{ "uniprot_canonical_ac": "A2RRP1-1", "sequence": { "length": 2371, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" }, "uniprot_id": "NBAS_HUMAN", "enzyme_annotation": [], "alternativenames": [ { "full": "Neuroblastoma-amplified gene protein", "short": "" } ], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Neuroblastoma-amplified sequence" }, "publication": [ { "title": "Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/28576691", "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", "pmid": "28576691" }, { "title": "Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27789416", "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", "pmid": "27789416" }, { "title": "Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/28629372", "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", "pmid": "28629372" }, { "title": "[Population frequency and age of mutation G5741-->A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic].", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29369590", "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", "pmid": "29369590" }, { "title": "NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26286438", "journal": "Am. J. Med. Genet. A", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1/publications", "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", "pmid": "26286438" }, { "title": "Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26073778", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1/publications", "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", "pmid": "26073778" }, { "title": "Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20462495", "journal": "Structure", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1/publications", "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", "pmid": "20462495" }, { "title": "Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20577004", "journal": "J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1/publications", "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", "pmid": "20577004" }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19608861", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1/publications", "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", "pmid": "19608861" }, { "title": "Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19369418", "journal": "Mol. Biol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1/publications", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Isobe T., Aoki T., Tagaya M., Itoh A., Shinkawa T., Ichimura S., Kuramoto M.", "date": "2009", "pmid": "19369418" }, { "title": "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18318008", "journal": "Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1/publications", "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", "pmid": "18318008" }, { "title": "Relationship of DDX1 and NAG gene amplification/overexpression to the prognosis of patients with MYCN-amplified neuroblastoma.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17028906", "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", "pmid": "17028906" }, { "title": "The neuroblastoma amplified gene, NAG: genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/12706883", "journal": "Gene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1/publications", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Lu X., Scott D.K., Lunec J., Board J.R., Kenyon R.M., Pearson A.D.J.", "date": "2003", "pmid": "12706883" }, { "title": "Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/10882752", "journal": "J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1/publications", "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", "pmid": "10882752" }, { "title": "Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/9926938", "journal": "Oncogene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1/publications", "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", "pmid": "9926938" } ], "glycosylation": [], "mutation": [ { "start_pos": 2324, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "C", "subjects_tested": "94", "end_pos": 2324, "type": "Point mutation" }, { "start_pos": 2295, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 2295, "type": "Point mutation" }, { "start_pos": 2082, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0108", "annotation": "Somatic mutation in Ovarian cancer (DOID:2394) with frequency of 1/93 (0.0108)", "sequence_org": "L", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "V", "subjects_tested": "93", "end_pos": 2082, "type": "Point mutation" }, { "start_pos": 1812, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0227", "annotation": "Somatic mutation in Head and neck cancer (DOID:11934) with frequency of 1/44 (0.0227)", "sequence_org": "E", "disease": { "doid": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "icd10": "", "name": "Head and neck cancer" }, "sequence_mut": "Q", "subjects_tested": "44", "end_pos": 1812, "type": "Point mutation" }, { "start_pos": 1800, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "Y", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "F", "subjects_tested": "50", "end_pos": 1800, "type": "Point mutation" }, { "start_pos": 1755, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0227", "annotation": "Somatic mutation in Head and neck cancer (DOID:11934) with frequency of 1/44 (0.0227)", "sequence_org": "D", "disease": { "doid": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "icd10": "", "name": "Head and neck cancer" }, "sequence_mut": "H", "subjects_tested": "44", "end_pos": 1755, "type": "Point mutation" }, { "start_pos": 1639, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0152", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/66 (0.0152)", "sequence_org": "L", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "V", "subjects_tested": "66", "end_pos": 1639, "type": "Point mutation" }, { "start_pos": 1529, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "L", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "I", "subjects_tested": "94", "end_pos": 1529, "type": "Point mutation" }, { "start_pos": 1519, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Breast cancer (DOID:1612) with frequency of 1/50 (0.0200)", "sequence_org": "K", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "E", "subjects_tested": "50", "end_pos": 1519, "type": "Point mutation" }, { "start_pos": 1464, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "N", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "S", "subjects_tested": "94", "end_pos": 1464, "type": "Point mutation" }, { "start_pos": 1458, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "Q", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "P", "subjects_tested": "94", "end_pos": 1458, "type": "Point mutation" }, { "start_pos": 1287, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0227", "annotation": "Somatic mutation in Head and neck cancer (DOID:11934) with frequency of 1/44 (0.0227)", "sequence_org": "L", "disease": { "doid": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "icd10": "", "name": "Head and neck cancer" }, "sequence_mut": "F", "subjects_tested": "44", "end_pos": 1287, "type": "Point mutation" }, { "start_pos": 1177, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "S", "subjects_tested": "50", "end_pos": 1177, "type": "Point mutation" }, { "start_pos": 1141, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0263", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/38 (0.0263)", "sequence_org": "M", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "V", "subjects_tested": "38", "end_pos": 1141, "type": "Point mutation" }, { "start_pos": 1033, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "F", "subjects_tested": "50", "end_pos": 1033, "type": "Point mutation" }, { "start_pos": 1030, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "T", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "I", "subjects_tested": "50", "end_pos": 1030, "type": "Point mutation" }, { "start_pos": 1004, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Breast cancer (DOID:1612) with frequency of 1/50 (0.0200)", "sequence_org": "R", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "Q", "subjects_tested": "50", "end_pos": 1004, "type": "Point mutation" }, { "start_pos": 1004, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0152", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/66 (0.0152)", "sequence_org": "R", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "Q", "subjects_tested": "66", "end_pos": 1004, "type": "Point mutation" }, { "start_pos": 985, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "I", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "T", "subjects_tested": "50", "end_pos": 985, "type": "Point mutation" }, { "start_pos": 974, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0263", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/38 (0.0263)", "sequence_org": "Q", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "*", "subjects_tested": "38", "end_pos": 974, "type": "Point mutation" }, { "start_pos": 728, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0152", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/66 (0.0152)", "sequence_org": "S", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "*", "subjects_tested": "66", "end_pos": 728, "type": "Point mutation" }, { "start_pos": 601, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "E", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "Q", "subjects_tested": "94", "end_pos": 601, "type": "Point mutation" }, { "start_pos": 570, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 570, "type": "Point mutation" }, { "start_pos": 382, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "K", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "E", "subjects_tested": "50", "end_pos": 382, "type": "Point mutation" }, { "start_pos": 319, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "D", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "E", "subjects_tested": "94", "end_pos": 319, "type": "Point mutation" }, { "start_pos": 313, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "H", "subjects_tested": "94", "end_pos": 313, "type": "Point mutation" }, { "start_pos": 71, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "P", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "L", "subjects_tested": "50", "end_pos": 71, "type": "Point mutation" }, { "start_pos": 53, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "T", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "M", "subjects_tested": "50", "end_pos": 53, "type": "Point mutation" }, { "start_pos": 48, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "S", "subjects_tested": "50", "end_pos": 48, "type": "Point mutation" }, { "start_pos": 1450, "subjects_positive": "35", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "frequency": "0.0231", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 35/1514 (0.0231)", "sequence_org": "G", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "V", "subjects_tested": "1514", "end_pos": 1450, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1#A2RRP1-2", "isoform_ac": "A2RRP1-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "sequence": { "length": 2251, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "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": { "length": 1419, "sequence": "XMTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "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": { "length": 2371, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "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": { "length": 100, "sequence": "XASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQVLD" } }, { "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": { "length": 137, "sequence": "IADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTDIF" } }, { "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": { "length": 204, "sequence": "XKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRNLFTTSLSVDIWVILSFGFYK" } }, { "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": { "length": 184, "sequence": "VDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "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": { "length": 171, "sequence": "LSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKG" } }, { "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": { "length": 281, "sequence": "MTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQ" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?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": "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": "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": "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": "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": [ { "uniprot_canonical_ac": "F1M0U5-1", "protein_name": "", "sequence": { "length": 2357, "sequence": "MAAPESAPALSPGSADEEETILYDLLVNTEWPPETEVQPRGNRKHGASFIITKAIKDHLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLANNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVIAPASVFAGDLSYAIAGLVFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHSFSFADHYPHGVNTAIYHPGHRLLLVGGCETAELGISKASSCGLSAWRVLSGSPYYKQVTNGGDRVTEVPKTLGLLKLLSVKFYTRQGQEQDGIFKMSLSPDGSLLAAIHFSGKLSIWAIPSLKQQGVWRQDEQPGYDELNPDWTLSPEKRKKVKDKESFYPLIDVNWWADGAVTLARCSGALTVSSSKSLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRVEMRAGEEDEGDVDSDWDHETSAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNIASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALVAIGKGVDDGRFTLPGDVDLDGITYEELSPPHKEPAQSKRQKELKKRHELLKLVNFSKLTLEQKELCRCRLKLLTFLDRLATYEEILGAPHASEQRYDAEFFKKFRSQNIVLSARTYARESNVQALEILLTYHGSDLLPHRLAILSNFPETTSPHEYAVLLPEACWNNDSLMIIPWAEQKHRAEDWCEELECRMVVEPGLQDDSEFLYAAQPELLQYRTPQLTVEKAMAWYRSRAQDIEHHAGQVDCALSLVRLGMERHIPGLLTLCDDLVTLETLVYEAGCDFTLTLKDLQQMKDFEKLRLLMERCSEDNYVTSAYQWMVPFLHRCEKQSAGAANELLREYLVTLAKGDLKLPLKIFQHSKPDLQQKIIPDEDQLMAIALECIYNCERSDQLSLCYDILECLPQRGCGLNTKVTSSLHDMVDQLEKILSVSELLKNHGLEKPVSFVKNTQSSSEEARSLMVRLTRRTGRKQPSVGESHWRMLLQDMLTMQQHVYTCLDSSACYEIFTESLLCSSRLENIHLAGQMMQCSACSDNLPAGVVHKGKPQYRVSYERSIDLVLAASREYFNSSTSLTDSCMDLARCCLQLITDRPAAIQEELDLIQALGYLEEFGVKILPLQVRLCSDRISLIKECVSQSPTCYKQSAKLLGLAELLRVAGEDPEERHGQVLILLVEQALNVHDYKAASTYCQELMAAGYPDSWDVCSQLGQAEGFRDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFEIHPEGENINVVSPLTGKVLQEDDTSLGSSSADLLQWTTATTMRVLSNTTTTTRAVLQAVSDGQWWKKSLAYLRPLQGQDFGGAYRIGTVANDDLERQGCHPFYESVIANPFVTEVPVESLAEVLLRTGKLAEAKAQVFPTTEVLLQLASDALPNDMTLALAYLLALPQVLDANKCFEKQAHSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRVDPKELIKMVTRHVAQHGHEAWPEDLLSLTRQLHYYNERLLDFTQAQLLQGLRKGVDVQRFTADDQYKRETILGLAETLEENVYSIALSLAQRYSISQWEVFMTHLEFLFSDSGLSTGEIEKRAQALHLFDTLKTDPESFHKHMVKYIYPTIEGLDHERLLYYFTLLESCGCADFETAAIKPEIHIRLLKKFKVVASGLNYKKLTDKSEDALEALEPVLTSQNILSISKLAPRIPEKEGQMLSPSSLYTVWLQKLFWTGDPHLIKQAPESSAEWLHAYDVCLKYFDRLGPHDLITVVDAITFSPKAVSKLSVEAREEMTRKAIKTVKHFIEKPRKRNSEEDPQEGSGSQATYADALAHLETSLAHLETLSHSFILSLKNSEQEVLQKYSYLYDLSRAEKGKLNDQAVAMCLDGQPLRMIQQLLEVAIGPVNISPKDVVHTAITQIISSLSGTGADLCGSRDPLQVLEGVVGAVRTSVDNGEELVSAEDLLQWLRPFCAEDSCPVRPRIQVLQLLGQSFHLSEEDNKLLVFFRTEAILRAAWPQRQVDVADTESEESRHSLFMELLESSHHEVEFQHLILLLQAWPPMKSECVIANNLWVRLVTVMLTRCTTENKQRLGDEVLKICRSLYNSGQMLPVQGVKELCLLLLHQSLLLPSLKLLLESGDETLQAMALEQISAVTKVNDSNCDQELLSLLVDARLLVKCVSTPFYPHIIAHLVANNQQGRWNAEELARHLQEAGHEAEAGSLLLAVQGTHRVFRTFSTALSALRQWV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RRP1/", "id": "A2RRP1", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "E9Q411-1", "protein_name": "", "sequence": { "length": 2356, "sequence": "MAAPESAPALSPGSADEEETILYDLLVNTEWPPETEVQLRGNRKHGASFIITKAIRDHLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLANNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVIAPASVFAGDLSYAIAGLVFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHSFSFSGHYPHGINTAIYHPGHRLLLVGGCETAELGISKAASCGLSAWRVLSGSPYYKQVTNGGDRVTEVPKTLGLLKLLSVKLSPRLGQEQDGIFKMGLSPDGSLLAAIHFSGKLSIWAIPSLKQQGVWRQDEQPGYNELNPDWRLSPEKRKKVKDKESFYPLIDVNWWADGAVTLARCSGALTVSSAKSLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRVEMRAGEEDEGEVDSDSDPETSAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIDSEDYEEALCLAHTYGLDTDLVYQRQWRKSAVNSASIHNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALVAIGKGVDDGRFTLPGDIDIDSIAYEELSPADKEPSKSKRQEELKKRRDLLKLVNFSKLTLEQKELCRCRLKLLTFLDRLATYEEILGAPHASEQRYDAEFFKKFRSQNIVLSARTYARESNVQALEILLTYHGSHLLPHRLAILSNFPETTSPHEYAVLLPEACWNNDSLTIIPWAEHKHRAEDWCEELECRMVVEPSLQDDSEFLYAAQPELLQYRTPQLTVEKVMAWYQSRAEDIEHHAGQVDCALSLVRLGVERHIPGLLTLCDDLVTLETLVYEAGCDFTLTLKDLQQMKDFEKLRLLMEHCSEDNYVTSAYQWMVPFLHRCEKQSPGAANELLREYLVTLAKGDLKLPLKIFQHSKPDLQQKIIPDEDQLMAIALECIYNCERSDQLSLCYDILECLPQRGCGHNTKVTSSLHDMVDQLEKILSVSELLKTHGLEKPVSFVKNTQSSSEEARSLMVRLTRHTGRKQPSVGESHWRMLLQDMLTMQQHVYTCLDSSACYEIFTESLLCSSRLENIHLAGQMMQCSACLDNPPAGALHKGRAQYRVSYERSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPAAIQEELDLIQALGYLEEFGVKTLPLQVRLCSDRISLIKECVSQSPTCYKQSAKLLGLAELLRVAGEDPEGRRGQVLILLVEQALHVHDYKVASMYCQQLMAAGYPESWAVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLEASSSLQTEILYQRVNFEIHPEGENISASPLPVKVLQEDAAALGSSSADLLHWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLAYLRPYQGQEFGRAYRIGIVANDDLERQGCHPFYESVIANPFVTEVPVESFAEVLLRTGKLTEAQTQVFPTTEVLLQLASDALPNDMTLALAYLLALPQVLDANKCFEKQAHSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRVDPKELIKMVTGHVAQHGHEGWPEDLLSLSRQLHYYSERLLDFTQAQLLQGLRKGVDVQRFTADDQYKRETILGLAESLEENVYSIALSLAQRYSISQWEVFMTHLEFLFSESGLSTGEIEKRAQTLHLFDTLKTDPESFHKHMVKYIYPTIEGLDHERLLYYFTLLESCGCANFETTAIKPEIHIRLLKKFKVVASGLNYKKLTDKSEDALEALEPVLTSQNILSISKLAPRIPGKHGQMLSPSSLYTVWLQKLFWAGDPHLIKQAPESSAEWLHACDVCLKYFDRLCPDDLITVMDAITFSPKAVSKLSVEAREEMTRKAIKTIKHFIEKPRKRNSEEDPQEGRGSQATYPDALAHLETSLAHLETLSHSFILSLRNSEQEILQKYSYFYDLSRSEKEKIHDQAVAMCLDGQPLRMIQQLLEVAIGPVNISPKDIVHTAITQIISALSGGSADLCGSRDPLQVLEGVVGAVRTSVDNGEELVSAEDVLQWLRPFCAEDTYPVRPRIQVLQLLGQSFHLSEEDGKLLVFFRTEAILRAAWPQRQVDIADIENEENRHTLFSELLESSHREVEFQHLILLLQAWPPMKSECVLANNPWVRLVTAMLTRCTEENKQSLGDEVLKICRSLYNTTQMLPVEGVKELCLLLLHQSLLLPSLKLLLESGEESLQAMALEQISAVTKVNDSNCDQELLSLLVDARLLVKCVSTPFYPHIVGHLVANNQQGRWNIEELARHLQEAGHEVEAGSLLLAVQGTHRVFRTFSIALSAVRQWV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/41073", "id": "41073", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2RRP1/", "id": "A2RRP1", "database": "OMA" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "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", "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", "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", "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:0005829", "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:0016020", "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:0005789", "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:0015031", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "protein transport", "id": "GO:0015031" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "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", "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", "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" } ], "total": 4, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 222, "annotation": "n_glycosylation_sequon", "start_pos": 220 }, { "end_pos": 672, "annotation": "n_glycosylation_sequon", "start_pos": 670 }, { "end_pos": 1185, "annotation": "n_glycosylation_sequon", "start_pos": 1183 }, { "end_pos": 1189, "annotation": "n_glycosylation_sequon", "start_pos": 1187 }, { "end_pos": 1382, "annotation": "n_glycosylation_sequon", "start_pos": 1380 }, { "end_pos": 1422, "annotation": "n_glycosylation_sequon", "start_pos": 1420 }, { "end_pos": 1809, "annotation": "n_glycosylation_sequon", "start_pos": 1807 }, { "end_pos": 2250, "annotation": "n_glycosylation_sequon", "start_pos": 2248 }, { "end_pos": 2284, "annotation": "n_glycosylation_sequon", "start_pos": 2282 } ], "crossref": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?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://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15625", "id": "15625", "database": "HGNC" }, { "url": "https://omabrowser.org/oma/group/WWADGAV/", "id": "WWADGAV", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029145", "id": "IPR029145", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013244", "id": "IPR013244", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011044", "id": "IPR011044", "database": "InterPro" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBAS", "id": "NBAS", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/51594", "id": "51594", "database": "GeneID" }, { "url": "http://pfam.xfam.org/family/PF15492", "id": "PF15492", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF08314", "id": "PF08314", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2RRP1", "id": "PR_A2RRP1", "database": "PRO" }, { "url": "https://www.nextprot.org/entry/NX_A2RRP1", "id": "NX_A2RRP1", "database": "neXtProt" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RRP1*", "id": "A2RRP1", "database": "IntAct" } ], "expression_disease": [ { "trend": "Up", "disease": { "doid": "1781", "url": 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