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Fusion gene ID: 694 |
FusionGeneSummary for ADAM17_ORAOV1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ADAM17_ORAOV1 | Fusion gene ID: 694 | Hgene | Tgene | Gene symbol | ADAM17 | ORAOV1 | Gene ID | 6868 |
| Gene name | ADAM metallopeptidase domain 17 | ||
| Synonyms | ADAM18|CD156B|CSVP|NISBD|NISBD1|TACE | ||
| Cytomap | 2p25.1 | ||
| Type of gene | protein-coding | ||
| Description | disintegrin and metalloproteinase domain-containing protein 17ADAM metallopeptidase domain 18TNF-alpha convertaseTNF-alpha converting enzymesnake venom-like proteasetumor necrosis factor, alpha, converting enzyme | ||
| Modification date | 20180520 | ||
| UniProtAcc | P78536 | Q8WV07 | |
| Ensembl transtripts involved in fusion gene | ENST00000310823, ENST00000497134, | ENST00000542515, ENST00000279147, ENST00000536870, ENST00000535657, ENST00000539414, ENST00000542341, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 5 X 4 X 4=80 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/80*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ADAM17 [Title/Abstract] AND ORAOV1 [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 | ADAM17 | GO:0001666 | response to hypoxia | 18276953 |
| Hgene | ADAM17 | GO:0006508 | proteolysis | 24227843 |
| Hgene | ADAM17 | GO:0006509 | membrane protein ectodomain proteolysis | 9034190|9574564|17786981|18676862 |
| Hgene | ADAM17 | GO:0007155 | cell adhesion | 14970227 |
| Hgene | ADAM17 | GO:0007173 | epidermal growth factor receptor signaling pathway | 12743035 |
| Hgene | ADAM17 | GO:0007220 | Notch receptor processing | 24226769 |
| Hgene | ADAM17 | GO:0031659 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle | 18483258 |
| Hgene | ADAM17 | GO:0032496 | response to lipopolysaccharide | 18383040 |
| Hgene | ADAM17 | GO:0033627 | cell adhesion mediated by integrin | 14970227 |
| Hgene | ADAM17 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 24813629 |
| Hgene | ADAM17 | GO:0045741 | positive regulation of epidermal growth factor-activated receptor activity | 18483258 |
| Hgene | ADAM17 | GO:0051088 | PMA-inducible membrane protein ectodomain proteolysis | 14625290|15691827|17010968 |
| Hgene | ADAM17 | GO:0071403 | cellular response to high density lipoprotein particle stimulus | 17786981 |
| Hgene | ADAM17 | GO:1905564 | positive regulation of vascular endothelial cell proliferation | 24813629 |
| 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 | BLCA | TCGA-XF-A9SV-01A | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| * 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-5UTR | ENST00000310823 | ENST00000542515 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| 5CDS-intron | ENST00000310823 | ENST00000279147 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| 5CDS-intron | ENST00000310823 | ENST00000536870 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| 5CDS-intron | ENST00000310823 | ENST00000535657 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| 5CDS-intron | ENST00000310823 | ENST00000539414 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| 5CDS-intron | ENST00000310823 | ENST00000542341 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| 5CDS-5UTR | ENST00000497134 | ENST00000542515 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| 5CDS-intron | ENST00000497134 | ENST00000279147 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| 5CDS-intron | ENST00000497134 | ENST00000536870 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| 5CDS-intron | ENST00000497134 | ENST00000535657 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| 5CDS-intron | ENST00000497134 | ENST00000539414 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
| 5CDS-intron | ENST00000497134 | ENST00000542341 | ADAM17 | chr2 | 9675963 | - | ORAOV1 | chr11 | 69471420 | - |
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FusionProtFeatures for ADAM17_ORAOV1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ADAM17 | ORAOV1 |
| Cleaves the membrane-bound precursor of TNF-alpha to itsmature soluble form. Responsible for the proteolytical release ofsoluble JAM3 from endothelial cells surface. Responsible for theproteolytic release of several other cell-surface proteins,including p75 TNF-receptor, interleukin 1 receptor type II, p55TNF-receptor, transforming growth factor-alpha, L-selectin, growthhormone receptor, MUC1 and the amyloid precursor protein. Acts asan activator of Notch pathway by mediating cleavage of Notch,generating the membrane-associated intermediate fragment calledNotch extracellular truncation (NEXT). Plays a role in theproteolytic processing of ACE2. {ECO:0000269|PubMed:12441351,ECO:0000269|PubMed:20592283, ECO:0000269|PubMed:24226769,ECO:0000269|PubMed:24227843}. |
| 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 ADAM17_ORAOV1 |
| 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 ADAM17_ORAOV1 |
| 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 |
| ADAM17 | DLG1, MAPK1, MAD2L1, TIMP3, FBXO6, PDIA3, TNFRSF1A, TNFRSF1B, EED, PXN, PTCH1, TGFA, CDH1, SDK2, LMAN2L, INSL5, ST8SIA4, LRRC3 | ORAOV1 | ELAVL1, CAND1, MSH3, YAE1D1, MMS19, ABCE1, TRIM25 |
| - 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 ADAM17_ORAOV1 |
| 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 ADAM17_ORAOV1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ADAM17 | C0005758 | Bulla | 1 | CTD_human |
| Hgene | ADAM17 | C0009319 | Colitis | 1 | CTD_human |
| Hgene | ADAM17 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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