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Fusion gene ID: 9112 |
FusionGeneSummary for CYBB_ADAM10 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CYBB_ADAM10 | Fusion gene ID: 9112 | Hgene | Tgene | Gene symbol | CYBB | ADAM10 | Gene ID | 1536 | 102 |
| Gene name | cytochrome b-245 beta chain | ADAM metallopeptidase domain 10 | |
| Synonyms | AMCBX2|CGD|GP91-1|GP91-PHOX|GP91PHOX|IMD34|NOX2|p91-PHOX | AD10|AD18|CD156c|CDw156|HsT18717|MADM|RAK|kuz | |
| Cytomap | Xp21.1-p11.4 | 15q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cytochrome b-245 heavy chainCGD91-phoxNADPH oxidase 2cytochrome b(558) subunit betacytochrome b-245 beta polypeptidecytochrome b558 subunit betaheme-binding membrane glycoprotein gp91phoxneutrophil cytochrome b 91 kDa polypeptidep22 phagocyte B-cy | disintegrin and metalloproteinase domain-containing protein 10a disintegrin and metalloprotease domain 10kuzbanian protein homologmammalian disintegrin-metalloprotease | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | P04839 | O14672 | |
| Ensembl transtripts involved in fusion gene | ENST00000378588, ENST00000545017, ENST00000536160, ENST00000492288, | ENST00000260408, ENST00000402627, ENST00000561288, ENST00000396140, ENST00000558733, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 4 X 4=64 |
| # samples | 1 | 4 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CYBB [Title/Abstract] AND ADAM10 [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 | CYBB | GO:0006801 | superoxide metabolic process | 12042318 |
| Hgene | CYBB | GO:0042554 | superoxide anion generation | 12042318 |
| Hgene | CYBB | GO:0055114 | oxidation-reduction process | 12042318 |
| Tgene | ADAM10 | GO:0006509 | membrane protein ectodomain proteolysis | 12714508|17557115|18355449|18419754|18676862|19114711 |
| Tgene | ADAM10 | GO:0007162 | negative regulation of cell adhesion | 12714508 |
| Tgene | ADAM10 | GO:0034612 | response to tumor necrosis factor | 11831872 |
| Tgene | ADAM10 | GO:0051089 | constitutive protein ectodomain proteolysis | 12714508 |
| 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 | Z48614 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| * 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-3CDS | ENST00000378588 | ENST00000260408 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000378588 | ENST00000402627 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000378588 | ENST00000561288 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000378588 | ENST00000396140 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000378588 | ENST00000558733 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-3CDS | ENST00000545017 | ENST00000260408 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000545017 | ENST00000402627 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000545017 | ENST00000561288 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000545017 | ENST00000396140 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000545017 | ENST00000558733 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-3CDS | ENST00000536160 | ENST00000260408 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000536160 | ENST00000402627 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000536160 | ENST00000561288 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000536160 | ENST00000396140 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000536160 | ENST00000558733 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-3CDS | ENST00000492288 | ENST00000260408 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000492288 | ENST00000402627 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000492288 | ENST00000561288 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000492288 | ENST00000396140 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
| intron-intron | ENST00000492288 | ENST00000558733 | CYBB | chrX | 37669885 | - | ADAM10 | chr15 | 58913713 | - |
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FusionProtFeatures for CYBB_ADAM10 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CYBB | ADAM10 |
| Critical component of the membrane-bound oxidase ofphagocytes that generates superoxide. It is the terminal componentof a respiratory chain that transfers single electrons fromcytoplasmic NADPH across the plasma membrane to molecular oxygenon the exterior. Also functions as a voltage-gated proton channelthat mediates the H(+) currents of resting phagocytes. Itparticipates in the regulation of cellular pH and is blocked byzinc. | Cleaves the membrane-bound precursor of TNF-alpha at'76-Ala-|-Val-77' to its mature soluble form. Responsible for theproteolytical release of soluble JAM3 from endothelial cellssurface (PubMed:20592283). Responsible for the proteolytic releaseof several other cell-surface proteins, including heparin-bindingepidermal growth-like factor, ephrin-A2, CD44, CDH2 and forconstitutive and regulated alpha-secretase cleavage of amyloidprecursor protein (APP) (PubMed:26686862, PubMed:11786905,PubMed:29224781). Contributes to the normal cleavage of thecellular prion protein (PubMed:11477090). Involved in the cleavageof the adhesion molecule L1 at the cell surface and in releasedmembrane vesicles, suggesting a vesicle-based protease activity(PubMed:12475894). Controls also the proteolytic processing ofNotch and mediates lateral inhibition during neurogenesis (Bysimilarity). Responsible for the FasL ectodomain shedding and forthe generation of the remnant ADAM10-processed FasL (FasL APL)transmembrane form (PubMed:17557115). Also cleaves the ectodomainof the integral membrane proteins CORIN and ITM2B(PubMed:19114711, PubMed:21288900). May regulate the EFNA5-EPHA3signaling (PubMed:16239146). {ECO:0000250|UniProtKB:O35598,ECO:0000269|PubMed:11477090, ECO:0000269|PubMed:11786905,ECO:0000269|PubMed:12475894, ECO:0000269|PubMed:16239146,ECO:0000269|PubMed:17557115, ECO:0000269|PubMed:19114711,ECO:0000269|PubMed:20592283, ECO:0000269|PubMed:21288900,ECO:0000269|PubMed:26686862, ECO:0000269|PubMed:29224781}. |
| 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 CYBB_ADAM10 |
| 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 CYBB_ADAM10 |
| 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 CYBB_ADAM10 |
| 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 | CYBB | P04839 | DB00514 | Dextromethorphan | Cytochrome b-245 heavy chain | small molecule | approved |
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RelatedDiseases for CYBB_ADAM10 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CYBB | C1844376 | Granulomatous Disease, Chronic, X-Linked | 20 | UNIPROT |
| Hgene | CYBB | C0018203 | Chronic granulomatous disease | 2 | CTD_human;ORPHANET |
| Hgene | CYBB | C0020538 | Hypertensive disease | 2 | CTD_human |
| Hgene | CYBB | C0011849 | Diabetes Mellitus | 1 | CTD_human |
| Hgene | CYBB | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Hgene | CYBB | C0018801 | Heart failure | 1 | CTD_human |
| Hgene | CYBB | C0022658 | Kidney Diseases | 1 | CTD_human |
| Hgene | CYBB | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| Hgene | CYBB | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | CYBB | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| Hgene | CYBB | C0033687 | Proteinuria | 1 | CTD_human |
| Hgene | CYBB | C0035126 | Reperfusion Injury | 1 | CTD_human |
| Hgene | CYBB | C0751955 | Brain Infarction | 1 | CTD_human |
| Hgene | CYBB | C1970859 | Atypical Mycobacteriosis, Familial, X-Linked 2 | 1 | ORPHANET;UNIPROT |
| Tgene | ADAM10 | C3810041 | ALZHEIMER DISEASE 18 | 2 | UNIPROT |
| Tgene | ADAM10 | C0406811 | Reticulate acropigmentation of Kitamura | 1 | ORPHANET;UNIPROT |
| Tgene | ADAM10 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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