{ "synonyms_protein_refseq": [ "GTPase KRas isoform b", "v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog; transforming protein p21; c-Kirsten-ras protein; K-ras p21 protein; oncogene KRAS2; PR310 c-K-ras oncogene; cellular c-Ki-ras2 proto-oncogene; Kirsten rat sarcoma viral proto-oncogene; GTPase KRas; Kirsten rat sarcoma viral oncogene homolog; cellular transforming proto-oncogene" ], "sequence": { "length": 189, "sequence": "MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM" }, "synonyms_gene_uniprotkb": [ "KRAS", "KRAS2", "RASK2" ], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "taxid": 9606, "name": "Homo sapiens" } ], "recommendedname": { "full": "GTPase KRas; c-Ki-ras; K-Ras 2; Ki-Ras; c-K-ras" }, "publication": [ { "title": "BRAF and KRAS mutations in stomach cancer.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/14534542", "journal": "Oncogene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Kim H.S., Lee J.Y., Lee S.H., Lee J.H., Kim S.H., Kim S.Y., Lee J.W., Park J.Y., Park W.S., Yoo N.J., Cho Y.G., Kim C.J., Nam S.W., Soung Y.H.", "date": "2003", "pmid": "14534542" }, { "title": "Activated c-Ha-ras oncogene with a guanine to thymine transversion at the twelfth codon in a human stomach cancer cell line.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/3034404", "journal": "Cancer Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Chen S., Li H., Lu G., Lu Y., Xu X., Liu P., Miao J., Deng G., Cai H., Zheng E.", "date": "1987", "pmid": "3034404" }, { "title": "Isolation of transforming sequences of two human lung carcinomas: structural and functional analysis of the activated c-K-ras oncogenes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/6320174", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Mizuno T., Nakano H., Yamamoto F., Evans D., Neville C., Perucho M.", "date": "1984", "pmid": "6320174" }, { "title": "Discovery of small molecules that bind to K-Ras and inhibit Sos-mediated activation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22566140", "journal": "Angew. Chem. Int. Ed. Engl.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Sun Q., Fesik S.W., Olejniczak E.T., Lee T., Burns M.C., Waterson A.G., Burke J.P., Phan J., Rossanese O.W.", "date": "2012", "pmid": "22566140" }, { "title": "LZTR1 is a regulator of RAS ubiquitination and signaling.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/30442766", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Superti-Furga G., Rebsamen M., Fauster A., Heinz L.X., Mueller A.C., Kralovics R., Bigenzahn J.W., Brummelkamp T.R., Mlodzik M., Blomen V.A., Collu G.M., Kartnig F., Parapatics K., Pieraks M., Schischlik F., Sedlyarov V., Vladimer G.I., Winter G.E.", "date": "2018", "pmid": "30442766" }, { "title": "Activation of a human c-K-ras oncogene.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/6096811", "journal": "Nucleic Acids Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Yamamoto F., Perucho M.", "date": "1984", "pmid": "6096811" }, { "title": "Long noncoding RNA TP53TG1 promotes pancreatic ductal adenocarcinoma development by acting as a molecular sponge of microRNA-96.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/31325400", "journal": "Cancer science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976.2", "id": "NP_004976.2", "database": "RefSeq" } ], "authors": "Zhang Y, Yang H, Du Y, Liu P, Zhang J, Li Y, Shen H, Xing L, Xue X, Chen J, Zhang X", "date": "2019", "pmid": "31325400" }, { "title": "Regulation of RAS oncogenicity by acetylation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22711838", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Bar-Sagi D., Shan Y., Haigis M.C., Haigis K.M., Shaw D.E., Philips M.R., Kim E.T., Yang M.H., Laurent G., Liot C., Nickerson S., Spang R.", "date": "2012", "pmid": "22711838" }, { "title": "Germline KRAS mutations cause Noonan syndrome.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16474405", "journal": "Nat. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Kalscheuer V., Klein C., Musante L., Rauch A., Bollag G., Zenker M., van der Burgt I., Nguyen H., Kratz C.P., Niemeyer C.M., Zhang K.Y.J., Sistermans E., West B., Boell S., Rowe S.L., Schubbert S., Shannon K., Wehner L.-E.", "date": "2006", "pmid": "16474405" }, { "title": "Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21797849", "journal": "Clin. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Ryan M.M., Gillessen-Kaesbach G., Ahmadian M.R., Savarirayan R., Zenker M., Stark Z., Gremer L., Cirstea I.C.", "date": "2012", "pmid": "21797849" }, { "title": "Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17332249", "journal": "Blood", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Kawasaki K., Yamauchi K., Kikuchi A., Ogawa A., Kojima S., Matsuda K., Watanabe A., Tanaka M., Koike K., Yoshida N., Hidaka E., Shimada A., Nakazawa Y., Shiohara M., Ohtsuka Y., Koike K.', Yanagisawa R., Yanai F., Manabe A., Iizuka S., Yajima S., Yanagimachi M.", "date": "2007", "pmid": "17332249" }, { "title": "Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/30442762", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Cai Y., Gevaert K., Zhang M., Impens F., Tavernier J., Messiaen L., Jang H., Baietti M.F., Legius E., Heymans S., Brems H., Renzi F., Sablina A.A., Eyckerman S., Abbasi Asbagh L., Batiuk A., Carai P., De Troyer M., Najm P., Nussinov R., Pandolfi S., Pastor T., Radaelli E., Simicek M., Steklov M.", "date": "2018", "pmid": "30442762" }, { "title": "Activation of the c-K-ras oncogene in a human pancreas carcinoma.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/3855240", "journal": "Biochem. Biophys. Res. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Takaku F., Hirai H., Okabe T., Urabe A., Anraku Y., Fujisawa M.", "date": "1985", "pmid": "3855240" }, { "title": "Cell type-dependent differential activation of ERK by oncogenic KRAS in colon cancer and intestinal epithelium.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/31266962", "journal": "Nature communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976.2", "id": "NP_004976.2", "database": "RefSeq" } ], "authors": "Brandt R, Sell T, Luthen M, Uhlitz F, Klinger B, Riemer P, Giesecke-Thiel C, Schulze S, El-Shimy IA, Kunkel D, Fauler B, Mielke T, Mages N, Herrmann BG, Sers C, Bluthgen N, Morkel M", "date": "2019", "pmid": "31266962" }, { "title": "Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17468812", "journal": "J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Kim C.A., Bertola D.R., Pereira A.C., Krieger J.E., Albano L.M., Brasil A.S.", "date": "2007", "pmid": "17468812" }, { "title": "Small molecule inhibition of the KRAS-PDE? interaction impairs oncogenic KRAS signalling.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23698361", "journal": "Nature", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Wittinghofer A., Ismail S., Hahn S.A., Waldmann H., Bastiaens P.I., Hoffmann M., Vartak N., Zimmermann G., Chandra A., Papke B., Triola G.", "date": "2013", "pmid": "23698361" }, { "title": "Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17056636", "journal": "J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Horn D., Mundlos S., Koenig R., Wehner L.E., Kutsche K., Schnabel D., Lehmann K., Zenker M., Meinecke P., Schulz A.L., Kratz C.P., Korinthenberg R., Raskin S., Morlot S., Barth H., Hansmann D., Kreiss-Nachtsheim M., Quante A.S.", "date": "2007", "pmid": "17056636" }, { "title": "Human colon carcinoma Ki-ras2 oncogene and its corresponding proto-oncogene.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/6092920", "journal": "Mol. Cell. Biol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Weinberg R.A., Bargmann C.I., McCoy M.S.", "date": "1984", "pmid": "6092920" }, { "title": "Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/7773929", "journal": "Cancer", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Lee J.S., Lee J.H., Kim S.H., Kim S.W., Lee K.H., Lee M.S., Kim S.B., Park M.Y., Sun H.S., Suh C.", "date": "1995", "pmid": "7773929" }, { "title": "Structural basis of recognition of farnesylated and methylated KRAS4b by PDEdelta.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27791178", "journal": "Proc. Natl. Acad. Sci. 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Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Thompson P., Bollag G., McCormick F., McCabe P.C., Adler F., Conner E. Jr., Shannon K., elMasry N.", "date": "1996", "pmid": "8955068" }, { "title": "Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19396835", "journal": "Am. J. Med. Genet. A", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Kant S.G., Kriek M., Di Rocco C., Tartaglia M., Zampino G., Zenker M., Pantaleoni F., Kratz C.P., Leoni C., Kloska S.P., Oudesluys-Murphy A.M.", "date": "2009", "pmid": "19396835" }, { "title": "Detection of point mutations in the Kirsten-ras oncogene provides evidence for the multicentricity of pancreatic carcinoma.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/8439212", "journal": "Ann. Surg.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Urano T., Motojima K., Nagata Y., Shiku H., Kanematsu T., Tsurifune T.", "date": "1993", "pmid": "8439212" }, { "title": "RAS pathway activation and an oncogenic RAS mutation in sporadic pilocytic astrocytoma.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16247081", "journal": "Neurology", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "authors": "Gutmann D.H., Zehnbauer B.A., Watson M.A., Sharma M.K.", "date": "2005", "pmid": "16247081" }, { "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/P01116", "id": "P01116", "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" } ], "synonyms_gene_refseq": [ "KRAS", "C-K-RAS; c-Ki-ras; c-Ki-ras2; CFC2; K-Ras; K-Ras 2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; KI-RAS; KRAS1; KRAS2; NS; NS3; OES; RALD; RASK2" ], "mutation": [ { "sequence_org": "G", "subjects_tested": "1044", "subjects_positive": "13", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "name": "Stomach cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.2", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 5 out of 6 filters: patient freq. (1.2%); patient count (13/1044); num. of cancers (15); DB annot. (1); Lit. mined (41). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "399", "subjects_positive": "47", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Pancreatic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "11.8", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 4 out of 6 filters: patient freq. (11.8%); patient count (47/399); num. of cancers (12); Lit. mined (26). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "618", "subjects_positive": "11", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.8", "sequence_mut": "A", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 4 out of 6 filters: patient freq. (1.8%); patient count (11/618); num. of cancers (9); Lit. mined (6). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "399", "subjects_positive": "29", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Pancreatic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "7.3", "sequence_mut": "R", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 4 out of 6 filters: patient freq. (7.3%); patient count (29/399); num. of cancers (7); Lit. mined (5). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "399", "subjects_positive": "68", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Pancreatic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "17.0", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 4 out of 6 filters: patient freq. (17.0%); patient count (68/399); num. of cancers (15); Lit. mined (41). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "618", "subjects_positive": "43", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "7.0", "sequence_mut": "D", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 4 out of 6 filters: patient freq. (7.0%); patient count (43/618); num. of cancers (9); Lit. mined (24). In dbSNP: rs112445441." }, { "sequence_org": "G", "subjects_tested": "618", "subjects_positive": "59", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "9.5", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 4 out of 6 filters: patient freq. (9.5%); patient count (59/618); num. of cancers (12); Lit. mined (26). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "618", "subjects_positive": "66", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "10.7", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 4 out of 6 filters: patient freq. (10.7%); patient count (66/618); num. of cancers (15); Lit. mined (41). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "1514", "subjects_positive": "93", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "6.1", "sequence_mut": "C", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 4 out of 6 filters: patient freq. (6.1%); patient count (93/1514); num. of cancers (10); Lit. mined (13). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "1514", "subjects_positive": "23", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 3 out of 6 filters: patient freq. (1.5%); patient count (23/1514); num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "672", "subjects_positive": "26", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "3.9", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 3 out of 6 filters: patient freq. (3.9%); patient count (26/672); num. of cancers (12). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "1044", "subjects_positive": "11", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "name": "Stomach cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "D", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 3 out of 6 filters: patient freq. (1.1%); patient count (11/1044); num. of cancers (9). In dbSNP: rs112445441." }, { "sequence_org": "A", "subjects_tested": "618", "subjects_positive": "17", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "2.8", "sequence_mut": "T", "start_pos": 146, "end_pos": 146, "type": "Point mutation", "annotation": "Somatic mutation passed 3 out of 6 filters: patient freq. (2.8%); patient count (17/618); num. of cancers (4)." }, { "sequence_org": "G", "subjects_tested": "672", "subjects_positive": "35", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "5.2", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 3 out of 6 filters: patient freq. (5.2%); patient count (35/672); num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "558", "subjects_positive": "13", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "2.3", "sequence_mut": "D", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 3 out of 6 filters: patient freq. (2.3%); patient count (13/558); num. of cancers (9). In dbSNP: rs112445441." }, { "sequence_org": "G", "subjects_tested": "618", "subjects_positive": "14", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "2.3", "sequence_mut": "S", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 3 out of 6 filters: patient freq. (2.3%); patient count (14/618); num. of cancers (6). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "2203", "subjects_positive": "83", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "3.8", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 3 out of 6 filters: patient freq. (3.8%); patient count (83/2203); num. of cancers (12). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "618", "subjects_positive": "17", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "2.8", "sequence_mut": "C", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 3 out of 6 filters: patient freq. (2.8%); patient count (17/618); num. of cancers (10). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "2203", "subjects_positive": "20", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.9", "sequence_mut": "A", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient count (20/2203); num. of cancers (9). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "672", "subjects_positive": "9", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.3", "sequence_mut": "A", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.3%); num. of cancers (9). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "191", "subjects_positive": "2", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Esophageal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.0%); num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "399", "subjects_positive": "1", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Pancreatic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "C", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: num. of cancers (10); Lit. mined (13). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "103", "subjects_positive": "1", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "A", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.0%); num. of cancers (9). In dbSNP: rs121913529." }, { "sequence_org": "Q", "subjects_tested": "191", "subjects_positive": "2", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Esophageal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "H", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.0%); num. of cancers (10). In dbSNP: rs17851045." }, { "sequence_org": "G", "subjects_tested": "499", "subjects_positive": "5", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "name": "Ovarian cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.0%); num. of cancers (12). In dbSNP: rs121913529." }, { "sequence_org": "L", "subjects_tested": "48", "subjects_positive": "1", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "2.1", "sequence_mut": "F", "start_pos": 19, "end_pos": 19, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.1%); num. of cancers (4). In dbSNP: rs121913538." }, { "sequence_org": "G", "subjects_tested": "350", "subjects_positive": "5", "disease": { "doid": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "name": "Cervical cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.4", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.4%); num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "350", "subjects_positive": "4", "disease": { "doid": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "name": "Cervical cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "D", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.1%); num. of cancers (9). In dbSNP: rs112445441." }, { "sequence_org": "G", "subjects_tested": "150", "subjects_positive": "2", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "1.3", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.3%); num. of cancers (12). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "1044", "subjects_positive": "4", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "name": "Stomach cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.4", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: num. of cancers (12); DB annot. (1). In dbSNP: rs121913529." }, { "sequence_org": "Q", "subjects_tested": "25", "subjects_positive": "1", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "4.0", "sequence_mut": "H", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (4.0%); num. of cancers (10). In dbSNP: rs17851045." }, { "sequence_org": "G", "subjects_tested": "1044", "subjects_positive": "4", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "name": "Stomach cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.4", "sequence_mut": "S", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: num. of cancers (6); DB annot. (1). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "742", "subjects_positive": "1", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "R", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 2 out of 6 filters: num. of cancers (7); DB annot. (1). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "558", "subjects_positive": "3", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.5", "sequence_mut": "C", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs121913535." }, { "sequence_org": "G", "subjects_tested": "963", "subjects_positive": "2", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (12). In dbSNP: rs121913529." }, { "sequence_org": "Q", "subjects_tested": "499", "subjects_positive": "1", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "name": "Ovarian cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "L", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913240." }, { "sequence_org": "Q", "subjects_tested": "963", "subjects_positive": "1", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "R", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs121913240." }, { "sequence_org": "Q", "subjects_tested": "399", "subjects_positive": "2", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Pancreatic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.5", "sequence_mut": "R", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs121913240." }, { "sequence_org": "G", "subjects_tested": "456", "subjects_positive": "2", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.4", "sequence_mut": "R", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913530." }, { "sequence_org": "Q", "subjects_tested": "150", "subjects_positive": "1", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.7", "sequence_mut": "H", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs17851045." }, { "sequence_org": "G", "subjects_tested": "1042", "subjects_positive": "1", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "name": "Brain cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "A", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (9). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "350", "subjects_positive": "3", "disease": { "doid": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "name": "Cervical cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.9", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (12). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "820", "subjects_positive": "2", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "name": "Skin cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "R", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913530." }, { "sequence_org": "Q", "subjects_tested": "558", "subjects_positive": "4", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.7", "sequence_mut": "H", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs17851045." }, { "sequence_org": "G", "subjects_tested": "412", "subjects_positive": "1", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Liver cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "D", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (9). In dbSNP: rs112445441." }, { "sequence_org": "G", "subjects_tested": "1144", "subjects_positive": "1", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "name": "Breast cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "C", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs121913530." }, { "sequence_org": "Q", "subjects_tested": "742", "subjects_positive": "1", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "H", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs17851045." }, { "sequence_org": "A", "subjects_tested": "558", "subjects_positive": "1", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "T", "start_pos": 146, "end_pos": 146, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4)." }, { "sequence_org": "G", "subjects_tested": "399", "subjects_positive": "1", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Pancreatic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "A", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (9). In dbSNP: rs121913529." }, { "sequence_org": "Q", "subjects_tested": "1514", "subjects_positive": "3", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "L", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913240." }, { "sequence_org": "Q", "subjects_tested": "963", "subjects_positive": "2", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "K", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs121913238." }, { "sequence_org": "G", "subjects_tested": "742", "subjects_positive": "2", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "C", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "678", "subjects_positive": "5", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "name": "Brain cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.7", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "Q", "subjects_tested": "820", "subjects_positive": "1", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "name": "Skin cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "R", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs121913240." }, { "sequence_org": "Q", "subjects_tested": "1118", "subjects_positive": "1", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "L", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913240." }, { "sequence_org": "A", "subjects_tested": "1044", "subjects_positive": "3", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "name": "Stomach cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "T", "start_pos": 146, "end_pos": 146, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4)." }, { "sequence_org": "A", "subjects_tested": "350", "subjects_positive": "2", "disease": { "doid": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "name": "Cervical cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.6", "sequence_mut": "T", "start_pos": 146, "end_pos": 146, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4)." }, { "sequence_org": "Q", "subjects_tested": "456", "subjects_positive": "3", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.7", "sequence_mut": "R", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs121913240." }, { "sequence_org": "G", "subjects_tested": "256", "subjects_positive": "1", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.4", "sequence_mut": "A", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (9). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "672", "subjects_positive": "6", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.9", "sequence_mut": "C", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs121913530." }, { "sequence_org": "Q", "subjects_tested": "162", "subjects_positive": "1", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.6", "sequence_mut": "L", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913240." }, { "sequence_org": "Q", "subjects_tested": "756", "subjects_positive": "1", "disease": { "doid": "263", "url": "http://disease-ontology.org/term/DOID:263", "name": "Kidney cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "H", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs17851045." }, { "sequence_org": "A", "subjects_tested": "1044", "subjects_positive": "3", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "name": "Stomach cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "T", "start_pos": 59, "end_pos": 59, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: DB annot. (1). In dbSNP: rs121913528." }, { "sequence_org": "Q", "subjects_tested": "1044", "subjects_positive": "3", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "name": "Stomach cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "H", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs17851045." }, { "sequence_org": "G", "subjects_tested": "1514", "subjects_positive": "3", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "D", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (9). In dbSNP: rs112445441." }, { "sequence_org": "G", "subjects_tested": "820", "subjects_positive": "2", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "name": "Skin cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "350", "subjects_positive": "1", "disease": { "doid": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "name": "Cervical cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "C", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs121913530." }, { "sequence_org": "L", "subjects_tested": "742", "subjects_positive": "2", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "F", "start_pos": 19, "end_pos": 19, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs121913538." }, { "sequence_org": "Q", "subjects_tested": "48", "subjects_positive": "1", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "2.1", "sequence_mut": "K", "start_pos": 22, "end_pos": 22, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.1%). In dbSNP: rs121913236." }, { "sequence_org": "L", "subjects_tested": "3028", "subjects_positive": "4", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "F", "start_pos": 19, "end_pos": 19, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs121913538." }, { "sequence_org": "G", "subjects_tested": "655", "subjects_positive": "2", "disease": { "doid": "263", "url": "http://disease-ontology.org/term/DOID:263", "name": "Kidney cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (12). In dbSNP: rs121913529." }, { "sequence_org": "Q", "subjects_tested": "820", "subjects_positive": "1", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "name": "Skin cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "K", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs121913238." }, { "sequence_org": "G", "subjects_tested": "742", "subjects_positive": "1", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "D", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (9). In dbSNP: rs112445441." }, { "sequence_org": "Q", "subjects_tested": "558", "subjects_positive": "1", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "L", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913240." }, { "sequence_org": "G", "subjects_tested": "125", "subjects_positive": "1", "disease": { "doid": "3277", "url": "http://disease-ontology.org/term/DOID:3277", "name": "Thymus cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.8", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "1514", "subjects_positive": "8", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.5", "sequence_mut": "S", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (6). In dbSNP: rs121913530." }, { "sequence_org": "Q", "subjects_tested": "150", "subjects_positive": "1", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.7", "sequence_mut": "L", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913240." }, { "sequence_org": "Q", "subjects_tested": "2203", "subjects_positive": "2", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "H", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs17851045." }, { "sequence_org": "G", "subjects_tested": "1144", "subjects_positive": "3", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "name": "Breast cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (12). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "499", "subjects_positive": "1", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "name": "Ovarian cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "R", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "1144", "subjects_positive": "2", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "name": "Breast cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "1118", "subjects_positive": "1", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "R", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "820", "subjects_positive": "2", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "name": "Skin cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "D", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (9). In dbSNP: rs112445441." }, { "sequence_org": "G", "subjects_tested": "412", "subjects_positive": "1", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Liver cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "C", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs121913530." }, { "sequence_org": "L", "subjects_tested": "456", "subjects_positive": "1", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "F", "start_pos": 19, "end_pos": 19, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs121913538." }, { "sequence_org": "G", "subjects_tested": "1044", "subjects_positive": "2", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "name": "Stomach cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "C", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "1118", "subjects_positive": "1", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "558", "subjects_positive": "3", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.5", "sequence_mut": "S", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (6). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "141", "subjects_positive": "1", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "name": "Breast cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.7", "sequence_mut": "A", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (9). In dbSNP: rs121913529." }, { "sequence_org": "Q", "subjects_tested": "456", "subjects_positive": "4", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.9", "sequence_mut": "K", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs121913238." }, { "sequence_org": "Q", "subjects_tested": "820", "subjects_positive": "2", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "name": "Skin cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "L", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913240." }, { "sequence_org": "G", "subjects_tested": "742", "subjects_positive": "2", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "V", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (12). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "2203", "subjects_positive": "8", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.4", "sequence_mut": "C", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs121913535." }, { "sequence_org": "G", "subjects_tested": "1411", "subjects_positive": "4", "disease": { "doid": "263", "url": "http://disease-ontology.org/term/DOID:263", "name": "Kidney cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "125", "subjects_positive": "1", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.8", "sequence_mut": "A", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (9). In dbSNP: rs121913529." }, { "sequence_org": "Q", "subjects_tested": "780", "subjects_positive": "5", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.6", "sequence_mut": "H", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs17851045." }, { "sequence_org": "G", "subjects_tested": "399", "subjects_positive": "1", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Pancreatic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "S", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (6). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "150", "subjects_positive": "1", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.7", "sequence_mut": "D", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (9). In dbSNP: rs112445441." }, { "sequence_org": "Q", "subjects_tested": "798", "subjects_positive": "7", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Pancreatic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.9", "sequence_mut": "H", "start_pos": 61, "end_pos": 61, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs17851045." }, { "sequence_org": "G", "subjects_tested": "399", "subjects_positive": "1", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Pancreatic cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "C", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs121913535." }, { "sequence_org": "G", "subjects_tested": "456", "subjects_positive": "2", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.4", "sequence_mut": "C", "start_pos": 13, "end_pos": 13, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs121913535." }, { "sequence_org": "G", "subjects_tested": "742", "subjects_positive": "6", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.8", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "G", "subjects_tested": "1514", "subjects_positive": "1", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "R", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (7). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "756", "subjects_positive": "1", "disease": { "doid": "263", "url": "http://disease-ontology.org/term/DOID:263", "name": "Kidney cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "C", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (10). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "1144", "subjects_positive": "1", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "name": "Breast cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "S", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (6). In dbSNP: rs121913530." }, { "sequence_org": "G", "subjects_tested": "412", "subjects_positive": "2", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Liver cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "0.5", "sequence_mut": "D", "start_pos": 12, "end_pos": 12, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (15). In dbSNP: rs121913529." }, { "sequence_org": "A", "subjects_tested": "50", "subjects_positive": "1", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01116", "id": "P01116", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "V", "start_pos": 59, "end_pos": 59, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%). In dbSNP: rs104886029." } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/P01116", "name": "C-K-RAS; c-Ki-ras; c-Ki-ras2; CFC2; K-Ras; K-Ras 2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; KI-RAS; KRAS1; KRAS2; NS; NS3; OES; RALD; RASK2; RASK2; KRAS2; KRAS", "locus": { "end_pos": 25204789, "start_pos": 25250936, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000133703", "id": "ENSG00000133703", "database": "Ensembl Gene" } ] } } ], "synonyms_protein_uniprotkb": [ "GTPase KRas", "c-Ki-ras", "K-Ras 2", "Ki-Ras", "c-K-ras" ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/P01116#G3V4K2-1", "isoform_ac": "G3V4K2-1", "locus": { "end_pos": 25235209, "start_pos": 25245384, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000556131", "id": "ENST00000556131", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000451856", "id": "ENSP00000451856", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 43, "sequence": "MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEVLLSSM" } }, { "url": "https://www.uniprot.org/uniprot/P01116#P01116-2", "isoform_ac": "P01116-2", "locus": { "end_pos": 25209798, "start_pos": 25245384, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000311936", "id": "ENST00000311936", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000308495", "id": "ENSP00000308495", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 188, "sequence": "MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQGVDDAFYTLVREIRKHKEKMSKDGKKKKKKSKTKCVIM" } }, { "url": "https://www.uniprot.org/uniprot/P01116#P01116-1", "isoform_ac": "P01116-1", "locus": { "end_pos": 25215444, "start_pos": 25245384, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000256078", "id": "ENST00000256078", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000256078", "id": "ENSP00000256078", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 189, "sequence": "MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM" } }, { "url": "https://www.uniprot.org/uniprot/P01116#G3V5T7-1", "isoform_ac": "G3V5T7-1", "locus": { "end_pos": 25209798, "start_pos": 25245384, "chromosome": "12", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000557334", "id": "ENST00000557334", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000452512", "id": "ENSP00000452512", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 75, "sequence": "MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEGVDDAFYTLVREIRKHKEKMSKDGKKKKKKSKTKCVIM" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951936", "resource": "Reactome", "id": "R-HSA-8951936", "name": "RUNX3 regulates p14-ARF" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802955", "resource": "Reactome", "id": "R-HSA-6802955", "name": "Paradoxical activation of RAF signaling by kinase inactive BRAF" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9649913", "resource": "Reactome", "id": "R-HSA-9649913", "name": "RAS GTPase cycle mutants" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802946", "resource": "Reactome", "id": "R-HSA-6802946", "name": "Signaling by moderate kinase activity BRAF mutants" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9649948", "resource": "Reactome", "id": "R-HSA-9649948", "name": "Signaling downstream of RAS mutants" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3845", "resource": "KEGG Pathway", "id": "hsa:3845" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976.2", "annotation": "KRAS is the most frequently mutated gene in human cancers. Direct inhibition of KRAS via pharmacological inhibitors has been challenging Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976.2", "id": "NP_004976.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976.2", "annotation": "Dual-luciferase reporter assay in pancreatic ductal adenocarcinoma (PDAC) cells validated that TP53TG1 and 3'UTR of KRAS oncogene mRNA competitively bind with miR-96. Data further indicate that TP53TG1 could effectively function as a sponge for miR-96 to modulate the derepression of KRAS, thus promoting PDAC development.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976.2", "id": "NP_004976.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/P01116#function", "annotation": "Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation (PubMed:23698361, PubMed:22711838). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116#function", "id": "P01116", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976.2", "annotation": "Study shows that LIF expression is induced specifically by oncogenic KRAS in pancreatic ductal adenocarcinomas (PDAC) and that LIF depletion by genetic means or by neutralizing antibodies prevents engraftment in pancreatic xenograft models. The related cytokine IL-6 cannot substitute for LIF, suggesting that LIF mediates KRAS-driven malignancies through a non-STAT-signaling pathway. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976.2", "id": "NP_004976.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976.2", "annotation": "Oncogenic KRAS, together with beta-Catenin, favours expansion of crypt cells with high ERK activity. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976.2", "id": "NP_004976.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "P08644-1", "protein_name": "GTPase KRas; c-Ki-ras; K-Ras 2; Ki-Ras; c-K-ras", "sequence": { "length": 189, "sequence": "MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQELARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCVIM" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/37990", "id": "37990", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "P32883-1", "protein_name": "GTPase KRas; c-Ki-ras; K-Ras 2; Ki-Ras; c-K-ras", "sequence": { "length": 189, "sequence": "MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQELARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCVIM" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/37990", "id": "37990", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976.2", "ac": "NP_004976.2", "name": "GTPase KRas isoform b", "summary": "This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "id": "GO:0019003", "name": "GDP binding" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019002", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "id": "GO:0019002", "name": "GMP binding" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "id": "GO:0005525", "name": "GTP binding" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P01116", "id": "P01116", "database": "UniProtKB" } ], "id": "GO:0003924", "name": "GTPase activity" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", 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