{ "uniprot_canonical_ac": "A3KN83-1", "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": "SBNO1_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "protein strawberry notch homolog 1 isoform 1", "protein strawberry notch homolog 1; monocyte protein 3" ], "uniprotkb": [ "Protein strawberry notch homolog 1", "Monocyte protein 3", "MOP-3" ] }, "gene": { "refseq": [ "SBNO1", "MOP3", "Sno" ], "uniprotkb": [ "SBNO1", "MOP3", "Sno" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83", "id": "A3KN83", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Protein strawberry notch homolog 1; Monocyte protein 3; MOP-3." }, "publication": [ { "title": "Notch signaling pathway and Cdx2 expression in the development of Barrett's esophagus.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22449796", "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", "pmid": "22449796" }, { "title": "Common variants at 12q15 and 12q24 are associated with infant head circumference.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22504419", "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", "pmid": "22504419" }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19608861", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83/publications", "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", "pmid": "19608861" }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16959974", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83/publications", "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", "pmid": "16959974" }, { "title": "NovelFam3000 -- uncharacterized human protein domains conserved across model organisms.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16533400", "journal": "BMC Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83/publications", "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", "pmid": "16533400" }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17081983", "journal": "Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83/publications", "id": "A3KN83", "database": "UniProtKB" } ], "authors": "Blagoev B., Gnad F., Kumar C., Macek B., Mann M., Mortensen P., Olsen J.V.", "date": "2006", "pmid": "17081983" } ], "glycosylation": [ { "residue": "Thr", "evidence": [ { "url": "https://data.glygen.org/GLYDS000142", "id": "GLYDS000142", "database": "GlyGen" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29351928", "id": "29351928", "database": "PubMed" } ], "relation": "attached", "position": 130, "glytoucan_ac": "G70994MS", "type": "O-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://data.glygen.org/GLYDS000142", "id": "GLYDS000142", "database": "GlyGen" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29351928", "id": "29351928", "database": "PubMed" } ], "relation": "attached", "position": 126, "glytoucan_ac": "G70994MS", "type": "O-linked" } ], "mutation": [ { "start_pos": 1372, "subjects_positive": "9", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "2.3", "annotation": "Filters passed (2/5): patient freq. (2.3%); num. of cancers (6). In dbSNP: rs868122189.", "sequence_org": "A", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "icd10": "", "name": "Pancreatic cancer" }, "sequence_mut": "V", "subjects_tested": "399", "end_pos": 1372, "type": "Point mutation" }, { "start_pos": 1234, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Y", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "N", "subjects_tested": "50", "end_pos": 1234, "type": "Point mutation" }, { "start_pos": 1390, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "L", "disease": { "doid": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "icd10": "", "name": "Head and neck cancer" }, "sequence_mut": "F", "subjects_tested": "980", "end_pos": 1390, "type": "Point mutation" }, { "start_pos": 788, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "E", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 788, "type": "Point mutation" }, { "start_pos": 813, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "R", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "Q", "subjects_tested": "50", "end_pos": 813, "type": "Point mutation" }, { "start_pos": 1090, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs546657066.", "sequence_org": "R", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "C", "subjects_tested": "558", "end_pos": 1090, "type": "Point mutation" }, { "start_pos": 1372, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (6). In dbSNP: rs868122189.", "sequence_org": "A", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "V", "subjects_tested": "1720", "end_pos": 1372, "type": "Point mutation" }, { "start_pos": 1336, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (4).", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "W", "subjects_tested": "456", "end_pos": 1336, "type": "Point mutation" }, { "start_pos": 1336, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (4).", "sequence_org": "R", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "W", "subjects_tested": "558", "end_pos": 1336, "type": "Point mutation" }, { "start_pos": 1090, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.4", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs546657066.", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "C", "subjects_tested": "254", "end_pos": 1090, "type": "Point mutation" }, { "start_pos": 1327, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "G", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "Liver cancer" }, "sequence_mut": "D", "subjects_tested": "412", "end_pos": 1327, "type": "Point mutation" }, { "start_pos": 1336, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (4).", "sequence_org": "R", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "W", "subjects_tested": "1514", "end_pos": 1336, "type": "Point mutation" }, { "start_pos": 1090, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs546657066.", "sequence_org": "R", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "icd10": "", "name": "Skin cancer" }, "sequence_mut": "C", "subjects_tested": "820", "end_pos": 1090, "type": "Point mutation" }, { "start_pos": 806, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 806, "type": "Point mutation" }, { "start_pos": 1390, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.4", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "L", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "sequence_mut": "F", "subjects_tested": "228", "end_pos": 1390, "type": "Point mutation" }, { "start_pos": 1372, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (6). In dbSNP: rs868122189.", "sequence_org": "A", "disease": { "doid": "263", "url": "http://disease-ontology.org/term/DOID:263", "icd10": "", "name": "Kidney cancer" }, "sequence_mut": "V", "subjects_tested": "655", "end_pos": 1372, "type": "Point mutation" }, { "start_pos": 1327, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "G", "disease": { "doid": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "icd10": "", "name": "Head and neck cancer" }, "sequence_mut": "D", "subjects_tested": "980", "end_pos": 1327, "type": "Point mutation" }, { "start_pos": 1372, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (6). In dbSNP: rs868122189.", "sequence_org": "A", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "V", "subjects_tested": "2203", "end_pos": 1372, "type": "Point mutation" }, { "start_pos": 1336, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (4).", "sequence_org": "R", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "icd10": "", "name": "Stomach cancer" }, "sequence_mut": "W", "subjects_tested": "1044", "end_pos": 1336, "type": "Point mutation" }, { "start_pos": 1390, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.5", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "L", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "F", "subjects_tested": "194", "end_pos": 1390, "type": "Point mutation" }, { "start_pos": 1372, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.7", "annotation": "Filters passed (1/5): num. of cancers (6). In dbSNP: rs868122189.", "sequence_org": "A", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "icd10": "", "name": "Hematologic cancer" }, "sequence_mut": "V", "subjects_tested": "150", "end_pos": 1372, "type": "Point mutation" }, { "start_pos": 1327, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "G", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "D", "subjects_tested": "678", "end_pos": 1327, "type": "Point mutation" }, { "start_pos": 1134, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "Q", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "*", "subjects_tested": "103", "end_pos": 1134, "type": "Point mutation" }, { "start_pos": 1372, "subjects_positive": "4", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "0.4", "annotation": "Filters passed (1/5): num. of cancers (6). In dbSNP: rs868122189.", "sequence_org": "A", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "Prostate cancer" }, "sequence_mut": "V", "subjects_tested": "1118", "end_pos": 1372, "type": "Point mutation" }, { "start_pos": 1212, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KN83", "id": "A3KN83", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "R", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "M", "subjects_tested": "50", "end_pos": 1212, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A3KN83#A3KN83-1", "isoform_ac": "A3KN83-1", "locus": { "end_pos": 123295911, "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, "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": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "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": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "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/www_bget?hsa:55206", "resource": "KEGG Pathway", "id": "hsa:55206", "name": "" } ], "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": [], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161328.1", "ac": "NP_001161328.1", "name": "protein strawberry notch homolog 1 isoform 1; protein strawberry notch homolog 1; monocyte protein 3.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83", "id": "A3KN83", "database": "UniProtKB" } ], "name": "chromatin DNA binding", "id": "GO:0031490" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83", "id": "A3KN83", "database": "UniProtKB" } ], "name": "histone binding", "id": "GO:0042393" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83", "id": "A3KN83", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KN83", "id": "A3KN83", "database": "UniProtKB" } ], "name": "regulation of transcription, DNA-templated", "id": "GO:0006355" } ], "total": 1, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 162, "annotation": "n_glycosylation_sequon", "start_pos": 160 }, { "end_pos": 190, "annotation": "n_glycosylation_sequon", "start_pos": 188 }, { "end_pos": 391, "annotation": "n_glycosylation_sequon", "start_pos": 389 }, { "end_pos": 692, "annotation": "n_glycosylation_sequon", "start_pos": 690 }, { "end_pos": 693, "annotation": "n_glycosylation_sequon", "start_pos": 691 }, { "end_pos": 754, "annotation": "n_glycosylation_sequon", "start_pos": 752 }, { "end_pos": 829, "annotation": "n_glycosylation_sequon", "start_pos": 827 }, { "end_pos": 840, "annotation": "n_glycosylation_sequon", "start_pos": 838 }, { "end_pos": 923, "annotation": "n_glycosylation_sequon", "start_pos": 921 }, { "end_pos": 1273, "annotation": "n_glycosylation_sequon", "start_pos": 1271 }, { "end_pos": 1391, "annotation": "n_glycosylation_sequon", "start_pos": 1389 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161328.1", "id": "NP_001161328.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=22973", "id": "22973", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A3KN83", "id": "A3KN83", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A3KN83", "id": "NX_A3KN83", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBNO1", "id": "SBNO1", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:55206", "id": "hsa:55206", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/GQFWAAH/", "id": "GQFWAAH", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026741", "id": "IPR026741", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026937", "id": "IPR026937", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "id": "IPR027417", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR039187", "id": "IPR039187", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF13871", "id": "PF13871", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF13872", "id": "PF13872", "database": "Pfam" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12706", "id": "PTHR12706", "database": "PANTHER" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A3KN83", "id": "PR_A3KN83", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A3KN83*", "id": "A3KN83", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/55206", "id": "55206", "database": "GeneID" } ], "expression_disease": [ { "trend": "Up", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A3KN83", "id": "A3KN83", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A3KN83", "id": "A3KN83", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A3KN83", "id": "A3KN83", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A3KN83", "id": "A3KN83", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A3KN83", "id": "A3KN83", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A3KN83", "id": "A3KN83", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A3KN83", "id": "A3KN83", "database": "BioXpress" } ] } ], "uniprot_ac": "A3KN83", "disease": [], "mass": { "monoisotopic_mass": 154312.0, "chemical_mass": 154312.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139697", "id": "ENSG00000139697", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A3KN83", "name": "SBNO1; MOP3; Sno.", "locus": { "end_pos": 123289109, "start_pos": 123364843, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000139697", "id": "ENSG00000139697", "database": "Ensembl Gene" } ] } } ] }