFNA5 with EPHA5 also mediates communicationbetween pancreatic islet cells to regulate glucose-stimulatedinsulin secretion. Cognate/functional ligand for EPHA7, theirinteraction regulates brain development modulating cell-celladhesion and repulsion. {ECO:0000269|PubMed:10601038,ECO:0000269|PubMed:11870224}. | Candidate for the putative colorectal tumor suppressorgene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA bindingof b-catenin/TCF/LEF transcription factors. Involved in cellmigration independently of RAC1, CDC42 and p21-activated kinase(PAK) activation (PubMed:18591935, PubMed:19555689,PubMed:22480440). Represses the beta-catenin pathway (canonicalWnt signaling pathway) in a CCAR2-dependent manner by sequesteringCCAR2 to the cytoplasm, thereby impairing its ability to inhibitSIRT1 which is involved in the deacetylation and negativeregulation of beta-catenin (CTNB1) transcriptional activity(PubMed:24824780). {ECO:0000269|PubMed:18591935,ECO:0000269|PubMed:19555689, ECO:0000269|PubMed:22480440,ECO:0000269|PubMed:24824780}. |
| 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 EFNA5_MCC |
| 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 EFNA5_MCC |
| 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 |
| EFNA5 | EPHA7, EPHA3, EPHB1, SRC, GRIP1, MYC, EPHA8, GJB7, CYP2S1, MED21 | MCC | CLTC, STRN, STK24, STRN3, STRN4, EPRS, PPP2R1A, VCP, CSNK1D, MYH10, KRT18, TPM3, CSNK1E, EIF3A, PFAS, IARS, TARS, PFKP, SNRNP200, MTHFD1, PDCD10, DFFA, PSME3, MARS, CBR1, VDAC1, STRIP1, HPRT1, PSMD2, CCNA1, EZR, VHL, PAICS, VPS35, LTA4H, DYNC1I1, NEK2, APP, ERBB2IP, GTF2E2, CBX5, CCAR2, NFKBIB, MAGEE1, SYNC, CCDC83, DAB2IP, DFNB31, MTNR1A |
| - 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 EFNA5_MCC |
| 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 |
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RelatedDiseases for EFNA5_MCC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EFNA5 | C0035126 | Reperfusion Injury | 1 | CTD_human |
| Tgene | MCC | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | MCC | C0032580 | Adenomatous Polyposis Coli | 1 | CTD_human |
| Tgene | MCC | C0034885 | Rectal Neoplasms | 1 | CTD_human |
| Tgene | MCC | C3714756 | Intellectual Disability | 1 | CTD_human |
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