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"http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q14CW9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q14CW9" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": 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"" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q14CW9" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"start_pos": 44195107, "end_pos": 44194542, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590537.5", "url": "https://www.ensembl.org/id/ENST00000590537.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465210.1", "url": "https://www.ensembl.org/id/ENSP00000465210.1" } ] } }, { "isoform_ac": "K7EKG9-1", "url": "", "sequence": { "sequence": "MKMEEMSLSGLDNSKLEAIAQEIYADLVEDSCLGFCFEVHRAVKCGYFFLDDTDPDSMKDFEIVDQPGLDIFGQVFNQWKSKECVCPNCSRSIAASRFAPHLEKCLGMGRNSSRIANRRIANSNNMNKSESDQEDNDDINDNDWSYGSEKKAKKRKSDKNPNSPRRSKSLKHKNGELSNSDPFKYNNSTGISYETLGPEELRSLLTTQCGVISEHTKKMCTRSLRCPQHTDEQRRTVRIYFLGPSAVLPEVESSLDNDSFDMTDSQALISRLQWDGSSDLSPSDSGSSKTSENQGWGLGTNSSESRKT", "length": 308, "header": "tr|K7EKG9-1|AT7L3_HUMAN Computationally mapped isoform of Ataxin-7-like protein 3 OS=Homo sapiens OX=9606 GN=ATXN7L3 PE=1 SV=1 CANONICAL=Q14CW9-1" }, "locus": { "chromosome": "17", "start_pos": 44198070, "end_pos": 44194266, "strand": "+", "evidence": [ { "database": "Ensembl 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mapped isoform of Ataxin-7-like protein 3 OS=Homo sapiens OX=9606 GN=ATXN7L3 PE=1 SV=1 CANONICAL=Q14CW9-1" }, "locus": { "chromosome": "17", "start_pos": 44198070, "end_pos": 44196942, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590169.5", "url": "https://www.ensembl.org/id/ENST00000590169.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467153.1", "url": "https://www.ensembl.org/id/ENSP00000467153.1" } ] } }, { "isoform_ac": "Q14CW9-1", "url": "", "sequence": { "sequence": "MKMEEMSLSGLDNSKLEAIAQEIYADLVEDSCLGFCFEVHRAVKCGYFFLDDTDPDSMKDFEIVDQPGLDIFGQVFNQWKSKECVCPNCSRSIAASRFAPHLEKCLGMGRNSSRIANRRIANSNNMNKSESDQEDNDDINDNDWSYGSEKKAKKRKSDKNPNSPRRSKSLKHKNGELSNSDPFKYNNSTGISYETLGPEELRSLLTTQCGVISEHTKKMCTRSLRCPQHTDEQRRTVRIYFLGPSAVLPEVESSLDNDSFDMTDSQALISRLQWDGSSDLSPSDSGSSKTSENQGWGLGTNSSESRKTKKKKSHLSLVGTASGLGSNKKKKPKPPAPPTPSIYDDIN", "length": 347, "header": "sp|Q14CW9-1|AT7L3_HUMAN Isoform 1 of Ataxin-7-like protein 3 OS=Homo sapiens OX=9606 GN=ATXN7L3 PE=1 SV=1 CANONICAL=Q14CW9-1" }, "locus": { "chromosome": "17", "start_pos": 44198070, "end_pos": 44194266, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000389384.8", "url": "https://www.ensembl.org/id/ENST00000389384.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000374035.3", "url": "https://www.ensembl.org/id/ENSP00000374035.3" } ] } }, { "isoform_ac": "Q14CW9-2", "url": "", "sequence": { "sequence": "MKMEEMSLSGLDNSKLEAIAQEIYADLVEDSCLGFCFEVHRAVKCGYFFLDDTDPDSMKDFEIVDQPGLDIFGQVFNQWKSKECVCPNCSRSIAASRFAPHLEKCLGMGRNSSRIANRRIANSNNMNKSESDQEDNDDINDNDWSYGSEKKAKKRKSDKLWYLPFQNPNSPRRSKSLKHKNGELSNSDPFKYNNSTGISYETLGPEELRSLLTTQCGVISEHTKKMCTRSLRCPQHTDEQRRTVRIYFLGPSAVLPEVESSLDNDSFDMTDSQALISRLQWDGSSDLSPSDSGSSKTSENQGWGLGTNSSESRKTKKKKSHLSLVGTASGLGSNKKKKPKPPAPPTPSIYDDIN", "length": 354, "header": "sp|Q14CW9-2|AT7L3_HUMAN Isoform 2 of Ataxin-7-like protein 3 OS=Homo sapiens OX=9606 GN=ATXN7L3 PE=1 SV=1 CANONICAL=Q14CW9-1" }, "locus": { "chromosome": "17", "start_pos": 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Cell", "date": "2008", "authors": "Zhao Y, Lang G, Ito S, Bonnet J, Metzger E, Sawatsubashi S, Suzuki E, Le Guezennec X, Stunnenberg HG, Krasnov A, Georgieva SG, Schule R, Takeyama K, Kato S, Tora L, Devys D", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "reference": [ { "type": "PubMed", "id": "18206972", "url": "https://glygen.org/publication/PubMed/18206972" } ] }, { "title": "Molecular basis of histone H3K4me3 recognition by ING4.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Palacios A, Munoz IG, Pantoja-Uceda D, Marcaida MJ, Torres D, Martin-Garcia JM, Luque I, Montoya G, Blanco FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "18381289", "url": "https://glygen.org/publication/PubMed/18381289" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q14CW9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14CW9" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "The crystal structure of the ING5 PHD finger in complex with an H3K4me3 histone peptide.", "journal": "Proteins", "date": "2008", "authors": "Champagne KS, Saksouk N, Pena PV, Johnson K, Ullah M, Yang XJ, Cote J, Kutateladze TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "18623064", "url": "https://glygen.org/publication/PubMed/18623064" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" }, { "database": "iPTMnet", "id": "Q14CW9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14CW9" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Mol. 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"Molecular Function", "total": 4, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "pmid": "" }, { "name": "nuclear receptor coactivator activity", "id": "GO:0030374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030374", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "pmid": "" }, { "name": "monoubiquitinated histone H2A deubiquitination", "id": "GO:0035522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035522", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "pmid": "" }, { "name": "histone deubiquitination", "id": "GO:0016578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016578", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "pmid": "" }, { "name": "histone H3 acetylation", "id": "GO:0043966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043966", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": "https://www.uniprot.org/uniprot/Q14CW9" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q14CW9", "url": 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