{ "uniprot_canonical_ac": "A2RRP1-1", "sequence": { "header": "sp|A2RRP1-1|NBAS_HUMAN Isoform 1 of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1", "length": 2371, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" }, "uniprot_id": "NBAS_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18318008", "type": "PUBMED", "id": "18318008" } ], "title": "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.", "journal": "Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Gu J., Han G., Jiang X., Wan D., Ye M., Zhou H., Zou H., Feng S., Jiang X.', Tian R.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28576691", "type": "PUBMED", "id": "28576691" } ], "title": "Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.", "journal": "European journal of medical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Regateiro FS, Belkaya S, Neves N, Ferreira S, Silvestre P, Lemos S, Venancio M, Casanova JL, Goncalves I, Jouanguy E, Diogo L", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20462495", "type": "PUBMED", "id": "20462495" } ], "title": "Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery.", "journal": "Structure", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Ciccarelli F.D., Di Fonzo A., Musacchio A., Santaguida S., Civril F., Giorgi F.M., Grigorean G., Wehenkel A.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19608861", "type": "PUBMED", "id": "19608861" } ], "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Choudhary C., Gnad F., Kumar C., Mann M., Nielsen M.L., Olsen J.V., Rehman M., Walther T.C.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28629372", "type": "PUBMED", "id": "28629372" } ], "title": "Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.", "journal": "BMC gastroenterology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Li JQ, Qiu YL, Gong JY, Dou LM, Lu Y, Knisely AS, Zhang MH, Luan WS, Wang JS", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29929043", "type": "PUBMED", "id": "29929043" } ], "title": "Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.", "journal": "Bone", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Palagano E, Zuccarini G, Prontera P, Borgatti R, Stangoni G, Elisei S, Mantero S, Menale C, Forlino A, Uva P, Oppo M, Vezzoni P, Villa A, Merlo GR, Sobacchi C", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20577004", "type": "PUBMED", "id": "20577004" } ], "title": "Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly.", "journal": "J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Takahashi H., Kuwano R., Hara K., Takagi M., Nishizawa M., Onodera O., Fujiwara H., Oyama T., Usui T., Maksimova N., Nikolaeva I., Nogovicina A., Sukhomyasova A., Miyashita A., Chun-Feng T., Nishihira Y., Potapova S.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12706883", "type": "PUBMED", "id": "12706883" } ], "title": "The neuroblastoma amplified gene, NAG: genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma.", "journal": "Gene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Lu X., Scott D.K., Lunec J., Board J.R., Kenyon R.M., Pearson A.D.J.", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26073778", "type": "PUBMED", "id": "26073778" } ], "title": "Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Baric I., Graf E., Haack T.B., Meitinger T., Prokisch H., Strom T.M., Taylor R.W., Vockley J., Wieland T., Freisinger P., Hoffmann G.F., Zschocke J., Thiel C., Kremer L.S., Bader D.M., Distelmaier F., Gagneur J., Schwarzmayr T., Koelker S., Staufner C., Kotzaeridou U., Kuehr J., Terrile C., Straub B.K., Beisse F., Burgard P., Dikow N., Ghaloul-Gonzalez L., Harting I., Himbert U., Koepke M.G., McKiernan P.J.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/10882752", "type": "PUBMED", "id": "10882752" } ], "title": "Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon.", "journal": "J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "White P.S., Brodeur G.M., Krahe R., Plass C., Rush L.J., Costello J.F., Reiter J.L., Fruehwald M.C., O'Dorisio M.S., Smiraglia D.J., Wenger G.", "date": "2000" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19369418", "type": "PUBMED", "id": "19369418" } ], "title": "Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport.", "journal": "Mol. Biol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Isobe T., Aoki T., Tagaya M., Itoh A., Shinkawa T., Ichimura S., Kuramoto M.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26286438", "type": "PUBMED", "id": "26286438" } ], "title": "NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.", "journal": "Am. J. Med. Genet. A", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Superti-Furga A., Munier F.L., Ballhausen D., Candotti F., Bonafe L., Unger S., Rivolta C., Royer-Bertrand B., Garcia Segarra N., Campos-Xavier B., Stevenson B., Crawford H., Perreau M., Russo M., Vermeer C., Zambelli P.Y., van Spaendonck-Zwarts K.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27789416", "type": "PUBMED", "id": "27789416" } ], "title": "Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.", "journal": "Bone", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF, Shackley F, Connolly S, Payne JH, Offiah AC, Hughes D, Parker MJ, Hide W, Skerry TM", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/9926938", "type": "PUBMED", "id": "9926938" } ], "title": "Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma.", "journal": "Oncogene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Ambros P.F., Hanash S.M., Kuick R., Lamb B.J., Wimmer K., Kovar H., Zhu X.X., Alberts J.R., Motyka S., Thoraval D.", "date": "1999" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29369590", "type": "PUBMED", "id": "29369590" } ], "title": "[Population frequency and age of mutation G5741-->A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic].", "journal": "Genetika", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Maksimova NR, Nogovicina AN, Kurtanov KA, Alekseeva EI", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11954550", "type": "PUBMED", "id": "11954550" } ], "title": "A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.", "journal": "Journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K", "date": "2002" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17028906", "type": "PUBMED", "id": "17028906" } ], "title": "Relationship of DDX1 and NAG gene amplification/overexpression to the prognosis of patients with MYCN-amplified neuroblastoma.", "journal": "Journal of cancer research and clinical oncology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Kaneko S, Ohira M, Nakamura Y, Isogai E, Nakagawara A, Kaneko M", "date": "2007" } ], "uniprot_ac": "A2RRP1", "site_annotation": [ { "end_pos": 2284, "annotation": "n_glycosylation_sequon", "start_pos": 2282 }, { "end_pos": 1809, "annotation": "n_glycosylation_sequon", "start_pos": 1807 }, { "end_pos": 222, "annotation": "n_glycosylation_sequon", "start_pos": 220 }, { "end_pos": 1422, "annotation": "n_glycosylation_sequon", "start_pos": 1420 }, { "end_pos": 1382, "annotation": "n_glycosylation_sequon", "start_pos": 1380 }, { "end_pos": 1185, "annotation": "n_glycosylation_sequon", "start_pos": 1183 }, { "end_pos": 1189, "annotation": "n_glycosylation_sequon", "start_pos": 1187 }, { "end_pos": 672, "annotation": "n_glycosylation_sequon", "start_pos": 670 }, { "end_pos": 2250, "annotation": "n_glycosylation_sequon", "start_pos": 2248 } ], "mutation": [ { "sequence_org": "G", "start_pos": 1450, "subjects_positive": "36", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.4", "sequence_mut": "V", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1450, "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.4%); patient count (36/1514)." }, { "sequence_org": "K", "start_pos": 382, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "E", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 382, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "P", "start_pos": 71, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "L", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 71, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "R", "start_pos": 2263, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "" } }, { "synonyms": [ { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "" } }, { "synonyms": [ { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.7", "sequence_mut": "*", "subjects_tested": "141", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 2263, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs746756510." }, { "sequence_org": "A", "start_pos": 1177, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1177, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "E", "start_pos": 1706, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.1", "sequence_mut": "G", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1706, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.1%)." }, { "sequence_org": "E", "start_pos": 1757, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "" } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "" } }, { "synonyms": [ { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck neoplasm", "description": "" }, { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck tumours", "description": "" }, { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head/neck neoplasm", "description": "" }, { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "tumor of head and neck", "description": "" } ], "recommended_name": { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "K", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1757, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs773927038." }, { "sequence_org": "L", "start_pos": 1678, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "V", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1678, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%). In dbSNP: rs1341699816." }, { "sequence_org": "T", "start_pos": 1030, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "I", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1030, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "R", "start_pos": 1334, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "Ca body of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "Ca head of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "Ca tail of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreas neoplasm", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic neoplasm", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic tumor", "description": "" } ], "recommended_name": { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic cancer", "description": "" } }, { "synonyms": [ { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca body - stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "ca greater curvature of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric cancer", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric neoplasm", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of lesser curve of stomach", "description": "" } ], "recommended_name": { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "stomach cancer", "description": "" } }, { "synonyms": [ { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - Brain tumour", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult brain tumor", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm, adult", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant brain tumour", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain tumor", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of Brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of adult brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "neoplasm of brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain neoplasm", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain tumor", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "tumor of the Brain", "description": "" } ], "recommended_name": { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "H", "subjects_tested": "399", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1334, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs140188229." }, { "sequence_org": "L", "start_pos": 1639, "subjects_positive": "1", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "V", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1639, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "H", "start_pos": 975, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.1", "sequence_mut": "L", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 975, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.1%)." }, { "sequence_org": "T", "start_pos": 53, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "M", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 53, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "R", "start_pos": 1073, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "cervical neoplasm", "description": "" }, { "id": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "cervix cancer", "description": "" }, { "id": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "cervix uteri cancer", "description": "" }, { "id": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "uterine cervical neoplasm", "description": "" } ], "recommended_name": { "id": "4362", "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "name": "cervical cancer", "description": "" } }, { "synonyms": [ { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca body - stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "ca greater curvature of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric cancer", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric neoplasm", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of lesser curve of stomach", "description": "" } ], "recommended_name": { "id": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "stomach cancer", "description": "" } }, { "synonyms": [ { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.3", "sequence_mut": "H", "subjects_tested": "350", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1073, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs557345395." }, { "sequence_org": "A", "start_pos": 48, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 48, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "I", "start_pos": 243, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "" } }, { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.8", "sequence_mut": "V", "subjects_tested": "125", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 243, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "L", "start_pos": 2082, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "V", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 2082, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%)." }, { "sequence_org": "A", "start_pos": 1456, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "malignant tumour of kidney", "description": "" }, { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "renal cancer", "description": "" } ], "recommended_name": { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "kidney cancer", "description": "" } }, { "synonyms": [ { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "" } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "V", "subjects_tested": "408", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1456, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "N", "start_pos": 1464, "subjects_positive": "1", "disease": [ { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "S", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1464, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%)." }, { "sequence_org": "R", "start_pos": 1786, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "" } }, { "synonyms": [ { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "" } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "*", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1786, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs556229592." }, { "sequence_org": "R", "start_pos": 2225, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "" } }, { "synonyms": [ { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "" } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "C", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 2225, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs550986350." }, { "sequence_org": "Y", "start_pos": 1800, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "F", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1800, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "S", "start_pos": 570, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 570, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "S", "start_pos": 728, "subjects_positive": "1", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "*", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 728, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "S", "start_pos": 445, "subjects_positive": "2", "disease": [ { "synonyms": [ { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "C", "subjects_tested": "191", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 445, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%)." }, { "sequence_org": "I", "start_pos": 985, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "T", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 985, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "I", "start_pos": 1242, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "M", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1242, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%)." }, { "sequence_org": "L", "start_pos": 1033, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "F", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1033, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "R", "start_pos": 1004, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "" } }, { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "Q", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1004, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "K", "start_pos": 1519, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "E", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1519, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "L", "start_pos": 2295, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 2295, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7C007-1", "isoform_ac": "H7C007-1", "locus": { "end_pos": 15190403, "start_pos": 15238686, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000417461", "id": "ENST00000417461", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000392421", "id": "ENSP00000392421", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C007-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 171, "sequence": "LSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKG" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7C1U4-1", "isoform_ac": "H7C1U4-1", "locus": { "end_pos": 15483359, "start_pos": 15511303, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000427792", "id": "ENST00000427792", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000402458", "id": "ENSP00000402458", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C1U4-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 100, "sequence": "XASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQVLD" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#A2RRP1-1", "isoform_ac": "A2RRP1-1", "locus": { "end_pos": 15167051, "start_pos": 15561304, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000281513", "id": "ENST00000281513", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000281513", "id": "ENSP00000281513", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RRP1-1|NBAS_HUMAN Isoform 1 of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1", "length": 2371, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#A2RRP1-2", "isoform_ac": "A2RRP1-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A2RRP1-2|NBAS_HUMAN Isoform 2 of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1", "length": 2251, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7C1Y9-1", "isoform_ac": "H7C1Y9-1", "locus": { "end_pos": 15178149, "start_pos": 15190397, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000423602", "id": "ENST00000423602", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000403119", "id": "ENSP00000403119", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C1Y9-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 137, "sequence": "IADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTDIF" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7BZR3-1", "isoform_ac": "H7BZR3-1", "locus": { "end_pos": 15167051, "start_pos": 15190403, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000433283", "id": "ENST00000433283", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000390920", "id": "ENSP00000390920", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BZR3-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 184, "sequence": "VDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H0Y5G7-1", "isoform_ac": "H0Y5G7-1", "locus": { "end_pos": 15167050, "start_pos": 15424394, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000442506", "id": "ENST00000442506", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000398411", "id": "ENSP00000398411", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y5G7-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 1419, "sequence": "XMTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#C9JCM7-1", "isoform_ac": "C9JCM7-1", "locus": { "end_pos": 15374609, "start_pos": 15424392, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000441755", "id": "ENST00000441755", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000396501", "id": "ENSP00000396501", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JCM7-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 281, "sequence": "MTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQ" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7BZU5-1", "isoform_ac": "H7BZU5-1", "locus": { "end_pos": 15393665, "start_pos": 15417581, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000429842", "id": "ENST00000429842", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000391476", "id": "ENSP00000391476", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BZU5-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 204, "sequence": "XKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRNLFTTSLSVDIWVILSFGFYK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51594", "resource": "KEGG Pathway", "id": "hsa:51594", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434", "resource": "Reactome", "id": "R-HSA-6811434", "name": "COPI-dependent Golgi-to-ER retrograde traffic" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1#function", "annotation": "Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1#function", "id": "A2RRP1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "Variants in NBAS, are reported as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "NBAS was the only candidate gene mutated in more than one patient. All NBAS mutations were novel and predictedly pathogenic. Of these mutations, 3 lay in distal (C-terminal) regions of NBAS, a novel distribution. Unlike the 2 patients without NBAS mutations, the 3 patients with confirmed NBAS mutations all suffered from a febrile illness before each episode of liver crisis (fever-related recurrent acute liver failure) Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "A novel homozygous truncating mutation in the NBAS gene was identified in a family with Acrofrontofacionasal Dysostosis type 1.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "A novel compound heterozygous mutations of NBAS (NM_015909.3): c.680A > C (p.His227Pro) were identified in two siblings with acute liver failure.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "The age of the mutation in Yakutia was estimated to be about 804 +/- 140 years. The frequency of heterozygous carriers of mutation G5741-->A (R1914H) in gene NBAS was found, which averaged 13 per 1000 healthy Yakuts", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "There may be a subset of NB in which enhanced DDX1 and low-NAG expression consequent to DDX1 co-amplification without NAG amplification contributes to susceptibility to intensive therapy.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] } ], "orthologs": [], "interactions": [], "synthesized_glycans": [], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "ac": "NP_056993.2", "name": "neuroblastoma-amplified sequence", "summary": "This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "pmid": "19369418", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "SNARE binding", "id": "GO:0000149" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070939", "pmid": "20462495", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "Dsl1/NZR complex", "id": "GO:0070939" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "pmid": "19369418", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "pmid": "19946888", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "endoplasmic reticulum membrane", "id": "GO:0005789" } ], "total": 5, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "pmid": "19369418", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000956", "pmid": "23828042", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "nuclear-transcribed mRNA catabolic process", "id": "GO:0000956" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000623", "pmid": "23828042", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:2000623" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "protein transport", "id": "GO:0015031" } ], "total": 4, "name": "Biological Process" } ] }, "gene_names": [ { "type": "synonym", "resource": "uniprotkb", "name": "NAG" }, { "type": "synonym", "resource": "refseq", "name": "NBAS" }, { "type": "synonym", "resource": "refseq", "name": "ILFS2; NAG; SOPH" }, { "type": "recommended", "resource": "uniprotkb", "name": "NBAS" } ], "crossref": [ { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RRP1*", "id": "A2RRP1", "database": "IntAct" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2RRP1", "id": "PR_A2RRP1", "database": "PRO" }, { "url": "http://www.orthodb.org/?query=11548at2759", "id": "11548at2759", "database": "OrthoDB" }, { "url": "http://www.omim.org/entry/608025", "id": "608025", "database": "MIM" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029145", "id": "IPR029145", "database": "InterPro" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/51594", "id": "51594", "database": "GeneID" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBAS", "id": "NBAS", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51594", "id": "hsa:51594", "database": "KEGG Pathway" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434", "id": "R-HSA-6811434", "database": "Reactome" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" }, { "url": "http://www.omim.org/entry/616483", "id": "616483", "database": "MIM" }, { "url": "http://pfam.xfam.org/family/PF08314", "id": "PF08314", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A2RRP1", "id": "A2RRP1", "database": "PHAROS" }, { "url": "https://omabrowser.org/oma/group/WWADGAV/", "id": "WWADGAV", "database": "OMA" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15625", "id": "15625", "database": "HGNC" }, { "url": "https://www.nextprot.org/entry/NX_A2RRP1", "id": "NX_A2RRP1", "database": "neXtProt" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011044", "id": "IPR011044", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF15492", "id": "PF15492", "database": "Pfam" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" }, { "url": "http://www.omim.org/entry/614800", "id": "614800", "database": "MIM" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013244", "id": "IPR013244", "database": "InterPro" } ], "expression_disease": [ { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "Liver cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Up", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "Lung squamous cell carcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "Yes" }, { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "Lung adenocarcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" } ], "glycosylation": [], "disease": [ { "synonyms": [ { "id": "0014659", "url": "https://monarchinitiative.org/disease/MONDO:0014659#gene-causal", "resource": "MONDO", "name": "infantile liver failure syndrome 2; ILFS2", "description": "" }, { "id": "0014659", "url": "https://monarchinitiative.org/disease/MONDO:0014659#gene-causal", "resource": "MONDO", "name": "infantile liver failure syndrome 2", "description": "" }, { "id": "0014659", "url": "https://monarchinitiative.org/disease/MONDO:0014659#gene-causal", "resource": "MONDO", "name": "infantile liver failure caused by mutation in NBAS", "description": "" }, { "id": "0014659", "url": "https://monarchinitiative.org/disease/MONDO:0014659#gene-causal", "resource": "MONDO", "name": "infantile liver failure syndrome type 2", "description": "" }, { "id": "0014659", "url": "https://monarchinitiative.org/disease/MONDO:0014659#gene-causal", "resource": "MONDO", "name": "NBAS infantile liver failure", "description": "" }, { "id": "0014659", "url": "https://monarchinitiative.org/disease/MONDO:0014659#gene-causal", "resource": "MONDO", "name": "ILFS2", "description": "" } ], "recommended_name": { "id": "0014659", "url": "https://monarchinitiative.org/disease/MONDO:0014659#gene-causal", "resource": "MONDO", "name": "fever-associated acute infantile liver failure syndrome", "description": "" }, "evidence": [ { "url": "https://www.omim.org/entry/616483", "id": "616483", "database": "MIM" } ] }, { "synonyms": [ { "id": "0013889", "url": "https://monarchinitiative.org/disease/MONDO:0013889#gene-causal", "resource": "MONDO", "name": "soph", "description": "" }, { "id": "0013889", "url": "https://monarchinitiative.org/disease/MONDO:0013889#gene-causal", "resource": "MONDO", "name": "short stature-optic atrophy-Pelger-Hut anomaly syndrome", "description": "" }, { "id": "0013889", "url": "https://monarchinitiative.org/disease/MONDO:0013889#gene-causal", "resource": "MONDO", "name": "soph syndrome", "description": "" }, { "id": "0013889", "url": "https://monarchinitiative.org/disease/MONDO:0013889#gene-causal", "resource": "MONDO", "name": "short stature, optic nerve atrophy, and Pelger-Huet anomaly", "description": "" }, { "id": "0013889", "url": "https://monarchinitiative.org/disease/MONDO:0013889#gene-causal", "resource": "MONDO", "name": "short stature with optic atrophy and Pelger-Hut anomaly syndrome", "description": "" }, { "id": "0013889", "url": "https://monarchinitiative.org/disease/MONDO:0013889#gene-causal", "resource": "MONDO", "name": "short stature, optic nerve atrophy, and Pelger-Huet anomaly; soph", "description": "" } ], "recommended_name": { "id": "0013889", "url": "https://monarchinitiative.org/disease/MONDO:0013889#gene-causal", "resource": "MONDO", "name": "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome", "description": "" }, "evidence": [ { "url": "https://www.omim.org/entry/614800", "id": "614800", "database": "MIM" } ] } ], "phosphorylation": [ { "residue": "Ser", "position": "473", "kinase_uniprot_canonical_ac": "Q6P1J9-1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18452278", "id": "18452278", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18491316", "id": "18491316", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19651622", "id": "19651622", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20166139", "id": "20166139", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RRP1.html", "id": "A2RRP1", "database": "phospho.ELM" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21406692", "id": "21406692", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ] }, { "residue": "Thr", "position": "511", "kinase_uniprot_canonical_ac": "Q6P1J9-1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ] }, { "residue": "Ser", "position": "475", "kinase_uniprot_canonical_ac": "Q6P1J9-1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19651622", "id": "19651622", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20166139", "id": "20166139", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RRP1.html", "id": "A2RRP1", "database": "phospho.ELM" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21406692", "id": "21406692", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ] }, { "residue": "Ser", "position": "2052", "kinase_uniprot_canonical_ac": "Q6P1J9-1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ] }, { "residue": "Ser", "position": "473", "kinase_uniprot_canonical_ac": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ] }, { "residue": "Ser", "position": "475", "kinase_uniprot_canonical_ac": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ] }, { "residue": "Thr", "position": "1443", "kinase_uniprot_canonical_ac": "Q6P1J9-1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26592762", "id": "26592762", "database": "PubMed" } ] } ], "mass": { "monoisotopic_mass": 268571.0, "chemical_mass": 268571.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "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=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "name": "NBAS", "locus": { "end_pos": 15166909, "start_pos": 15561330, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000151779", "id": "ENSG00000151779", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "type": "synonym", "resource": "refseq", "name": "NAG/BC035112 fusion; NAG/FAM49A fusion; neuroblastoma-amplified gene protein; neuroblastoma amplified sequence" }, { "type": "synonym", "resource": "refseq", "name": "neuroblastoma-amplified sequence" }, { "type": "recommended", "resource": "uniprotkb", "name": "Neuroblastoma-amplified sequence" }, { "type": "synonym", "resource": "uniprotkb", "name": "Neuroblastoma-amplified gene protein" } ] }