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Fusion gene ID: 22857 |
FusionGeneSummary for MUC13_EGFR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MUC13_EGFR | Fusion gene ID: 22857 | Hgene | Tgene | Gene symbol | MUC13 | EGFR | Gene ID | 56667 | 1956 |
| Gene name | mucin 13, cell surface associated | epidermal growth factor receptor | |
| Synonyms | DRCC1|MUC-13 | ERBB|ERBB1|HER1|NISBD2|PIG61|mENA | |
| Cytomap | 3q21.2 | 7p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mucin-13down-regulated in colon cancer 1mucin 13, epithelial transmembrane | epidermal growth factor receptoravian erythroblastic leukemia viral (v-erb-b) oncogene homologcell growth inhibiting protein 40cell proliferation-inducing protein 61epidermal growth factor receptor tyrosine kinase domainerb-b2 receptor tyrosine kinas | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q9H3R2 | P00533 | |
| Ensembl transtripts involved in fusion gene | ENST00000311075, ENST00000497378, | ENST00000455089, ENST00000342916, ENST00000344576, ENST00000420316, ENST00000275493, ENST00000442591, ENST00000463948, ENST00000454757, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 9 X 10 X 4=360 |
| # samples | 2 | 11 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(11/360*10)=-1.71049338280502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MUC13 [Title/Abstract] AND EGFR [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 |
| Tgene | EGFR | GO:0001934 | positive regulation of protein phosphorylation | 20551055 |
| Tgene | EGFR | GO:0007165 | signal transduction | 10572067 |
| Tgene | EGFR | GO:0007166 | cell surface receptor signaling pathway | 7736574 |
| Tgene | EGFR | GO:0007173 | epidermal growth factor receptor signaling pathway | 7736574|12435727 |
| Tgene | EGFR | GO:0008283 | cell proliferation | 17115032 |
| Tgene | EGFR | GO:0008284 | positive regulation of cell proliferation | 7736574 |
| Tgene | EGFR | GO:0010750 | positive regulation of nitric oxide mediated signal transduction | 12828935 |
| Tgene | EGFR | GO:0018108 | peptidyl-tyrosine phosphorylation | 22732145 |
| Tgene | EGFR | GO:0030307 | positive regulation of cell growth | 15467833 |
| Tgene | EGFR | GO:0031659 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle | 18483258 |
| Tgene | EGFR | GO:0042177 | negative regulation of protein catabolic process | 17115032 |
| Tgene | EGFR | GO:0042327 | positive regulation of phosphorylation | 15082764 |
| Tgene | EGFR | GO:0043406 | positive regulation of MAP kinase activity | 10572067 |
| Tgene | EGFR | GO:0045739 | positive regulation of DNA repair | 17115032 |
| Tgene | EGFR | GO:0045740 | positive regulation of DNA replication | 17115032 |
| Tgene | EGFR | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20551055 |
| Tgene | EGFR | GO:0050679 | positive regulation of epithelial cell proliferation | 10572067 |
| Tgene | EGFR | GO:0050999 | regulation of nitric-oxide synthase activity | 12828935 |
| Tgene | EGFR | GO:0070141 | response to UV-A | 18483258 |
| Tgene | EGFR | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 20551055 |
| Tgene | EGFR | GO:0071392 | cellular response to estradiol stimulus | 20551055 |
| Tgene | EGFR | GO:1900020 | positive regulation of protein kinase C activity | 22732145 |
| Tgene | EGFR | GO:1903078 | positive regulation of protein localization to plasma membrane | 22732145 |
| 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 | AW006478 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| * 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 | ENST00000311075 | ENST00000455089 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000311075 | ENST00000342916 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000311075 | ENST00000344576 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000311075 | ENST00000420316 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000311075 | ENST00000275493 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000311075 | ENST00000442591 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000311075 | ENST00000463948 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000311075 | ENST00000454757 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000497378 | ENST00000455089 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000497378 | ENST00000342916 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000497378 | ENST00000344576 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000497378 | ENST00000420316 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000497378 | ENST00000275493 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000497378 | ENST00000442591 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000497378 | ENST00000463948 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
| intron-intron | ENST00000497378 | ENST00000454757 | MUC13 | chr3 | 124624444 | + | EGFR | chr7 | 55194264 | - |
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FusionProtFeatures for MUC13_EGFR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MUC13 | EGFR |
| Epithelial and hemopoietic transmembrane mucin that mayplay a role in cell signaling. |
| 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 MUC13_EGFR |
| 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 MUC13_EGFR |
| 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 MUC13_EGFR |
| 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 | EGFR | P00533 | DB00002 | Cetuximab | Epidermal growth factor receptor | biotech | approved |
| Tgene | EGFR | P00533 | DB05294 | Vandetanib | Epidermal growth factor receptor | small molecule | approved |
| Tgene | EGFR | P00533 | DB08916 | Afatinib | Epidermal growth factor receptor | small molecule | approved |
| Tgene | EGFR | P00533 | DB00072 | Trastuzumab | Epidermal growth factor receptor | biotech | approved|investigational |
| Tgene | EGFR | P00533 | DB00317 | Gefitinib | Epidermal growth factor receptor | small molecule | approved|investigational |
| Tgene | EGFR | P00533 | DB00530 | Erlotinib | Epidermal growth factor receptor | small molecule | approved|investigational |
| Tgene | EGFR | P00533 | DB01259 | Lapatinib | Epidermal growth factor receptor | small molecule | approved|investigational |
| Tgene | EGFR | P00533 | DB01269 | Panitumumab | Epidermal growth factor receptor | biotech | approved|investigational |
| Tgene | EGFR | P00533 | DB09559 | Necitumumab | Epidermal growth factor receptor | biotech | approved|investigational |
| Tgene | EGFR | P00533 | DB00281 | Lidocaine | Epidermal growth factor receptor | small molecule | approved|vet_approved |
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RelatedDiseases for MUC13_EGFR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EGFR | C0007131 | Non-Small Cell Lung Carcinoma | 16 | CTD_human |
| Tgene | EGFR | C1458155 | Mammary Neoplasms | 6 | CTD_human |
| Tgene | EGFR | C0024121 | Lung Neoplasms | 5 | CTD_human |
| Tgene | EGFR | C0001418 | Adenocarcinoma | 4 | CTD_human |
| Tgene | EGFR | C0007137 | Squamous cell carcinoma | 3 | CTD_human |
| Tgene | EGFR | C0007873 | Uterine Cervical Neoplasm | 3 | CTD_human |
| Tgene | EGFR | C0014859 | Esophageal Neoplasms | 3 | CTD_human |
| Tgene | EGFR | C0017636 | Glioblastoma | 3 | CTD_human |
| Tgene | EGFR | C0018671 | Head and Neck Neoplasms | 3 | CTD_human |
| Tgene | EGFR | C0027627 | Neoplasm Metastasis | 3 | CTD_human |
| Tgene | EGFR | C0033578 | Prostatic Neoplasms | 3 | CTD_human |
| Tgene | EGFR | C0038356 | Stomach Neoplasms | 3 | CTD_human |
| Tgene | EGFR | C0005695 | Bladder Neoplasm | 2 | CTD_human |
| Tgene | EGFR | C0009375 | Colonic Neoplasms | 2 | CTD_human |
| Tgene | EGFR | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| Tgene | EGFR | C0024668 | Mammary Neoplasms, Experimental | 2 | CTD_human |
| Tgene | EGFR | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
| Tgene | EGFR | C0027643 | Neoplasm Recurrence, Local | 2 | CTD_human |
| Tgene | EGFR | C0152013 | Adenocarcinoma of lung (disorder) | 2 | CTD_human |
| Tgene | EGFR | C0919267 | ovarian neoplasm | 2 | CTD_human |
| Tgene | EGFR | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Tgene | EGFR | C0005396 | Bile Duct Neoplasms | 1 | CTD_human |
| Tgene | EGFR | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human |
| Tgene | EGFR | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Tgene | EGFR | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | EGFR | C0016978 | gallbladder neoplasm | 1 | CTD_human |
| Tgene | EGFR | C0021655 | Insulin Resistance | 1 | CTD_human |
| Tgene | EGFR | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | EGFR | C0024809 | Marijuana Abuse | 1 | PSYGENET |
| Tgene | EGFR | C0025500 | Mesothelioma | 1 | CTD_human |
| Tgene | EGFR | C0027439 | Nasopharyngeal Neoplasms | 1 | CTD_human |
| Tgene | EGFR | C0029463 | Osteosarcoma | 1 | CTD_human |
| Tgene | EGFR | C0030354 | Papilloma | 1 | CTD_human |
| Tgene | EGFR | C0032580 | Adenomatous Polyposis Coli | 1 | CTD_human |
| Tgene | EGFR | C0034885 | Rectal Neoplasms | 1 | CTD_human |
| Tgene | EGFR | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | EGFR | C0085548 | Autosomal Recessive Polycystic Kidney Disease | 1 | CTD_human |
| Tgene | EGFR | C0085762 | Alcohol abuse | 1 | PSYGENET |
| Tgene | EGFR | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Tgene | EGFR | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| Tgene | EGFR | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
| Tgene | EGFR | C0263454 | Chloracne | 1 | CTD_human |
| Tgene | EGFR | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Tgene | EGFR | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Tgene | EGFR | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | EGFR | C0993582 | Arthritis, Experimental | 1 | CTD_human |
| Tgene | EGFR | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | EGFR | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | EGFR | C2609414 | Acute kidney injury | 1 | CTD_human |
| Tgene | EGFR | C4015130 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 | 1 | UNIPROT |
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