{ "uniprot_canonical_ac": "A3KN83-1", "ptm_annotation": [], "sequence": { "header": "sp|A3KN83-1|SBNO1_HUMAN Isoform 1 of Protein strawberry notch homolog 1 OS=Homo sapiens OX=9606 GN=SBNO1 PE=1 SV=1 CANONICAL=A3KN83-1", "length": 1393, "sequence": "MVEPGQDLLLAALSESGISPNDLFDIDGGDAGLATPMPTPSVQQSVPLSALELGLETEAAVPVKQEPETVPTPALLNVRQQPPSTTTFVLNQINHLPPLGSTIVMTKTPPVTTNRQTITLTKFIQTTASTRPSVSAPTVRNAMTSAPSKDQVQLKDLLKNNSLNELMKLKPPANIAQPVATAATDVSNGTVKKESSNKEGARMWINDMKMRSFSPTMKVPVVKEDDEPEEEDEEEMGHAETYAEYMPIKLKIGLRHPDAVVETSSLSSVTPPDVWYKTSISEETIDNGWLSALQLEAITYAAQQHETFLPNGDRAGFLIGDGAGVGKGRTIAGIIYENYLLSRKRALWFSVSNDLKYDAERDLRDIGAKNILVHSLNKFKYGKISSKHNGSVKKGVIFATYSSLIGESQSGGKYKTRLKQLLHWCGDDFDGVIVFDECHKAKNLCPVGSSKPTKTGLAVLELQNKLPKARVVYASATGASEPRNMAYMNRLGIWGEGTPFREFSDFIQAVERRGVGAMEIVAMDMKLRGMYIARQLSFTGVTFKIEEVLLSQSYVKMYNKAVKLWVIARERFQQAADLIDAEQRMKKSMWGQFWSAHQRFFKYLCIASKVKRVVQLAREEIKNGKCVVIGLQSTGEARTLEALEEGGGELNDFVSTAKGVLQSLIEKHFPAPDRKKLYSLLGIDLTAPSNNSSPRDSPCKENKIKKRKGEEITREAKKARKVGGLTGSSSDDSGSESDASDNEESDYESSKNMSSGDDDDFNPFLDESNEDDENDPWLIRKDHKKNKEKKKKKSIDPDSIQSALLASGLGSKRPSFSSTPVISPAPNSTPANSNTNSNSSLITSQDAVERAQQMKKDLLDKLEKLAEDLPPNTLDELIDELGGPENVAEMTGRKGRVVSNDDGSISYESRSELDVPVEILNITEKQRFMDGDKNIAIISEAASSGISLQADRRAKNQRRRVHMTLELPWSADRAIQQFGRTHRSNQVTAPEYVFLISELAGEQRFASIVAKRLESLGALTHGDRRATESRDLSRFNFDNKYGRNALEIVMKSIVNLDSPMVSPPPDYPGEFFKDVRQGLIGVGLINVEDRSGILTLDKDYNNIGKFLNRILGMEVHQQNALFQYFADTLTAVVQNAKKNGRYDMGILDLGSGDEKVRKSDVKKFLTPGYSTSGHVELYTISVERGMSWEEATKIWAELTGPDDGFYLSLQIRNNKKTAILVKEVNPKKKLFLVYRPNTGKQLKLEIYADLKKKYKKVVSDDALMHWLDQYNSSADTCTHAYWRGNCKKASLGLVCEIGLRCRTYYVLCGSVLSVWTKVEGVLASVSGTNVKMQIVRLRTEDGQRIVGLIIPANCVSPLVNLLSTSDQSQQLAVQQKQLWQQHHPQSITNLSNA" }, "uniprot_id": "", "glycation": [], "keywords": [ "glycoprotein", "reported_with_glycan.oglcnac_db", "reported_with_glycan.glygen_ds", "reported_with_glycan.glyconnect" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83", "id": "A3KN83", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16533400", "type": "PubMed", "id": "16533400" } ], "title": "NovelFam3000 -- uncharacterized human protein domains conserved across model organisms.", "journal": "BMC Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83", "id": "A3KN83", "database": "UniProtKB" } ], "authors": "Hoeoeg C., Lim J., Roth P., Arenillas D., Hodges E., Kemmer D., Podowski R.M., Sonnhammer E.L.L., Wasserman W.W.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16959974", "type": "PubMed", "id": "16959974" } ], "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83", "id": "A3KN83", "database": "UniProtKB" } ], "authors": "Bachman K.E., Barber T.D., Buckhaults P., Dawson D., Farrell C., Gazdar A.F., Hartigan J., Jones S., Kinzler K.W., Leary R.J., Lin J., Liu C., Mandelker D., Markowitz S.D., Meeh P., Papadopoulos N., Park B.H., Parmigiani G., Parsons D.W., Ptak J., Silliman N., Sjoeblom T., Szabo S., Velculescu V.E., Vogelstein B., Willis J., Willson J.K.V., Wood L.D., Wu L.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17081983", "type": "PubMed", "id": "17081983" } ], "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83", "id": "A3KN83", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A3KN83", "id": "A3KN83", "database": "iPTMnet" } ], "authors": "Blagoev B., Gnad F., Kumar C., Macek B., Mann M., Mortensen P., Olsen J.V.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "type": "PubMed", "id": "18669648" } ], "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A3KN83", "id": "A3KN83", "database": "iPTMnet" } ], "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19608861", "type": "PubMed", "id": "19608861" } ], "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83", "id": "A3KN83", "database": "UniProtKB" } ], "authors": "Choudhary C., Gnad F., Kumar C., Mann M., Nielsen M.L., Olsen J.V., Rehman M., Walther T.C.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068230", "type": "PubMed", "id": "20068230" } ], "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" }, { "url": "https://glyconnect.expasy.org/browser/proteins/2874", "id": "2874", "database": "GlyConnect" } ], "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "type": "PubMed", "id": "20068231" } ], "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A3KN83", "id": "A3KN83", "database": "iPTMnet" } ], "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22449796", "type": "PubMed", "id": "22449796" } ], "title": "Notch signaling pathway and Cdx2 expression in the development of Barrett's esophagus.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161328.1", "id": "NP_001161328.1", "database": "RefSeq" } ], "authors": "Tamagawa Y, Ishimura N, Uno G, Yuki T, Kazumori H, Ishihara S, Amano Y, Kinoshita Y", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22504419", "type": "PubMed", "id": "22504419" } ], "title": "Common variants at 12q15 and 12q24 are associated with infant head circumference.", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161328.1", "id": "NP_001161328.1", "database": "RefSeq" } ], "authors": "Taal HR, Pourcain BS, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Moller E, Bradfield JP, Freathy RM, Geller F, Guxens M, Cousminer DL, Kerkhof M, Timpson NJ, Ikram MA, Beilin LJ, Bonnelykke K, Buxton JL, Charoen P, Chawes BLK, Eriksson J, Evans DM, Hofman A, Kemp JP, Kim CE, Klopp N, Lahti J, Lye SJ, McMahon G, Mentch FD, Muller M, O'Reilly PF, Prokopenko I, Rivadeneira F, Steegers EAP, Sunyer J, Tiesler C, Yaghootkar H, Breteler MMB, Debette S, Fornage M, Gudnason V, Launer LJ, van der Lugt A, Mosley TH, Seshadri S, Smith AV, Vernooij MW, Blakemore AI, Chiavacci RM, Feenstra B, Fernandez-Benet J, Grant SFA, Hartikainen AL, van der Heijden AJ, Iniguez C, Lathrop M, McArdle WL, Molgaard A, Newnham JP, Palmer LJ, Palotie A, Pouta A, Ring SM, Sovio U, Standl M, Uitterlinden AG, Wichmann HE, Vissing NH, DeCarli C, van Duijn CM, McCarthy MI, Koppelman GH, Estivill X, Hattersley AT, Melbye M, Bisgaard H, Pennell CE, Widen E, Hakonarson H, Smith GD, Heinrich J, Jarvelin MR, Jaddoe VWV", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27655845", "type": "PubMed", "id": "27655845" } ], "title": "Global Analysis of O-GlcNAc Glycoproteins in Activated Human T Cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Lund PJ, Elias JE, Davis MM", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28657654", "type": "PubMed", "id": "28657654" } ], "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29237092", "type": "PubMed", "id": "29237092" } ], "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29351928", "type": "PubMed", "id": "29351928" } ], "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" }, { "url": "https://data.glygen.org/GLYDS000142", "id": "GLYDS000142", "database": "GlyGen" } ], "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30059200", "type": "PubMed", "id": "30059200" } ], "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/32119511", "type": "PubMed", "id": "32119511" } ], "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "date": "2020" } ], "uniprot_ac": "A3KN83", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A3KN83", "type": "synonym", "resource": "RefSeq", "name": "MOP3; Sno" }, { "url": "https://www.uniprot.org/uniprot/A3KN83", "type": "synonym", "resource": "UniProtKB", "name": "MOP3" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A3KN83", "type": "synonym", "resource": "RefSeq", "name": "SBNO1" }, { "url": "https://www.uniprot.org/uniprot/A3KN83", "type": "recommended", "resource": "UniProtKB", "name": "SBNO1" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A3KN83#A3KN83-1", "isoform_ac": "A3KN83-1", "locus": { "end_pos": 123295911, "strand": "+", "start_pos": 123350441, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000602398", "id": "ENST00000602398", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000473665", "id": "ENSP00000473665", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A3KN83-1|SBNO1_HUMAN Isoform 1 of Protein strawberry notch homolog 1 OS=Homo sapiens OX=9606 GN=SBNO1 PE=1 SV=1 CANONICAL=A3KN83-1", "length": 1393, "sequence": "MVEPGQDLLLAALSESGISPNDLFDIDGGDAGLATPMPTPSVQQSVPLSALELGLETEAAVPVKQEPETVPTPALLNVRQQPPSTTTFVLNQINHLPPLGSTIVMTKTPPVTTNRQTITLTKFIQTTASTRPSVSAPTVRNAMTSAPSKDQVQLKDLLKNNSLNELMKLKPPANIAQPVATAATDVSNGTVKKESSNKEGARMWINDMKMRSFSPTMKVPVVKEDDEPEEEDEEEMGHAETYAEYMPIKLKIGLRHPDAVVETSSLSSVTPPDVWYKTSISEETIDNGWLSALQLEAITYAAQQHETFLPNGDRAGFLIGDGAGVGKGRTIAGIIYENYLLSRKRALWFSVSNDLKYDAERDLRDIGAKNILVHSLNKFKYGKISSKHNGSVKKGVIFATYSSLIGESQSGGKYKTRLKQLLHWCGDDFDGVIVFDECHKAKNLCPVGSSKPTKTGLAVLELQNKLPKARVVYASATGASEPRNMAYMNRLGIWGEGTPFREFSDFIQAVERRGVGAMEIVAMDMKLRGMYIARQLSFTGVTFKIEEVLLSQSYVKMYNKAVKLWVIARERFQQAADLIDAEQRMKKSMWGQFWSAHQRFFKYLCIASKVKRVVQLAREEIKNGKCVVIGLQSTGEARTLEALEEGGGELNDFVSTAKGVLQSLIEKHFPAPDRKKLYSLLGIDLTAPSNNSSPRDSPCKENKIKKRKGEEITREAKKARKVGGLTGSSSDDSGSESDASDNEESDYESSKNMSSGDDDDFNPFLDESNEDDENDPWLIRKDHKKNKEKKKKKSIDPDSIQSALLASGLGSKRPSFSSTPVISPAPNSTPANSNTNSNSSLITSQDAVERAQQMKKDLLDKLEKLAEDLPPNTLDELIDELGGPENVAEMTGRKGRVVSNDDGSISYESRSELDVPVEILNITEKQRFMDGDKNIAIISEAASSGISLQADRRAKNQRRRVHMTLELPWSADRAIQQFGRTHRSNQVTAPEYVFLISELAGEQRFASIVAKRLESLGALTHGDRRATESRDLSRFNFDNKYGRNALEIVMKSIVNLDSPMVSPPPDYPGEFFKDVRQGLIGVGLINVEDRSGILTLDKDYNNIGKFLNRILGMEVHQQNALFQYFADTLTAVVQNAKKNGRYDMGILDLGSGDEKVRKSDVKKFLTPGYSTSGHVELYTISVERGMSWEEATKIWAELTGPDDGFYLSLQIRNNKKTAILVKEVNPKKKLFLVYRPNTGKQLKLEIYADLKKKYKKVVSDDALMHWLDQYNSSADTCTHAYWRGNCKKASLGLVCEIGLRCRTYYVLCGSVLSVWTKVEGVLASVSGTNVKMQIVRLRTEDGQRIVGLIIPANCVSPLVNLLSTSDQSQQLAVQQKQLWQQHHPQSITNLSNA" } }, { "url": "https://www.uniprot.org/uniprot/A3KN83#A3KN83-2", "isoform_ac": "A3KN83-2", "locus": { "end_pos": 123295911, "strand": "+", "start_pos": 123350441, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000267176", "id": "ENST00000267176", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000267176", "id": "ENSP00000267176", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A3KN83-2|SBNO1_HUMAN Isoform 2 of Protein strawberry notch homolog 1 OS=Homo sapiens OX=9606 GN=SBNO1 PE=1 SV=1 CANONICAL=A3KN83-1", "length": 1392, "sequence": "MVEPGQDLLLAALSESGISPNDLFDIDGGDAGLATPMPTPSVQQSVPLSALELGLETEAAVPVKQEPETVPTPALLNVRQPPSTTTFVLNQINHLPPLGSTIVMTKTPPVTTNRQTITLTKFIQTTASTRPSVSAPTVRNAMTSAPSKDQVQLKDLLKNNSLNELMKLKPPANIAQPVATAATDVSNGTVKKESSNKEGARMWINDMKMRSFSPTMKVPVVKEDDEPEEEDEEEMGHAETYAEYMPIKLKIGLRHPDAVVETSSLSSVTPPDVWYKTSISEETIDNGWLSALQLEAITYAAQQHETFLPNGDRAGFLIGDGAGVGKGRTIAGIIYENYLLSRKRALWFSVSNDLKYDAERDLRDIGAKNILVHSLNKFKYGKISSKHNGSVKKGVIFATYSSLIGESQSGGKYKTRLKQLLHWCGDDFDGVIVFDECHKAKNLCPVGSSKPTKTGLAVLELQNKLPKARVVYASATGASEPRNMAYMNRLGIWGEGTPFREFSDFIQAVERRGVGAMEIVAMDMKLRGMYIARQLSFTGVTFKIEEVLLSQSYVKMYNKAVKLWVIARERFQQAADLIDAEQRMKKSMWGQFWSAHQRFFKYLCIASKVKRVVQLAREEIKNGKCVVIGLQSTGEARTLEALEEGGGELNDFVSTAKGVLQSLIEKHFPAPDRKKLYSLLGIDLTAPSNNSSPRDSPCKENKIKKRKGEEITREAKKARKVGGLTGSSSDDSGSESDASDNEESDYESSKNMSSGDDDDFNPFLDESNEDDENDPWLIRKDHKKNKEKKKKKSIDPDSIQSALLASGLGSKRPSFSSTPVISPAPNSTPANSNTNSNSSLITSQDAVERAQQMKKDLLDKLEKLAEDLPPNTLDELIDELGGPENVAEMTGRKGRVVSNDDGSISYESRSELDVPVEILNITEKQRFMDGDKNIAIISEAASSGISLQADRRAKNQRRRVHMTLELPWSADRAIQQFGRTHRSNQVTAPEYVFLISELAGEQRFASIVAKRLESLGALTHGDRRATESRDLSRFNFDNKYGRNALEIVMKSIVNLDSPMVSPPPDYPGEFFKDVRQGLIGVGLINVEDRSGILTLDKDYNNIGKFLNRILGMEVHQQNALFQYFADTLTAVVQNAKKNGRYDMGILDLGSGDEKVRKSDVKKFLTPGYSTSGHVELYTISVERGMSWEEATKIWAELTGPDDGFYLSLQIRNNKKTAILVKEVNPKKKLFLVYRPNTGKQLKLEIYADLKKKYKKVVSDDALMHWLDQYNSSADTCTHAYWRGNCKKASLGLVCEIGLRCRTYYVLCGSVLSVWTKVEGVLASVSGTNVKMQIVRLRTEDGQRIVGLIIPANCVSPLVNLLSTSDQSQQLAVQQKQLWQQHHPQSITNLSNA" } }, { "url": "https://www.uniprot.org/uniprot/A3KN83#A3KN83-3", "isoform_ac": "A3KN83-3", "locus": {}, "sequence": { "header": "sp|A3KN83-3|SBNO1_HUMAN Isoform 3 of Protein strawberry notch homolog 1 OS=Homo sapiens OX=9606 GN=SBNO1 PE=1 SV=1 CANONICAL=A3KN83-1", "length": 1391, "sequence": "MVEPGQDLLLAALSESGISPNDLFDIDGGDAGLATPMPTPSVQQSVPLSALELGLETEAAVPVKQEPETVPTPALLNQQPPSTTTFVLNQINHLPPLGSTIVMTKTPPVTTNRQTITLTKFIQTTASTRPSVSAPTVRNAMTSAPSKDQVQLKDLLKNNSLNELMKLKPPANIAQPVATAATDVSNGTVKKESSNKEGARMWINDMKMRSFSPTMKVPVVKEDDEPEEEDEEEMGHAETYAEYMPIKLKIGLRHPDAVVETSSLSSVTPPDVWYKTSISEETIDNGWLSALQLEAITYAAQQHETFLPNGDRAGFLIGDGAGVGKGRTIAGIIYENYLLSRKRALWFSVSNDLKYDAERDLRDIGAKNILVHSLNKFKYGKISSKHNGSVKKGVIFATYSSLIGESQSGGKYKTRLKQLLHWCGDDFDGVIVFDECHKAKNLCPVGSSKPTKTGLAVLELQNKLPKARVVYASATGASEPRNMAYMNRLGIWGEGTPFREFSDFIQAVERRGVGAMEIVAMDMKLRGMYIARQLSFTGVTFKIEEVLLSQSYVKMYNKAVKLWVIARERFQQAADLIDAEQRMKKSMWGQFWSAHQRFFKYLCIASKVKRVVQLAREEIKNGKCVVIGLQSTGEARTLEALEEGGGELNDFVSTAKGVLQSLIEKHFPAPDRKKLYSLLGIDLTAPSNNSSPRDSPCKENKIKKRKGEEITREAKKARKVGGLTGSSSDDSGSESDASDNEESDYESSKNMSSGDDDDFNPFLDESNEDDENDPWLIRKDHKKNKEKKKKKSIDPDSIQSALLASGLGSKRPSFSSTPVISPAPNSTPANSNTNSNSSLITSQDAVERAQQMKKDLLDKLEKLAEDLPPNTLDELIDELGGPENVAEMTGRKGRVVSNDDGSISYESRSELDVPVEILNITEKQRFMDGDKNIAIISEAASSGISLQADRRAKNQRRRVHMTLELPWSADRAIQQFGRTHRSNQVTAPEYVFLISELAGEQRFASIVAKRLESLGALTHGDRRATESRDLSRFNFDNKYGRNALEIVMKSIVNLDSPMVSPPPDYPGEFFKDVRQGLIGVGLINVEDRSGILTLDKDYNNIGKFLNRILGMEVHQQNALFQYFADTLTAVVQNAKKNGRYDMGILDLGSGDEKVRKSDVKKFLTPGYSTSGHVELYTISVERGMSWEEATKIWAELTGPDDGFYLSLQIRNNKKTAILVKEVNPKKKLFLVYRPNTGKQLKLEIYADLKKKYKKVVSDDALMHWLDQYNSSADTCTHAYWRGNCKKASLGLVCEIGLRCRTYYVLCGSVLSVWTKVEGVLASVSGTNVKMQIVRLRTEDGQRIVGLIIPANCVSPLVNLLSTSDQSQQLAVQQKQLWQQHHPQSITNLSNA" } }, { "url": "https://www.uniprot.org/uniprot/A3KN83#A3KN83-4", "isoform_ac": "A3KN83-4", "locus": {}, "sequence": { "header": "sp|A3KN83-4|SBNO1_HUMAN Isoform 4 of Protein strawberry notch homolog 1 OS=Homo sapiens OX=9606 GN=SBNO1 PE=1 SV=1 CANONICAL=A3KN83-1", "length": 732, "sequence": "MVEPGQDLLLAALSESGISPNDLFDIDGGDAGLATPMPTPSVQQSVPLSALELGLETEAAVPVKQEPETVPTPALLNVRQPPSTTTFVLNQINHLPPLGSTIVMTKTPPVTTNRQTITLTKFIQTTASTRPSVSAPTVRNAMTSAPSKDQVQLKDLLKNNSLNELMKLKPPANIAQPVATAATDVSNGTVKKESSNKEGARMWINDMKMRSFSPTMKVPVVKEDDEPEEEDEEEMGHAETYAEYMPIKLKIGLRHPDAVVETSSLSSVTPPDVWYKTSISEETIDNGWLSALQLEAITYAAQQHETFLPNGDRAGFLIGDGAGVGKGRTIAGIIYENYLLSRKRALWFSVSNDLKYDAERDLRDIGAKNILVHSLNKFKYGKISSKHNGSVKKGVIFATYSSLIGESQSGGKYKTRLKQLLHWCGDDFDGVIVFDECHKAKNLCPVGSSKPTKTGLAVLELQNKLPKARVVYASATGASEPRNMAYMNRLGIWGEGTPFREFSDFIQAVERRGVGAMEIVAMDMKLRGMYIARQLSFTGVTFKIEEVLLSQSYVKMYNKAVKLWVIARERFQQAADLIDAEQRMKKSMWGQFWSAHQRFFKYLCIASKVKRVVQLAREEIKNGKCVVIGLQSTGEARTLEALEEGGGELNDFVSTAKGVLQSLIEKHFPAPDRKKLYSLLGIDLTAPSNNSSPRDSPCKENKIKKRKGEEITREAKKARKMSLMRMMKMIPG" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55206", "resource": "KEGG Pathway", "id": "hsa:55206", "name": "" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161328.1", "annotation": "Enhanced expression of Cdx2 by stimulation with bile acids may induce intestinal differentiation of esophageal columnar cells by interaction with the Notch signaling pathway.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161328.1", "id": "NP_001161328.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q5BJL5-1", "protein_name": "Protein strawberry notch homolog 1", "sequence": { "length": 1269, "sequence": "MVEPGQDLLLAALSESGISPNDLFDVDGGDAGLATPTPPSVQQQQPPSTTTFVLNQINQLPTLGSTIVMTKTPPATTNRQTITLTKFIQTTANTRPSVSAPAVRNAIPPAPAKDQVQLKDLLKNNSLNELMKLKPPANIAQPVATAAADVSNGAVKKESSNKEVARVWINDMKMRSFSPTMKVPVVREEDEPEEEDEEEMGHAETYAEYMPIKLKIGLRHPDAVVETSSLSSVTPPDVWYKTSISEETIDNGWLSALQLEAVTYAAQQHETFLPNGDRAGFLIGDGAGVGKGRTIAGIIYENYLLSRKRALWFSVSNDLKYDAERDLRDIGAKNILVHSLNKFKYGKISSKHNGSVKKGVIFATYSSLIGESQSGGKYKTRLKQLLHWCGDDFDGVIVFDECHKAKNLCPVGSSKPTKTGLAVLELQNKLPKARVVYASATGASEPRNMAYMNRLGIWGEGTPFREFSDFIQAVERRGVGAMEIVAMDMKLRGMYIARQLSFTGVTFKIEEVLLSQSYVKMYNKAVKLWVIARERFQQAADLIDAEQRMKKSMWGQFWSAHQRFFKYLCIASKVKRVVQLAREEIKNGKCVVIGLQSTGEARTLEALEEGGGELNDFVSTAKGVLQSLIEKHFPAPDRKKLYSLLGIDLTAPSNNSSPRDSAKKARKIGGLTGSSSDDSGSESDVSDNEESDYESSKNMSSGDDDDFNPFRDDNSSLITSQDAVERAQQMKKDLLDKLEKLAEDLPPNTLDELIDELGGPENVAEMTGRKGRVVSNDDGSISYESRSELDVPVEILNITEKQRFMDGDKNIAIISEAASSGISLQADRRAKNQRRRVHMTLELPWSADRAIQQFGRTHRSNQVTAPEYVFLISELAGEQRFASIVAKRLESLGALTHGDRRATESRDLSRFNFDNKYGRNALEIVMKSIVNLDSPMVSPPPDYPGEFFKDVRQGLIGVGLINVEDRSGILTLDKDYNNIGKFLNRILGMEVHQQNALFQYFADTLTAVVQNAKKNGRYDMGILDLGSGDEKVRKSDVKKFLTPGYSTSGHVELYTISVERGMSWDEATKIWAELTGPDDGFYLSLQIRNNKKTAILVKEVNPKKKLFLIYRPNTGKQLKLEIYADLKKKYKKVVSDDALVHWLDQYNSSADTCTHAYWRGNCKKASLGLVCEIGLRCRTYYVLCGSVLSVWTKVEGVLASVSGTNVKMQIVRLRTEDGQRIVGLIIPANCVSPLVNLLSTSDQSQQLAVQQKQLWQQHHPQSITNLSNV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/10055", "id": "10055", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Sbno1", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q689Z5-1", "protein_name": "Protein strawberry notch homolog 1", "sequence": { "length": 1390, "sequence": "MVEPGQDLLLAALSESGISPNDLFDVDGGDAGLATPTPPSVQQSVPLSALELGLETEAAVPVKQEPEPMSTPALLNVRQPPSTTTFVLNQINQLPTLGSTIVMTKTPPATTNRQTITLTKFIQTTANTRPSVSAPAVRNAMPAAPSKDQVQLKDLLKNNSLNELMKLKPPANIAQPVATAATDVSNGAVKKESSNKEVARIWINDMKMRSFSPTMKVPVVKEEDEPEEEDEEEMGHAETYAEYMPIKLKIGLRHPDAVVETSSLSSVTPPDVWYKTSISEETIDNGWLSALQLEAVTYAAQQHETFLPNGDRAGFLIGDGAGVGKGRTIAGIIYENYLLSRKRALWFSVSNDLKYDAERDLRDIGAKNILVHSLNKFKYGKISSKHNGSVKKGVIFATYSSLIGESQSGGKYKTRLKQLLHWCGDDFDGVIVFDECHKAKNLCPVGSSKPTKTGLAVLELQNKLPKARVVYASATGASEPRNMAYMNRLGIWGEGTPFREFSDFIQAVERRGVGAMEIVAMDMKLRGMYIARQLSFTGVTFKIEEVLLSQSYVKMYNKAVKLWVIARERFQQAADLIDAEQRMKKSMWGQFWSAHQRFFKYLCIASKVKRVVQLAREEIKNGKCVVIGLQSTGEARTLEALEEGGGELNDFVSTAKGVLQSLIEKHFPAPDRKKLYSLLGIDLTAPSNNSSPRDSPCKENKIKKRKGEEITREAKKARKVGGLTGSSSDDSGSESVSDNDESDYESSKNMSSGDDDDFNPFRDESSEDNEDDPWLIRKDHKKSKDKKKKKSIDPDSIQSALLASGLGSKRPSFSSAPVISPASNSAPANSNSNSNSSLVTSQDAVERAQQMKKDLLDKLEKLAEDLPPNTLDELIDELGGPENVAEMTGRKGRVVSNDDGSISYESRSELDVPVEILNITEKQRFMDGDKNIAIISEAASSGISLQADRRAKNQRRRVHMTLELPWSADRAIQQFGRTHRSNQVTAPEYVFLISELAGEQRFASIVAKRLEGLGALTHGDRRATESRDLSRFNFDNKYGRNALEIVMKSIVNLDSPMVSPPPDYPGEFFKDVRQGLIGVGLINVEDRSGILTLDKDYNNIGKFLNRILGMEVHQQNALFQYFADTLTAVVQNAKKSGRYDMGILDLGSGDEKVRKSDVKKFLTPGYSTSGHVELYTISVERGMSWEEATKIWAELTGPDDGFYLSLQIRNNKKTAILVKEVNPKKKLFLIYRPNTGKQLKLEIYADLKKKYKKVVSDDALVHWLDQYNSSADTCTHAYWRGNCKKASLGLVCEIGLRCRTYYVLCGSVLSVWTKVEGVLASVSGTNVKMQIVRLRTEDGQRIVGLIIPANCVSPLVNLLSTSDQSQQLAVQQKQLWQQHHPQSITNLSNL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/10055", "id": "10055", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Sbno1", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DLS->NLS).", "sequence_org": "D", "start_pos": 1031, "alt_nt": "T", "chr_id": "12", "subjects_positive": "1", "chr_pos": "123799949", "disease": [ { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "frequency": "0.2", "sequence_mut": "N", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1031, "minor_allelic_frequency": "", "ref_nt": "C" }, { "sequence_org": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TKT->NKT).", "alt_nt": "null", "chr_id": "12", "ref_nt": "T", "chr_pos": "123345491G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555251255", "id": "rs1555251255", "database": "dbSNP" }, { "url": "https://www.ensembl.org/id/rs1555251255", "id": "rs1555251255", "database": "ENSEMBL" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 106, "keywords": [ "ebi", "germline" ], "end_pos": 106, "minor_allelic_frequency": "" }, { "sequence_org": "T", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "alt_nt": "null", "chr_id": "12", "ref_nt": "A", "chr_pos": "123345485G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs912390245", "id": "rs912390245", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs912390245#frequency_tab", "id": "rs912390245", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs912390245", "id": "rs912390245", "database": "gnomAD" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_mut": "I", "start_pos": 108, "keywords": [ "ebi", "germline" ], "end_pos": 108, "minor_allelic_frequency": "" }, { "sequence_org": "T", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->K).", "alt_nt": "null", "chr_id": "12", "ref_nt": "T", "chr_pos": "123345485G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs912390245", "id": "rs912390245", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs912390245#frequency_tab", "id": "rs912390245", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs912390245", "id": "rs912390245", "database": "gnomAD" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_mut": "K", "start_pos": 108, "keywords": [ "ebi", "germline" ], "end_pos": 108, "minor_allelic_frequency": "" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs546657066.", "sequence_org": "R", "start_pos": 1090, "alt_nt": "A", "chr_id": "12", "subjects_positive": "1", "chr_pos": "123795629", "disease": [ { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } }, { "disease_id": "DOID:4159", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "CA - skin cancer", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of skin", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "melanoma and Non-melanoma skin cancer", "id": "DOID:4159" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "name": "skin cancer", "id": "DOID:4159" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "C", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1090, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "sequence_org": "Q", "start_pos": 1134, "alt_nt": "A", "chr_id": "12", "subjects_positive": "1", "chr_pos": "123794299", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "name": "head and neck cancer", "id": "DOID:11934" } }, { "disease_id": "DOID:1319", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult malignant brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "BT - Brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm, adult", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "tumor of the Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of adult brain", "id": "DOID:1319" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "name": "brain cancer", "id": "DOID:1319" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "D", "subjects_tested": "412", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1327, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "sequence_org": "R", "start_pos": 1336, "alt_nt": "A", "chr_id": "12", "subjects_positive": "1", "chr_pos": "123782558", "disease": [ { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } }, { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } }, { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } }, { "disease_id": "DOID:10534", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric neoplasm", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric cancer", "id": "DOID:10534" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the stomach.", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "ca greater curvature of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca lesser curvature - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant stomach neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "stomach cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of body of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "cancer of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric tumor", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of greater curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca body - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer, intestinal", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of body of stomach", "id": "MONDO:0001056" }, { "url": "https://www.omim.org/entry/613659", "resource": "MIM", "description": "Gastric cancer", "name": "Gastric cancer", "id": "MIM:613659" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the stomach.", "name": "stomach cancer", "id": "DOID:10534" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "W", "subjects_tested": "456", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1336, "minor_allelic_frequency": "", "ref_nt": "G" }, { "sequence_org": "S", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "alt_nt": "null", "chr_id": "12", "ref_nt": "G", "chr_pos": "123345411A>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474572413", "id": "rs1474572413", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1474572413", "id": "rs1474572413", "database": "gnomAD" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_mut": "P", "start_pos": 133, "keywords": [ "ebi", "germline" ], "end_pos": 133, "minor_allelic_frequency": "" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (6). In dbSNP: rs868122189.", "sequence_org": "A", "start_pos": 1372, "alt_nt": "A", "chr_id": "12", "subjects_positive": "2", "chr_pos": "123780522", "disease": [ { "disease_id": "DOID:1319", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult malignant brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "BT - Brain tumour", "id": "DOID:1319" }, { 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"http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "description": "", "name": "renal cancer", "id": "DOID:263" }, { "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of kidney", "id": "DOID:263" }, { "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of kidney except pelvis", "id": "DOID:263" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "description": "A urinary system cancer that is located_in the kidney.", "name": "kidney cancer", "id": "DOID:263" } }, { "disease_id": "DOID:1793", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "description": "", "name": "pancreatic neoplasm", "id": "DOID:1793" }, { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", 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