{ "uniprot_canonical_ac": "A4D1E1-1", "sequence": { "header": "sp|A4D1E1-1|Z804B_HUMAN Isoform 1 of Zinc finger protein 804B OS=Homo sapiens OX=9606 GN=ZNF804B PE=2 SV=2 CANONICAL=A4D1E1-1", "length": 1349, "sequence": "MACYLVISSRHLSNGHYRGIKGVFRGPLCKNGSPSPDFAEKKSTAKALEDVKANFYCELCDKQYHKHQEFDNHINSYDHAHKQRLKELKQREFARNVASKSWKDEKKQEKALKRLHQLAELRQQSECVSGNGPAYKAPRVAIEKQLQQGIFPIKNGRKVSCMKSALLLKGKNLPRIISDKQRSTMPNRHQLQSDRRCLFGNQVLQTSSDLSNANHRTGVSFTFSKKVHLKLESSASVFSENTEETHDCNKSPIYKTKQTADKCKCCRFANKDTHLTKEKEVNISPSHLESVLHNTISINSKILQDKHDSIDETLEDSIGIHASFSKSNIHLSDVDFTPTSREKETRNTLKNTLENCVNHPCQANASFSPPNIYNHSDARISECLDEFSSLEPSEQKSTVHLNPNSRIENREKSLDKTERVSKNVQRLVKEACTHNVASKPLPFLHVQSKDGHTTLQWPTELLLFTKTEPCISYGCNPLYFDFKLSRNTKEDHNLEDLKTELGKKPLELKTKRESQVSGLTEDQQKLIQEDYQYPKPKTMIANPDWEKFQRKYNLDYSDSEPNKSEYTFSANDLEMKNPKVPLYLNTSLKDCAGKNNSSENKLKEASRAHWQGCRKAVLNDIDEDLSFPSYISRFKKHKLIPCSPHLEFEDERQFNCKSSPCTVGGHSDHGKDFSVILKSNHISMTSKVSGCGNQRYKRYSPQSCLSRYSSSLDTSPSSMSSLRSTCSSHRFNGNSRGNLLCFHKREHHSVERHKRKCLKHNCFYLSDDITKSSQMQSEPQKERNCKLWESFKNEKYSKRRYCHCRERQKLGKNQQQFSGLKSTRIIYCDSNSQISCTGSSKKPPNCQGTQHDRLDSYSIEKMYYLNKSKRNQESLGSPHICDLGKVRPMKCNSGNISCLLKNCSSGPSETTESNTAEGERTPLTAKILLERVQAKKCQEQSSNVEISSNSCKSELEAPSQVPCTIQLAPSGCNRQALPLSEKIQYASESRNDQDSAIPRTTEKDKSKSSHTNNFTILADTDCDNHLSKGIIHLVTESQSLNIKRDATTKEQSKPLISEIQPFIQSCDPVPNEFPGAFPSNKYTGVTDSTETQEDQINLDLQDVSMHINHVEGNINSYYDRTMQKPDKVEDGLEMCHKSISPPLIQQPITFSPDEIDKYKILQLQAQQHMQKQLLSKHLRVLPAAGPTAFSPASTVQTVPVHQHTSITTIHHTFLQHFAVSASLSSHSSHLPIAHLHPLSQAHFSPISFSTLTPTIIPAHPTFLAGHPLHLVAATPFHPSHITLQPLPPTAFIPTLFGPHLNPATTSIIHLNPLIQPVFQGQDFCHHSCSSQMQQLNEVKEALNVSTHLN" }, "uniprot_id": "Z804B_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "zinc finger protein 804B", "zinc finger 804B" ], "uniprotkb": [ "Zinc finger protein 804B" ] }, "gene": { "refseq": [ "ZNF804B" ], "uniprotkb": [ "ZNF804B" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1E1", "id": "A4D1E1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Zinc finger protein 804B." }, "publication": [ { "title": "Genome-wide association study of HPV-associated cervical cancer in Japanese women.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24700089", "journal": "Journal of medical virology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "id": "NP_857597.1", "database": "RefSeq" } ], "authors": "Miura K, Mishima H, Kinoshita A, Hayashida C, Abe S, Tokunaga K, Masuzaki H, Yoshiura K", "date": "2014", "pmid": "24700089" }, { "title": "Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23382691", "journal": "PLoS genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "id": "NP_857597.1", "database": "RefSeq" } ], "authors": "Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A, Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V, Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I, Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd PM, Hayward C, Aulchenko Y, Campbell H, Rudan I", "date": "2013", "pmid": "23382691" }, { "title": "Novel associations for hypothyroidism include known autoimmune risk loci.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22493691", "journal": "PloS one", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "id": "NP_857597.1", "database": "RefSeq" } ], "authors": "Eriksson N, Tung JY, Kiefer AK, Hinds DA, Francke U, Mountain JL, Do CB", "date": "2012", "pmid": "22493691" }, { "title": "Genome-wide association scan of dental caries in the permanent dentition.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23259602", "journal": "BMC oral health", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "id": "NP_857597.1", "database": "RefSeq" } ], "authors": "Wang X, Shaffer JR, Zeng Z, Begum F, Vieira AR, Noel J, Anjomshoaa I, Cuenco KT, Lee MK, Beck J, Boerwinkle E, Cornelis MC, Hu FB, Crosslin DR, Laurie CC, Nelson SC, Doheny KF, Pugh EW, Polk DE, Weyant RJ, Crout R, McNeil DW, Weeks DE, Feingold E, Marazita ML", "date": "2012", "pmid": "23259602" }, { "title": "A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21079607", "journal": "Molecular psychiatry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "id": "NP_857597.1", "database": "RefSeq" } ], "authors": "Wang K, Zhang H, Bloss CS, Duvvuri V, Kaye W, Schork NJ, Berrettini W, Hakonarson H", "date": "2011", "pmid": "21079607" }, { "title": "Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20966902", "journal": "Obesity (Silver Spring, Md.)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "id": "NP_857597.1", "database": "RefSeq" } ], "authors": "Croteau-Chonka DC, Marvelle AF, Lange EM, Lee NR, Adair LS, Lange LA, Mohlke KL", "date": "2011", "pmid": "20966902" }, { "title": "A Japanese-specific allele in the GALNT11 gene.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20547088", "journal": "Legal medicine (Tokyo, Japan)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "id": "NP_857597.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A4D1E1/publications", "id": "A4D1E1", "database": "UniProtKB" } ], "authors": "Yuasa I, Umetsu K, Matsusue A, Nishimukai H, Harihara S, Fukumori Y, Saitou N, Jin F, Chattopadhyay PK, Henke L, Henke J", "date": "2010", "pmid": "20547088" } ], "glycosylation": [], "mutation": [ { "start_pos": 545, "subjects_positive": "36", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "2.4", "annotation": "Filters passed (2/5): patient freq. (2.4%); patient count (36/1514).", "sequence_org": "W", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "C", "subjects_tested": "1514", "end_pos": 545, "type": "Point mutation" }, { "start_pos": 894, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). 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(1.5%).", "sequence_org": "E", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "K", "subjects_tested": "66", "end_pos": 860, "type": "Point mutation" }, { "start_pos": 315, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "E", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "Q", "subjects_tested": "66", "end_pos": 315, "type": "Point mutation" }, { "start_pos": 102, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "1.3", "annotation": "Filters passed (1/5): patient freq. (1.3%).", "sequence_org": "W", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "S", "subjects_tested": "78", "end_pos": 102, "type": "Point mutation" }, { "start_pos": 998, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "P", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "S", "subjects_tested": "678", "end_pos": 998, "type": "Point mutation" }, { "start_pos": 894, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). 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(1.0%).", "sequence_org": "I", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "sequence_mut": "M", "subjects_tested": "191", "end_pos": 150, "type": "Point mutation" }, { "start_pos": 998, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "P", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "icd10": "", "name": "Skin cancer" }, "sequence_mut": "S", "subjects_tested": "820", "end_pos": 998, "type": "Point mutation" }, { "start_pos": 688, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "V", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "sequence_mut": "A", "subjects_tested": "191", "end_pos": 688, "type": "Point mutation" }, { "start_pos": 341, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "R", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "T", "subjects_tested": "103", "end_pos": 341, "type": "Point mutation" }, { "start_pos": 120, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "2.1", "annotation": "Filters passed (1/5): patient freq. (2.1%).", "sequence_org": "E", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "icd10": "", "name": "Hematologic cancer" }, "sequence_mut": "A", "subjects_tested": "48", "end_pos": 120, "type": "Point mutation" }, { "start_pos": 459, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). 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(2.0%).", "sequence_org": "R", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "M", "subjects_tested": "50", "end_pos": 267, "type": "Point mutation" }, { "start_pos": 894, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs377052292.", "sequence_org": "G", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "icd10": "", "name": "Stomach cancer" }, "sequence_mut": "R", "subjects_tested": "1044", "end_pos": 894, "type": "Point mutation" }, { "start_pos": 91, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%). In dbSNP: rs767801363.", "sequence_org": "R", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "W", "subjects_tested": "103", "end_pos": 91, "type": "Point mutation" }, { "start_pos": 823, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. 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(1.1%).", "sequence_org": "N", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "Y", "subjects_tested": "93", "end_pos": 1108, "type": "Point mutation" }, { "start_pos": 634, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.8", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "F", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "I", "subjects_tested": "129", "end_pos": 634, "type": "Point mutation" }, { "start_pos": 316, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. 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In dbSNP: rs201883364.", "sequence_org": "T", "disease": { "doid": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "icd10": "", "name": "Head and neck cancer" }, "sequence_mut": "M", "subjects_tested": "980", "end_pos": 459, "type": "Point mutation" }, { "start_pos": 634, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "F", "disease": { "doid": "263", "url": "http://disease-ontology.org/term/DOID:263", "icd10": "", "name": "Kidney cancer" }, "sequence_mut": "I", "subjects_tested": "408", "end_pos": 634, "type": "Point mutation" }, { "start_pos": 959, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "S", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "L", "subjects_tested": "94", "end_pos": 959, "type": "Point mutation" }, { "start_pos": 182, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs781202005.", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "W", "subjects_tested": "456", "end_pos": 182, "type": "Point mutation" }, { "start_pos": 125, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "1.4", "annotation": "Filters passed (1/5): patient freq. (1.4%).", "sequence_org": "S", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "F", "subjects_tested": "72", "end_pos": 125, "type": "Point mutation" }, { "start_pos": 182, "subjects_positive": "4", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.6", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs781202005.", "sequence_org": "R", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "W", "subjects_tested": "678", "end_pos": 182, "type": "Point mutation" }, { "start_pos": 459, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs201883364.", "sequence_org": "T", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "M", "subjects_tested": "558", "end_pos": 459, "type": "Point mutation" }, { "start_pos": 998, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "P", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "S", "subjects_tested": "1144", "end_pos": 998, "type": "Point mutation" }, { "start_pos": 182, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs781202005.", "sequence_org": "R", "disease": { "doid": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "icd10": "", "name": "Head and neck cancer" }, "sequence_mut": "W", "subjects_tested": "980", "end_pos": 182, "type": "Point mutation" }, { "start_pos": 643, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "S", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "C", "subjects_tested": "103", "end_pos": 643, "type": "Point mutation" }, { "start_pos": 37, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E1", "id": "A4D1E1", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "D", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "Y", "subjects_tested": "94", "end_pos": 37, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D1E1#A4D1E1-1", "isoform_ac": "A4D1E1-1", "locus": { "end_pos": 88759977, "start_pos": 89337029, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000333190", "id": "ENST00000333190", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000329638", "id": "ENSP00000329638", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D1E1-1|Z804B_HUMAN Isoform 1 of Zinc finger protein 804B OS=Homo sapiens OX=9606 GN=ZNF804B PE=2 SV=2 CANONICAL=A4D1E1-1", "length": 1349, "sequence": "MACYLVISSRHLSNGHYRGIKGVFRGPLCKNGSPSPDFAEKKSTAKALEDVKANFYCELCDKQYHKHQEFDNHINSYDHAHKQRLKELKQREFARNVASKSWKDEKKQEKALKRLHQLAELRQQSECVSGNGPAYKAPRVAIEKQLQQGIFPIKNGRKVSCMKSALLLKGKNLPRIISDKQRSTMPNRHQLQSDRRCLFGNQVLQTSSDLSNANHRTGVSFTFSKKVHLKLESSASVFSENTEETHDCNKSPIYKTKQTADKCKCCRFANKDTHLTKEKEVNISPSHLESVLHNTISINSKILQDKHDSIDETLEDSIGIHASFSKSNIHLSDVDFTPTSREKETRNTLKNTLENCVNHPCQANASFSPPNIYNHSDARISECLDEFSSLEPSEQKSTVHLNPNSRIENREKSLDKTERVSKNVQRLVKEACTHNVASKPLPFLHVQSKDGHTTLQWPTELLLFTKTEPCISYGCNPLYFDFKLSRNTKEDHNLEDLKTELGKKPLELKTKRESQVSGLTEDQQKLIQEDYQYPKPKTMIANPDWEKFQRKYNLDYSDSEPNKSEYTFSANDLEMKNPKVPLYLNTSLKDCAGKNNSSENKLKEASRAHWQGCRKAVLNDIDEDLSFPSYISRFKKHKLIPCSPHLEFEDERQFNCKSSPCTVGGHSDHGKDFSVILKSNHISMTSKVSGCGNQRYKRYSPQSCLSRYSSSLDTSPSSMSSLRSTCSSHRFNGNSRGNLLCFHKREHHSVERHKRKCLKHNCFYLSDDITKSSQMQSEPQKERNCKLWESFKNEKYSKRRYCHCRERQKLGKNQQQFSGLKSTRIIYCDSNSQISCTGSSKKPPNCQGTQHDRLDSYSIEKMYYLNKSKRNQESLGSPHICDLGKVRPMKCNSGNISCLLKNCSSGPSETTESNTAEGERTPLTAKILLERVQAKKCQEQSSNVEISSNSCKSELEAPSQVPCTIQLAPSGCNRQALPLSEKIQYASESRNDQDSAIPRTTEKDKSKSSHTNNFTILADTDCDNHLSKGIIHLVTESQSLNIKRDATTKEQSKPLISEIQPFIQSCDPVPNEFPGAFPSNKYTGVTDSTETQEDQINLDLQDVSMHINHVEGNINSYYDRTMQKPDKVEDGLEMCHKSISPPLIQQPITFSPDEIDKYKILQLQAQQHMQKQLLSKHLRVLPAAGPTAFSPASTVQTVPVHQHTSITTIHHTFLQHFAVSASLSSHSSHLPIAHLHPLSQAHFSPISFSTLTPTIIPAHPTFLAGHPLHLVAATPFHPSHITLQPLPPTAFIPTLFGPHLNPATTSIIHLNPLIQPVFQGQDFCHHSCSSQMQQLNEVKEALNVSTHLN" } }, { "url": "https://www.uniprot.org/uniprot/A4D1E1#A0A087WUA7-1", "isoform_ac": "A0A087WUA7-1", "locus": { "end_pos": 89327344, "start_pos": 89337029, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000611114", "id": "ENST00000611114", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000478506", "id": "ENSP00000478506", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A087WUA7-1|Z804B_HUMAN Computationally mapped isoform of Zinc finger protein 804B OS=Homo sapiens OX=9606 GN=ZNF804B PE=2 SV=1 CANONICAL=A4D1E1-1", "length": 1266, "sequence": "RLKELKQREFARNVASKSWKDEKKQEKALKRLHQLAELRQQSECVSGNGPAYKAPRVAIEKQLQQGIFPIKNGRKVSCMKSALLLKGKNLPRIISDKQRSTMPNRHQLQSDRRCLFGNQVLQTSSDLSNANHRTGVSFTFSKKVHLKLESSASVFSENTEETHDCNKSPIYKTKQTADKCKCCRFANKDTHLTKEKEVNISPSHLESVLHNTISINSKILQDKHDSIDETLEDSIGIHASFSKSNIHLSDVDFTPTSREKETRNTLKNTLENCVNHPCQANASFSPPNIYNHSDARISECLDEFSSLEPSEQKSTVHLNPNSRIENREKSLDKTERVSKNVQRLVKEACTHNVASKPLPFLHVQSKDGHTTLQWPTELLLFTKTEPCISYGCNPLYFDFKLSRNTKEDHNLEDLKTELGKKPLELKTKRESQVSGLTEDQQKLIQEDYQYPKPKTMIANPDWEKFQRKYNLDYSDSEPNKSEYTFSANDLEMKNPKVPLYLNTSLKDCAGKNNSSENKLKEASRAHWQGCRKAVLNDIDEDLSFPSYISRFKKHKLIPCSPHLEFEDERQFNCKSSPCTVGGHSDHGKDFSVILKSNHISMTSKVSGCGNQRYKRYSPQSCLSRYSSSLDTSPSSMSSLRSTCSSHRFNGNSRGNLLCFHKREHHSVERHKRKCLKHNCFYLSDDITKSSQMQSEPQKERNCKLWESFKNEKYSKRRYCHCRERQKLGKNQQQFSGLKSTRIIYCDSNSQISCTGSSKKPPNCQGTQHDRLDSYSIEKMYYLNKSKRNQESLGSPHICDLGKVRPMKCNSGNISCLLKNCSSGPSETTESNTAEGERTPLTAKILLERVQAKKCQEQSSNVEISSNSCKSELEAPSQVPCTIQLAPSGCNRQALPLSEKIQYASESRNDQDSAIPRTTEKDKSKSSHTNNFTILADTDCDNHLSKGIIHLVTESQSLNIKRDATTKEQSKPLISEIQPFIQSCDPVPNEFPGAFPSNKYTGVTDSTETQEDQINLDLQDVSMHINHVEGNINSYYDRTMQKPDKVEDGLEMCHKSISPPLIQQPITFSPDEIDKYKILQLQAQQHMQKQLLSKHLRVLPAAGPTAFSPASTVQTVPVHQHTSITTIHHTFLQHFAVSASLSSHSSHLPIAHLHPLSQAHFSPISFSTLTPTIIPAHPTFLAGHPLHLVAATPFHPSHITLQPLPPTAFIPTLFGPHLNPATTSIIHLNPLIQPVFQGQDFCHHSCSSQMQQLNEVKEALNVSTHLN" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:219578", "resource": "KEGG Pathway", "id": "hsa:219578", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436", "resource": "Reactome", "id": "R-HSA-212436", "name": "Generic Transcription Pathway" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "id": "NP_857597.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "annotation": "Observational study of genotype prevalence. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "id": "NP_857597.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "F1M1B9-1", "protein_name": "Uncharacterized protein.", "sequence": { "length": 1264, "sequence": "QRLKELKHREFARNVASKSWKDERKQEKALKRLHQLAEMRQQSECVSGNGPAYKTPRIAMEKQLQQGIFPVKNGRKVSCMKSALLKGKNVPRSTMEKQRPAMPNRQQLQSDRQHLFGNLITQTSSDLSNANHRTGVSFSFSKKAYLKLESSASVFSENTDDAHDCNKSPTYKVKRTVEKCKCCRLAKEGADLGADLTKEEGVLSSNHLEGVLNNTFLMNSKISHNKHEPINRRLKHSGIHAVFSKSHFHVSERELTLSSREKEIKNALRNTSENCTSHRCQANESSSPLNIYRHSDSRWCECPDEFLPSGPSEQKTQAHRIPNSRTEDRTKSLDKMERMSKNVQRLCREDCSHDLKSKPLSFLRVQSKDGHTTLQWPTELLFFTRTEPCISYGCNPLYFDFKLSRNTKDERNSKNIETELVTEALEVKTKTESQVSGLIKEQEKSTQENQSLKPKMIMANPDWGTFQRKYSLDSIDSDSTVSEHASLRDLEMESPEVPAYLNLSLKDGLGNNDADDTEFTEVSNAHWQSCKRTIRNNACAGLSFSPHISRTKNHKRNSHSPRSEFEEENQHTWNLSLYTSGDHSEHGKDTGASLSSCDISTASRASTSRKASYDRYSPVSPLRAHPRTVHESSRNMSSWRNMCTNHRSKGSNSSHLLYFCKRECDPVERHVCTHRKHNSLYMSDVPLYGHCTQSETQRDGSGKLSDSFKTKKRSKHRDHHCRERYKLSKNQQSVGPKLPRIFHCDSASRLSIEETSEKSLNGRELQHSKLASYLRQRAYCLNKNKRSQKSLAGLHIGGAGKVKCRRCNSGTPNYLLRSCTDGPSETTQSNIPDGEGTSLTAKGLLERVQAKKCQEQSTKLELSSSSCLKESQTHLQTQCTTQRGPPSCRGAALPFSKRRQHIGKRKNDKGNMVHKTSDNDKVKNSQKSNSTILSATECDNYLSKGISDSVTDSHSLSRRNNHTAKEPSKSSISEVQPFLQSCDPVPNDFLGAFPSNKYTGVTDSTETKDDQINLDSEGVSMSVNHVEGNINSYYDRAMQKHDKMEDELEECHKSLSPPLIQQPITFSPDEVDKYKLLQLQAQQHMQKQLLSKHLRVLPAAGSTAFSPASAVQTVPVHQHTSITTIHHTFLQHFAVSASISSHSSPLPVAHLHPLSQPHFTPISFSTMAPTIIPGHPTFLGHPLHLVTAAPFHPSHMTFPPLPSAAFIPTLFGPHLNPATTSIFHLNPLIQPVLQGQDLCHLSCSSQMQQLSSVKETLNMAVHLN" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4D1E1/", "id": "A4D1E1", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "A0A0G2JGH6-1", "protein_name": "Zinc finger protein 804B.", "sequence": { "length": 1343, "sequence": "MACYLVISSRHLSNGHYRGIKGVFRGPLCKNGSPSPDFAEKEKSTAKSLEDAKANFYCELCDKQYNKHQEFDNHINSYDHAHKQRLKELKHREFARNVASKSWKDEKKQEKALKRLHQLAELRQQSECVSGNGPAYKTPRIAMEKQLQQGIFPVKNGRKVSCMKSAVFKGKNVPRSSMDKERSAMPNRHQLQSDRRHLFGNMITQTSSDLSNANHRTGVSFSFSKKAYLKLESSASVFSENTDDTHDCSKSPTYKVKRTVENCKCGRFASNDADLMKEEAVLSASNLEGFLNTSSMNSKISQNKHESINGRLKDAAGTHMAFSKSHFHVSERDCTLSSREKEIRNALKDTSENCINHPCQANESSSPLNIYKHSDSRWCECLDEFLPSGPSEKKTQAHRIPNSRMEARAKSSDESERVGKNVQRHCREDCPHDLKSKPLPFLRVQSKDGHTTLQWPTELLFFTRTEPCISYGCNPLYFDFKLSRNTKDECNSENVQTELEKKALEIKTKPESQVTDLIKEQEKLTQDNQSLKPKMSVANLDWEKFQRKYNLDYNDSDSSVSEHASLRDLEMKSPEVPAYLKLSLKDGLGNNNVDDIELMEPSNIHWQSCKRTVHNNALGGLSFSPHISRTKNHKLNPCSMQSEFEEENQHIWNFSPYTSGDHSEYGKDRGVSLNTCNINMARRASTSGEPSYERYSPVSPLRAHPRTVDESSRNMSSWRNTCTSHRSKGSNSSHKLCFCKRECDSVERHTWKHRKHNCLYMADVRLSSNCPQSETQKDKNGKISDSFKTKKRSKHRDCHCRERYKLGKNQQFSEPKPPGIFHCDSGSQVSIDGNGGKTFNGQESQHNKLKSYLRQRAYCLNKNNKSQKSLASLHFGDVGKVKCRQCNSSTANYLLRSCRGGPSEATQSNIAVGEGPSLTAKGLLERVKAKKCQEQSTKFEISSNSCLKEFHTHSQIQCTTPPGPPCCRRTVLPFSKKRQHIGKRKNEKGNKVHKTSDNDKGKNLQKINSTILTDTECDNYLSKGINGLVTDSQSLSRKNNQTTKEKSKSSVIEVQPFLQSYDPVPNDFLGAFSSNRYTGVTDSTETKEDQINLDLEDVSMSVNHVEGNINSYYDRAVQKHDKMEDELEVCHKSLSPPLIQQPITFSPDEIDKYRLLQLQAQQHVQKQLLARPLRVLPAAGPTAFSPASAVQTVPVHQHTSITTIHHTFLQHFAVSASISSHSSPLPIAHLHPLSQPHFTPISFSTIAPTIIPGHPTFLGHPLHLVAAAPFHPSHMTLQPLPSAAFIPTLFGPHLNPATTSIFHLNPLIQPVLQGQDLYHHSCSSQMQQLNSVKEALNMAVHLN" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/52304", "id": "52304", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A4D1E1/", "id": "A4D1E1", "database": "OMA" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "ac": "NP_857597.1", "name": "zinc finger protein 804B; zinc finger 804B.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1E1", "id": "A4D1E1", "database": "UniProtKB" } ], "name": "metal ion binding", "id": "GO:0046872" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1E1", "id": "A4D1E1", "database": "UniProtKB" } ], "name": "nucleic acid binding", "id": "GO:0003676" } ], "total": 2, "name": "Molecular Function" } ] }, "site_annotation": [ { "end_pos": 33, "annotation": "n_glycosylation_sequon", "start_pos": 31 }, { "end_pos": 251, "annotation": "n_glycosylation_sequon", "start_pos": 249 }, { "end_pos": 284, "annotation": "n_glycosylation_sequon", "start_pos": 282 }, { "end_pos": 366, "annotation": "n_glycosylation_sequon", "start_pos": 364 }, { "end_pos": 376, "annotation": "n_glycosylation_sequon", "start_pos": 374 }, { "end_pos": 564, "annotation": "n_glycosylation_sequon", "start_pos": 562 }, { "end_pos": 587, "annotation": "n_glycosylation_sequon", "start_pos": 585 }, { "end_pos": 597, "annotation": "n_glycosylation_sequon", "start_pos": 595 }, { "end_pos": 598, "annotation": "n_glycosylation_sequon", "start_pos": 596 }, { "end_pos": 868, "annotation": "n_glycosylation_sequon", "start_pos": 866 }, { "end_pos": 897, "annotation": "n_glycosylation_sequon", "start_pos": 895 }, { "end_pos": 904, "annotation": "n_glycosylation_sequon", "start_pos": 902 }, { "end_pos": 1015, "annotation": "n_glycosylation_sequon", "start_pos": 1013 }, { "end_pos": 1345, "annotation": "n_glycosylation_sequon", "start_pos": 1343 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857597.1", "id": "NP_857597.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=21958", "id": "21958", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A4D1E1", "id": "A4D1E1", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A4D1E1", "id": "NX_A4D1E1", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF804B", "id": "ZNF804B", "database": "GeneCards" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212436", "id": "R-HSA-212436", "database": "Reactome" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:219578", "id": "hsa:219578", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182348", "id": "ENSG00000182348", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/FQGQDLC/", "id": "FQGQDLC", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013087", "id": "IPR013087", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036236", "id": "IPR036236", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR022755", "id": "IPR022755", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF12171", "id": "PF12171", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A4D1E1", "id": "PR_A4D1E1", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A4D1E1*", "id": "A4D1E1", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/219578", "id": "219578", "database": "GeneID" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1E1", "id": "A4D1E1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1E1", "id": "A4D1E1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1E1", "id": "A4D1E1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1E1", "id": "A4D1E1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1E1", "id": "A4D1E1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1E1", "id": "A4D1E1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": 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