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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:ADAM17-NHEJ1 (FusionGDB2 ID:1979) |
Fusion Gene Summary for ADAM17-NHEJ1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ADAM17-NHEJ1 | Fusion gene ID: 1979 | Hgene | Tgene | Gene symbol | ADAM17 | NHEJ1 | Gene ID | 6868 | 79840 |
| Gene name | ADAM metallopeptidase domain 17 | non-homologous end joining factor 1 | |
| Synonyms | ADAM18|CD156B|CSVP|NISBD|NISBD1|TACE | XLF | |
| Cytomap | 2p25.1 | 2q35 | |
| Type of gene | protein-coding | 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 | non-homologous end-joining factor 1XRCC4-like factornonhomologous end-joining factor 1protein cernunnos | |
| Modification date | 20200320 | 20200313 | |
| UniProtAcc | P78536 | Q9H9Q4 | |
| Ensembl transtripts involved in fusion gene | ENST00000310823, ENST00000497134, | ENST00000483627, ENST00000356853, ENST00000409720, | |
| Fusion gene scores | * DoF score | 6 X 8 X 6=288 | 6 X 4 X 6=144 |
| # samples | 11 | 8 | |
| ** MAII score | log2(11/288*10)=-1.38856528791765 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/144*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ADAM17 [Title/Abstract] AND NHEJ1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ADAM17(9633875)-NHEJ1(220023084), # samples:1 ADAM17(9633876)-NHEJ1(220023084), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ADAM17-NHEJ1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. | ||
| * 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: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 |
| Tgene | NHEJ1 | GO:0010212 | response to ionizing radiation | 16439205 |
| Fusion gene breakpoints across ADAM17 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across NHEJ1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | GBM | TCGA-19-2629-01A | ADAM17 | chr2 | 9633876 | - | NHEJ1 | chr2 | 220023084 | - |
| ChimerDB4 | GBM | TCGA-19-2629 | ADAM17 | chr2 | 9633875 | - | NHEJ1 | chr2 | 220023084 | - |
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Fusion Gene ORF analysis for ADAM17-NHEJ1 |
| 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 | ENST00000310823 | ENST00000483627 | ADAM17 | chr2 | 9633876 | - | NHEJ1 | chr2 | 220023084 | - |
| 5CDS-intron | ENST00000310823 | ENST00000483627 | ADAM17 | chr2 | 9633875 | - | NHEJ1 | chr2 | 220023084 | - |
| Frame-shift | ENST00000310823 | ENST00000356853 | ADAM17 | chr2 | 9633876 | - | NHEJ1 | chr2 | 220023084 | - |
| Frame-shift | ENST00000310823 | ENST00000356853 | ADAM17 | chr2 | 9633875 | - | NHEJ1 | chr2 | 220023084 | - |
| Frame-shift | ENST00000310823 | ENST00000409720 | ADAM17 | chr2 | 9633876 | - | NHEJ1 | chr2 | 220023084 | - |
| Frame-shift | ENST00000310823 | ENST00000409720 | ADAM17 | chr2 | 9633875 | - | NHEJ1 | chr2 | 220023084 | - |
| intron-3CDS | ENST00000497134 | ENST00000356853 | ADAM17 | chr2 | 9633876 | - | NHEJ1 | chr2 | 220023084 | - |
| intron-3CDS | ENST00000497134 | ENST00000356853 | ADAM17 | chr2 | 9633875 | - | NHEJ1 | chr2 | 220023084 | - |
| intron-3CDS | ENST00000497134 | ENST00000409720 | ADAM17 | chr2 | 9633876 | - | NHEJ1 | chr2 | 220023084 | - |
| intron-3CDS | ENST00000497134 | ENST00000409720 | ADAM17 | chr2 | 9633875 | - | NHEJ1 | chr2 | 220023084 | - |
| intron-intron | ENST00000497134 | ENST00000483627 | ADAM17 | chr2 | 9633876 | - | NHEJ1 | chr2 | 220023084 | - |
| intron-intron | ENST00000497134 | ENST00000483627 | ADAM17 | chr2 | 9633875 | - | NHEJ1 | chr2 | 220023084 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ADAM17-NHEJ1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for ADAM17-NHEJ1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:9633875/:220023084) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ADAM17 | NHEJ1 |
| FUNCTION: Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form (PubMed:9034191). Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein (PubMed:12441351). Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) (PubMed:24226769). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Plays a role in hemostasis through shedding of GP1BA, the platelet glycoprotein Ib alpha chain (By similarity). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). Mediates the proteolytic cleavage of IL6R, leading to the release of secreted form of IL6R (PubMed:26876177, PubMed:28060820). {ECO:0000250|UniProtKB:Q9Z0F8, ECO:0000269|PubMed:12441351, ECO:0000269|PubMed:20592283, ECO:0000269|PubMed:24226769, ECO:0000269|PubMed:24227843, ECO:0000269|PubMed:26876177, ECO:0000269|PubMed:28060820, ECO:0000269|PubMed:9034191}. | FUNCTION: DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary (PubMed:16439204, PubMed:16439205, PubMed:17470781). Binds DNA in a length-dependent manner (PubMed:17317666). {ECO:0000269|PubMed:16439204, ECO:0000269|PubMed:16439205, ECO:0000269|PubMed:17317666, ECO:0000269|PubMed:17470781}. |
| 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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Fusion Gene Sequence for ADAM17-NHEJ1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for ADAM17-NHEJ1 |
| 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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Related Drugs for ADAM17-NHEJ1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ADAM17-NHEJ1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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