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Fusion gene ID: 11791 |
FusionGeneSummary for EPCAM_HERC3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPCAM_HERC3 | Fusion gene ID: 11791 | Hgene | Tgene | Gene symbol | EPCAM | HERC3 | Gene ID | 4072 | 8916 |
| Gene name | epithelial cell adhesion molecule | HECT and RLD domain containing E3 ubiquitin protein ligase 3 | |
| Synonyms | DIAR5|EGP-2|EGP314|EGP40|ESA|HNPCC8|KS1/4|KSA|M4S1|MIC18|MK-1|TACSTD1|TROP1 | - | |
| Cytomap | 2p21 | 4q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | epithelial cell adhesion moleculeadenocarcinoma-associated antigencell surface glycoprotein Trop-1epithelial glycoprotein 314human epithelial glycoprotein-2major gastrointestinal tumor-associated protein GA733-2membrane component, chromosome 4, surf | probable E3 ubiquitin-protein ligase HERC3HECT domain and RCC1-like domain-containing protein 3HECT-type E3 ubiquitin transferase HERC3hect domain and RLD 3 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P16422 | Q15034 | |
| Ensembl transtripts involved in fusion gene | ENST00000405271, ENST00000263735, | ENST00000402738, ENST00000407637, ENST00000601319, ENST00000264345, ENST00000543130, | |
| Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 2 X 2 X 1=4 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/50*10)=0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: EPCAM [Title/Abstract] AND HERC3 [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 | EPCAM | GO:0008284 | positive regulation of cell proliferation | 15195135 |
| Hgene | EPCAM | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15195135|15922867 |
| Hgene | EPCAM | GO:2000048 | negative regulation of cell-cell adhesion mediated by cadherin | 9382878 |
| 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 |
| ChiTaRS3.1 | BE177710 | EPCAM | chr2 | 47602378 | - | HERC3 | chr4 | 89573446 | - |
| * 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 |
| intron-intron | ENST00000405271 | ENST00000402738 | EPCAM | chr2 | 47602378 | - | HERC3 | chr4 | 89573446 | - |
| intron-intron | ENST00000405271 | ENST00000407637 | EPCAM | chr2 | 47602378 | - | HERC3 | chr4 | 89573446 | - |
| intron-intron | ENST00000405271 | ENST00000601319 | EPCAM | chr2 | 47602378 | - | HERC3 | chr4 | 89573446 | - |
| intron-intron | ENST00000405271 | ENST00000264345 | EPCAM | chr2 | 47602378 | - | HERC3 | chr4 | 89573446 | - |
| intron-intron | ENST00000405271 | ENST00000543130 | EPCAM | chr2 | 47602378 | - | HERC3 | chr4 | 89573446 | - |
| intron-intron | ENST00000263735 | ENST00000402738 | EPCAM | chr2 | 47602378 | - | HERC3 | chr4 | 89573446 | - |
| intron-intron | ENST00000263735 | ENST00000407637 | EPCAM | chr2 | 47602378 | - | HERC3 | chr4 | 89573446 | - |
| intron-intron | ENST00000263735 | ENST00000601319 | EPCAM | chr2 | 47602378 | - | HERC3 | chr4 | 89573446 | - |
| intron-intron | ENST00000263735 | ENST00000264345 | EPCAM | chr2 | 47602378 | - | HERC3 | chr4 | 89573446 | - |
| intron-intron | ENST00000263735 | ENST00000543130 | EPCAM | chr2 | 47602378 | - | HERC3 | chr4 | 89573446 | - |
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FusionProtFeatures for EPCAM_HERC3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPCAM | HERC3 |
| May act as a physical homophilic interaction moleculebetween intestinal epithelial cells (IECs) and intraepitheliallymphocytes (IELs) at the mucosal epithelium for providingimmunological barrier as a first line of defense against mucosalinfection. Plays a role in embryonic stem cells proliferation anddifferentiation. Up-regulates the expression of FABP5, MYC andcyclins A and E. {ECO:0000269|PubMed:15195135,ECO:0000269|PubMed:15922867, ECO:0000269|PubMed:19785009,ECO:0000269|PubMed:20064925}. | E3 ubiquitin-protein ligase which accepts ubiquitin froman E2 ubiquitin-conjugating enzyme in the form of a thioester andthen directly transfers the ubiquitin to targeted substrates.{ECO:0000250}. |
| 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 EPCAM_HERC3 |
| 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 EPCAM_HERC3 |
| 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 |
| - 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 EPCAM_HERC3 |
| 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 |
| Hgene | EPCAM | P16422 | DB11075 | Hypromellose | Epithelial cell adhesion molecule | small molecule | approved |
| Hgene | EPCAM | P16422 | DB06607 | Catumaxomab | Epithelial cell adhesion molecule | biotech | approved|investigational|withdrawn |
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RelatedDiseases for EPCAM_HERC3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EPCAM | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 1 | CTD_human |
| Hgene | EPCAM | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | EPCAM | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | EPCAM | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | EPCAM | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Hgene | EPCAM | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | EPCAM | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Hgene | EPCAM | C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | EPCAM | C2931459 | Lynch syndrome I (site-specific colonic cancer) | 1 | CTD_human |
| Tgene | HERC3 | C0023903 | Liver neoplasms | 1 | CTD_human |
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