{ "uniprot_canonical_ac": "Q8IRW8-1", "uniprot_ac": "Q8IRW8", "uniprot_id": "TRR_DROME", "mass": { "chemical_mass": 259828.0, "monoisotopic_mass": 259828.0 }, "refseq": { "ac": "NP_525040", "name": "trithorax-related, isoform C", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_525040" }, "gene_names": [ { "name": "trr", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8IRW8", "id": "Q8IRW8" }, { "name": "CG3848", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IRW8", "id": "Q8IRW8" }, { "name": "KMT2C", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IRW8", "id": "Q8IRW8" }, { "name": "anon-2Bb; CG3848; Dmel\\CG3848; dmll3/4; EG:63B12.3; Trr; TRR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_525040", "id": "NP_525040" }, { "name": "trr", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_525040", "id": "NP_525040" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase trr", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8IRW8" }, { "name": "2.1.1.354", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IRW8" }, { "name": "CG3848-PC; trr-PC; trithorax related; Trithorax-related; Trx-related; trithorax-related protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_525040", "id": "NP_525040" }, { "name": "Lysine N-methyltransferase 2C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IRW8" }, { "name": "Trithorax-related protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IRW8" }, { "name": "trithorax-related, isoform C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_525040", "id": "NP_525040" } ], "function": [ { "annotation": "Histone methyltransferase that acts as a coactivator for the ecdysone receptor during development. Specifically trimethylates 'Lys-4' of histone H3, a specific tag for epigenetic transcriptional activation. Recruited by EcR in an ecdysone-dependent manner causing H3 'Lys-4' trimethylation at ecdysone-inducible promoters, leading to activate expression. Plays a central role in the developing compound eye, during the progression of the morphogenetic furrow and in post-furrow differentiation of the retinal epithelium, notably by activating expression of hh. Also required for wing and abdominal development.", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprot/Q8IRW8#function" }, { "database": "PubMed", "id": "14603321", "url": "https://glygen.org/publication/PubMed/14603321" }, { "database": "PubMed", "id": "23197473", "url": "https://glygen.org/publication/PubMed/23197473" } ] } ], "disease": [ { "disease_id": "DOID:0050866", "recommended_name": { "id": "DOID:0050866", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells." }, "synonyms": [ { "id": "DOID:0050866", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050866", "name": "mouth squamous cell carcinoma", "description": "" } ], "evidence": [ { "id": "0050866", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ] }, { "disease_id": "DOID:0060473", "recommended_name": { "id": "DOID:0060473", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060473", "name": "Kabuki syndrome", "description": "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects." }, "synonyms": [ { "id": "DOID:0060473", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060473", "name": "KMS", "description": "" }, { "id": "DOID:0060473", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060473", "name": "Kabuki make up syndrome", "description": "" }, { "id": "DOID:0060473", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060473", "name": "Niikawa-Kuroki syndrome", "description": "" }, { "id": "MONDO:0010465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010465", "name": "Kabuki syndrome 2", "description": "" }, { "id": "MONDO:0010465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010465", "name": "Kabuki syndrome 2", "description": "" }, { "id": "MONDO:0010465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010465", "name": "Kabuki syndrome 2, X-linked dominant", "description": "" }, { "id": "MONDO:0010465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010465", "name": "Kabuki syndrome type 2", "description": "" }, { "id": "MONDO:0010465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010465", "name": "KABUK2", "description": "" }, { "id": "MONDO:0010465", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010465", "name": "KABUKI syndrome 2", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "Kabuki syndrome 1", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "Kabuki syndrome 1", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "Kabuki syndrome type 1", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "KABUK1", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "KABUKI syndrome 1", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "Kabuki make-Up syndrome", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "Kabuki syndrome", "description": "" }, { "id": "MONDO:0007843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007843", "name": "Niikawa-Kuroki syndrome", "description": "" }, { "id": "MIM:300867", "resource": "MIM", "url": "https://www.omim.org/entry/300867", "name": "Kabuki syndrome 2", "description": "Kabuki syndrome 2" }, { "id": "MIM:147920", "resource": "MIM", "url": "https://www.omim.org/entry/147920", "name": "Kabuki syndrome 1", "description": "Kabuki syndrome 1" } ], "evidence": [ { "id": "0060473", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060473" } ] }, { "disease_id": "DOID:0080202", "recommended_name": { "id": "DOID:0080202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080202", "name": "adenoid cystic carcinoma", "description": "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells." }, "synonyms": [], "evidence": [ { "id": "0080202", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "disease_id": "DOID:0080598", "recommended_name": { "id": "DOID:0080598", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080598", "name": "Kleefstra syndrome 2", "description": "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36." }, "synonyms": [ { "id": "MONDO:0054701", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054701", "name": "Kleefstra syndrome 2", "description": "" }, { "id": "MONDO:0054701", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054701", "name": "Kleefstra syndrome 2", "description": "" }, { "id": "MONDO:0054701", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054701", "name": "KLEFS2", "description": "" }, { "id": "MIM:617768", "resource": "MIM", "url": "https://www.omim.org/entry/617768", "name": "Kleefstra syndrome 2", "description": "Kleefstra syndrome 2" } ], "evidence": [ { "id": "0080598", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080598" } ] }, { "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": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "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": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": 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of stomach", "description": "" }, { "id": "DOID:3717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3717", "name": "stomach adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3717", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ] }, { "disease_id": "DOID:3748", "recommended_name": { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus." }, "synonyms": [ { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "SCC of esophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "SCC of oesophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "oesophagus squamous cell carcinoma", "description": "" } ], "evidence": [ { "id": "3748", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ] }, { "disease_id": "DOID:3907", "recommended_name": { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." }, "synonyms": [ { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "evidence": [ { "id": "3907", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ] }, { "disease_id": "DOID:3908", "recommended_name": { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." }, "synonyms": [ { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "NSCLC", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "Non-small cell lung cancer", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "non-small cell lung carcinoma", "description": "" } ], "evidence": [ { "id": "3908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ] }, { "disease_id": "DOID:3910", "recommended_name": { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3910", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ] }, { "disease_id": "DOID:3969", "recommended_name": { "id": "DOID:3969", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3969", "name": "thyroid gland papillary carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland." }, "synonyms": [ { "id": "DOID:3969", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3969", "name": "Papillary carcinoma of the Thyroid gland", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, type 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "NMTC1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "familial nonmedullary thyroid cancer, papillary", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "nonmedullary thyroid carcinoma, papillary", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "papillary carcinoma of thyroid", "description": "" }, { "id": "MIM:188550", "resource": "MIM", "url": "https://www.omim.org/entry/188550", "name": "Thyroid cancer, non-medullary, 1", "description": "Thyroid cancer, non-medullary, 1" } ], "evidence": [ { "id": "3969", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ] }, { "disease_id": "DOID:4927", "recommended_name": { "id": "DOID:4927", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4927", "name": "Klatskin's tumor", "description": "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts." }, "synonyms": [ { "id": "DOID:4927", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4927", "name": "Klatskin tumor", "description": "" }, { "id": "DOID:4927", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4927", "name": "Klatskin tumour", "description": "" }, { "id": "DOID:4927", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4927", "name": "Klatskin's tumour", "description": "" }, { "id": "DOID:4927", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4927", "name": "Perihilar extrahepatic bile duct carcinoma", "description": "" }, { "id": "DOID:4927", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4927", "name": "hilar cholangiocarcinoma", "description": "" }, { "id": "DOID:4927", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4927", "name": "hilar cholangiocellular carcinoma", "description": "" } ], "evidence": [ { "id": "4927", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4927" } ] }, { "disease_id": "DOID:5409", "recommended_name": { "id": "DOID:5409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung carcinoma", "description": "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma (morphologic abnormality)", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "poorly differentiated endocrine neoplasm", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell neuroendocrine carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell lung carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell cancer of the lung, somatic", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung cancer", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small-cell cancer of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC1", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell cancer of the lung", "description": "" } ], "evidence": [ { "id": "5409", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ] }, { "disease_id": "DOID:5517", "recommended_name": { "id": "DOID:5517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:5517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5517", "name": "cancer of the stomach", "description": "" }, { "id": "DOID:5517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5517", "name": "carcinoma of stomach", "description": "" }, { "id": "DOID:5517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5517", "name": "gastric carcinoma", "description": "" } ], "evidence": [ { "id": "5517", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ] }, { "disease_id": "DOID:903", "recommended_name": { "id": "DOID:903", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:903", "name": "gastrointestinal lymphoma", "description": "" }, "synonyms": [], "evidence": [ { "id": "903", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:903" } ] }, { "disease_id": "DOID:9261", "recommended_name": { "id": "DOID:9261", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract." }, "synonyms": [ { "id": "DOID:9261", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9261", "name": "Nasopharyngeal carcinoma", "description": "" }, { "id": "DOID:9261", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9261", "name": "malignant Nasopharyngeal tumor", "description": "" }, { "id": "DOID:9261", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9261", "name": "malignant neoplasm of nasopharynx", "description": "" }, { "id": "DOID:9261", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9261", "name": "nasopharynx cancer", "description": "" }, { "id": "MONDO:0008067", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008067", "name": "nasopharyngeal carcinoma, susceptibility to, 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45888:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00856", "url": "http://pfam.xfam.org/family/PF00856", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF05964", "url": "http://pfam.xfam.org/family/PF05964", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF05965", "url": "http://pfam.xfam.org/family/PF05965", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13832", "url": "http://pfam.xfam.org/family/PF13832", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q8IRW8", "url": "http://purl.obolibrary.org/obo/PR_Q8IRW8", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_525040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_525040", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "60260", "url": "https://www.rhea-db.org/rhea/60260", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprot/Q8IRW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IRW8-1", "url": "https://www.uniprot.org/uniprot/Q8IRW8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IRW8-2", "url": "https://www.uniprot.org/uniprot/Q8IRW8-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNIPKVTTSLGAAEKAKPERVASVAAAAFNAVSLQKRSGDDTATPAEDPTRKKAKTELLLGTGTAAPSLPAKASSTAPQQLLYQRSGQQAKAQVKAASEPQDVETADGVWDARDQQIIVCNFGSGTEMGAIKAEDADKQSEYRISTPRNSQSNPLLHRNTAFTSFTKKEGASSSASSSSSTASVISIEPSGSGQDHAENSGKSEDLDYVLMPASGADSSTSVGNSTGTGTPAGTPIGATTSTIILNANNGTAGVSGAGTTTILTQKSGHTNYNIFNTTATGSQTPTTTLLNRVNLHPKMKTQLMVNAKKLSEVTQTTAKVSIGNKTISVPLLKPLMSASGAATAGGATIVESKQLLQPGGQVTTVMSAAQQSGGQQVHPHVHSHAHHNFTKLIKRGPKNSGTIVSFSGLQIKPANTKIVATKVVSKKMLQLQQHQQQIQQQQQLQQLQVTSGGGLAPPTGSIVTITTTNPSQTYAMVQDSATVGPAAHSEDDAPAPRKITAYSENLQKILNKSKSQESTGGPEEFTNINSVVIKPLDKNTLNCPPSFNIFKQQQHSQAAQSQSISAVGSGAGTPVTFTMASGNASDLATTSTVSVSAGTICINSPMMGTRPIISIQNKNISLVLSKTTMAQQKPKMITTTTLSSQAALQMHHALIQDSSADKAGSSANSGSATSGASMQLKLTTANTPTKLSVSLAPDVVKLEEVGSESKAKLLVKQEAVVKDSTGTPTSEERAEEIGTPEKRLNANATMTAINQVQNQSANQIQMATSTSTASNPSTPNPTVNATPMNNQRSAAEDNALLKQLLQNNSSSHSLNQISITSAHVGSASASAPLSARKVINVRAPSMGKVRSLEDQLARPVIPPVPTATQAAGSSSSSGSVATSTTTTTVASGGSSQQVATASATALPVSAVAITTPGVGGEAKLEQKSDQPAAIMQNQSQNQAPPPPPPPQQQQQQQLHQPQQLQPSPHQVKQTVQIVSKETSFISGPVAAKTLVTEATSKPAELLPPPPYEMATAPISNVTISISTKQAAPKELQMKPKAVAMSLPMEQGDESLPEQAEPPLHSEQGATAAGVAPHSGGPLVSAQWTNNHLEGGVATTKIPFKPGEPQKRKLPMHPQLDEKQIQQQAEIPISTSLPTTPTGQGTPDKVQLISAIATYVKKSGVPNEAQPIQNQSQGQVQMQAQMQATMQGHLSGQMSGQISGHAAGQIPAQMHLQVQHQLHMAVHPQQQQQQLHQNQPQNATIPLPVTGQGAVPIPVPTMESKAGDQRKRRKREVQKPRRTNLNAGQAGGALKDLTGPLPAGAMVQLAGMPPGTQYIQGAASGTGHVITSTGQGVTLGGVGASTGASSSPMLKKRVRKFSKVEEDHDAFTEKLLTHIRQMQPLQVLEPHLNRNFHFLIGSNETSGGGSPASMSSAASAGSSSAGGGKLKGGSRGWPLSRHLEGLEDCDGTVLGRYGRVNLPGIPSLYDSERFGGSRGLVGGSARTRSPSPAESPGAEKMLPMSSIQNDFYDQEFSTHMERNPRERLVRHIGAVKDCNLETVDLVESEGVAAWATLPRLTRYPGLILLNGNSRCHGRMSPVALPEDPLTMRFPVSPLLRSCGEELRKTQQMELGMGPLGNNNNNNYQQKNQNVILALPASASENIAGVLRDLANLLHLAPALTCKIIEDKIGNKLEDQFMNQDDEKHVDFKRPLSQVSHGHLRKILNGRRKLCRSCGNVVHATGLRVPRHSVPALEEQLPRLAQLMDMLPRKSVPPPFVYFCDRACFARFKWNGKDGQAEAASLLLQPAGGSAVKSSNGDSPGSFCASSTAPAEMVVKQEPEDEDEKTPSVPGNPTNIPAQRKCIVKCFSADCFTTDSAPSGLELDGTAGAGTGAGPVNNTVWETETSGLQLEDTRQCVFCNQRGDGQADGPSRLLNFDVDKWVHLNCALWSNGVYETVSGALMNFQTALQAGLSQACSACHQPGATIKCFKSRCNSLYHLPCAIREECVFYKNKSVHCSVHGHAHAGITMGAGAGATTGAGLGGSVADNELSSLVVHRRVFVDRDENRQVATVMHYSELSNLLRVGNMTFLNVGQLLPHQLEAFHTPHYIYPIGYKVSRYYWCVRRPNRRCRYICSIAEAGCKPEFRIQVQDAGDKEPEREFRGSSPSAVWQQILQPITRLRKVHKWLQLFPQHISGEDLFGLTEPAIVRILESLPGIETLTDYRFKYGRNPLLEFPLAINPSGAARTEPKQRQLLVWRKPHTQRTAGSCSTQRMANSAAIAGEVACPYSKQFVHSKSSQYKKMKQEWRNNVYLARSKIQGLGLYAARDIEKHTMIIEYIGEVIRTEVSEIREKQYESKNRGIYMFRLDEDRVVDATLSGGLARYINHSCNPNCVTEIVEVDRDVRIIIFAKRKIYRGEELSYDYKFDIEDESHKIPCACGAPNCRKWMN", "length": 2431, "header": "sp|Q8IRW8-1|TRR_DROME Isoform 1 of Histone-lysine N-methyltransferase trr OS=Drosophila melanogaster OX=7227 GN=trr PE=1 SV=2 CANONICAL=Q8IRW8-1" }, "isoforms": [ { "isoform_ac": "Q8IRW8-1", "url": "", "sequence": { "sequence": "MNIPKVTTSLGAAEKAKPERVASVAAAAFNAVSLQKRSGDDTATPAEDPTRKKAKTELLLGTGTAAPSLPAKASSTAPQQLLYQRSGQQAKAQVKAASEPQDVETADGVWDARDQQIIVCNFGSGTEMGAIKAEDADKQSEYRISTPRNSQSNPLLHRNTAFTSFTKKEGASSSASSSSSTASVISIEPSGSGQDHAENSGKSEDLDYVLMPASGADSSTSVGNSTGTGTPAGTPIGATTSTIILNANNGTAGVSGAGTTTILTQKSGHTNYNIFNTTATGSQTPTTTLLNRVNLHPKMKTQLMVNAKKLSEVTQTTAKVSIGNKTISVPLLKPLMSASGAATAGGATIVESKQLLQPGGQVTTVMSAAQQSGGQQVHPHVHSHAHHNFTKLIKRGPKNSGTIVSFSGLQIKPANTKIVATKVVSKKMLQLQQHQQQIQQQQQLQQLQVTSGGGLAPPTGSIVTITTTNPSQTYAMVQDSATVGPAAHSEDDAPAPRKITAYSENLQKILNKSKSQESTGGPEEFTNINSVVIKPLDKNTLNCPPSFNIFKQQQHSQAAQSQSISAVGSGAGTPVTFTMASGNASDLATTSTVSVSAGTICINSPMMGTRPIISIQNKNISLVLSKTTMAQQKPKMITTTTLSSQAALQMHHALIQDSSADKAGSSANSGSATSGASMQLKLTTANTPTKLSVSLAPDVVKLEEVGSESKAKLLVKQEAVVKDSTGTPTSEERAEEIGTPEKRLNANATMTAINQVQNQSANQIQMATSTSTASNPSTPNPTVNATPMNNQRSAAEDNALLKQLLQNNSSSHSLNQISITSAHVGSASASAPLSARKVINVRAPSMGKVRSLEDQLARPVIPPVPTATQAAGSSSSSGSVATSTTTTTVASGGSSQQVATASATALPVSAVAITTPGVGGEAKLEQKSDQPAAIMQNQSQNQAPPPPPPPQQQQQQQLHQPQQLQPSPHQVKQTVQIVSKETSFISGPVAAKTLVTEATSKPAELLPPPPYEMATAPISNVTISISTKQAAPKELQMKPKAVAMSLPMEQGDESLPEQAEPPLHSEQGATAAGVAPHSGGPLVSAQWTNNHLEGGVATTKIPFKPGEPQKRKLPMHPQLDEKQIQQQAEIPISTSLPTTPTGQGTPDKVQLISAIATYVKKSGVPNEAQPIQNQSQGQVQMQAQMQATMQGHLSGQMSGQISGHAAGQIPAQMHLQVQHQLHMAVHPQQQQQQLHQNQPQNATIPLPVTGQGAVPIPVPTMESKAGDQRKRRKREVQKPRRTNLNAGQAGGALKDLTGPLPAGAMVQLAGMPPGTQYIQGAASGTGHVITSTGQGVTLGGVGASTGASSSPMLKKRVRKFSKVEEDHDAFTEKLLTHIRQMQPLQVLEPHLNRNFHFLIGSNETSGGGSPASMSSAASAGSSSAGGGKLKGGSRGWPLSRHLEGLEDCDGTVLGRYGRVNLPGIPSLYDSERFGGSRGLVGGSARTRSPSPAESPGAEKMLPMSSIQNDFYDQEFSTHMERNPRERLVRHIGAVKDCNLETVDLVESEGVAAWATLPRLTRYPGLILLNGNSRCHGRMSPVALPEDPLTMRFPVSPLLRSCGEELRKTQQMELGMGPLGNNNNNNYQQKNQNVILALPASASENIAGVLRDLANLLHLAPALTCKIIEDKIGNKLEDQFMNQDDEKHVDFKRPLSQVSHGHLRKILNGRRKLCRSCGNVVHATGLRVPRHSVPALEEQLPRLAQLMDMLPRKSVPPPFVYFCDRACFARFKWNGKDGQAEAASLLLQPAGGSAVKSSNGDSPGSFCASSTAPAEMVVKQEPEDEDEKTPSVPGNPTNIPAQRKCIVKCFSADCFTTDSAPSGLELDGTAGAGTGAGPVNNTVWETETSGLQLEDTRQCVFCNQRGDGQADGPSRLLNFDVDKWVHLNCALWSNGVYETVSGALMNFQTALQAGLSQACSACHQPGATIKCFKSRCNSLYHLPCAIREECVFYKNKSVHCSVHGHAHAGITMGAGAGATTGAGLGGSVADNELSSLVVHRRVFVDRDENRQVATVMHYSELSNLLRVGNMTFLNVGQLLPHQLEAFHTPHYIYPIGYKVSRYYWCVRRPNRRCRYICSIAEAGCKPEFRIQVQDAGDKEPEREFRGSSPSAVWQQILQPITRLRKVHKWLQLFPQHISGEDLFGLTEPAIVRILESLPGIETLTDYRFKYGRNPLLEFPLAINPSGAARTEPKQRQLLVWRKPHTQRTAGSCSTQRMANSAAIAGEVACPYSKQFVHSKSSQYKKMKQEWRNNVYLARSKIQGLGLYAARDIEKHTMIIEYIGEVIRTEVSEIREKQYESKNRGIYMFRLDEDRVVDATLSGGLARYINHSCNPNCVTEIVEVDRDVRIIIFAKRKIYRGEELSYDYKFDIEDESHKIPCACGAPNCRKWMN", "length": 2431, "header": "sp|Q8IRW8-1|TRR_DROME Isoform 1 of Histone-lysine N-methyltransferase trr OS=Drosophila melanogaster OX=7227 GN=trr PE=1 SV=2 CANONICAL=Q8IRW8-1" }, "locus": { "chromosome": "X", "start_pos": 1889775, "end_pos": 1882159, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0070363", "url": "https://www.ensembl.org/id/FBtr0070363" }, { "database": "Ensembl Peptide", "id": "FBpp0070347", "url": "https://www.ensembl.org/id/FBpp0070347" } ] } }, { "isoform_ac": "Q8IRW8-2", "url": "", "sequence": { "sequence": "MNIPKVTTSLGAAEKAKPERVASVAAAAFNAVSLQKRSGDDTATPAEDPTRKKAKTELLLGTGTAAPSLPAKASSTAPQQLLYQRSGQQAKAQVKAASEPQDVETADGVWDARDQQIIVCNFGSGTEMGAIKAEDADKQTFTSFTKKEGASSSASSSSSTASVISIEPSGSGQDHAENSGKSEDLDYVLMPASGADSSTSVGNSTGTGTPAGTPIGATTSTIILNANNGTAGVSGAGTTTILTQKSGHTNYNIFNTTATGSQTPTTTLLNRVNLHPKMKTQLMVNAKKLSEVTQTTAKVSIGNKTISVPLLKPLMSASGAATAGGATIVESKQLLQPGGQVTTVMSAAQQSGGQQVHPHVHSHAHHNFTKLIKRGPKNSGTIVSFSGLQIKPANTKIVATKVVSKKMLQLQQHQQQIQQQQQLQQLQVTSGGGLAPPTGSIVTITTTNPSQTYAMVQDSATVGPAAHSEDDAPAPRKITAYSENLQKILNKSKSQESTGGPEEFTNINSVVIKPLDKNTLNCPPSFNIFKQQQHSQAAQSQSISAVGSGAGTPVTFTMASGNASDLATTSTVSVSAGTICINSPMMGTRPIISIQNKNISLVLSKTTMAQQKPKMITTTTLSSQAALQMHHALIQDSSADKAGSSANSGSATSGASMQLKLTTANTPTKLSVSLAPDVVKLEEVGSESKAKLLVKQEAVVKDSTGTPTSEERAEEIGTPEKRLNANATMTAINQVQNQSANQIQMATSTSTASNPSTPNPTVNATPMNNQRSAAEDNALLKQLLQNNSSSHSLNQISITSAHVGSASASAPLSARKVINVRAPSMGKVRSLEDQLARPVIPPVPTATQAAGSSSSSGSVATSTTTTTVASGGSSQQVATASATALPVSAVAITTPGVGGEAKLEQKSDQPAAIMQNQSQNQAPPPPPPPQQQQQQQLHQPQQLQPSPHQVKQTVQIVSKETSFISGPVAAKTLVTEATSKPAELLPPPPYEMATAPISNVTISISTKQAAPKELQMKPKAVAMSLPMEQGDESLPEQAEPPLHSEQGATAAGVAPHSGGPLVSAQWTNNHLEGGVATTKIPFKPGEPQKRKLPMHPQLDEKQIQQQAEIPISTSLPTTPTGQGTPDKVQLISAIATYVKKSGVPNEAQPIQNQSQGQVQMQAQMQATMQGHLSGQMSGQISGHAAGQIPAQMHLQVQHQLHMAVHPQQQQQQLHQNQPQNATIPLPVTGQGAVPIPVPTMESKAGDQRKRRKREVQKPRRTNLNAGQAGGALKDLTGPLPAGAMVQLAGMPPGTQYIQGAASGTGHVITSTGQGVTLGGVGASTGASSSPMLKKRVRKFSKVEEDHDAFTEKLLTHIRQMQPLQVLEPHLNRNFHFLIGSNETSGGGSPASMSSAASAGSSSAGGGKLKGGSRGWPLSRHLEGLEDCDGTVLGRYGRVNLPGIPSLYDSERFGGSRGLVGGSARTRSPSPAESPGAEKMLPMSSIQNDFYDQEFSTHMERNPRERLVRHIGAVKDCNLETVDLVESEGVAAWATLPRLTRYPGLILLNGNSRCHGRMSPVALPEDPLTMRFPVSPLLRSCGEELRKTQQMELGMGPLGNNNNNNYQQKNQNVILALPASASENIAGVLRDLANLLHLAPALTCKIIEDKIGNKLEDQFMNQDDEKHVDFKRPLSQVSHGHLRKILNGRRKLCRSCGNVVHATGLRVPRHSVPALEEQLPRLAQLMDMLPRKSVPPPFVYFCDRACFARFKWNGKDGQAEAASLLLQPAGGSAVKSSNGDSPGSFCASSTAPAEMVVKQEPEDEDEKTPSVPGNPTNIPAQRKCIVKCFSADCFTTDSAPSGLELDGTAGAGTGAGPVNNTVWETETSGLQLEDTRQCVFCNQRGDGQADGPSRLLNFDVDKWVHLNCALWSNGVYETVSGALMNFQTALQAGLSQACSACHQPGATIKCFKSRCNSLYHLPCAIREECVFYKNKSVHCSVHGHAHAGITMGAGAGATTGAGLGGSVADNELSSLVVHRRVFVDRDENRQVATVMHYSELSNLLRVGNMTFLNVGQLLPHQLEAFHTPHYIYPIGYKVSRYYWCVRRPNRRCRYICSIAEAGCKPEFRIQVQDAGDKEPEREFRGSSPSAVWQQILQPITRLRKVHKWLQLFPQHISGEDLFGLTEPAIVRILESLPGIETLTDYRFKYGRNPLLEFPLAINPSGAARTEPKQRQLLVWRKPHTQRTAGSCSTQRMANSAAIAGEVACPYSKQFVHSKSSQYKKMKQEWRNNVYLARSKIQGLGLYAARDIEKHTMIIEYIGEVIRTEVSEIREKQYESKNRGIYMFRLDEDRVVDATLSGGLARYINHSCNPNCVTEIVEVDRDVRIIIFAKRKIYRGEELSYDYKFDIEDESHKIPCACGAPNCRKWMN", "length": 2410, "header": "sp|Q8IRW8-2|TRR_DROME Isoform 2 of Histone-lysine N-methyltransferase trr OS=Drosophila melanogaster OX=7227 GN=trr PE=1 SV=2 CANONICAL=Q8IRW8-1" }, "locus": { "chromosome": "X", "start_pos": 1889775, "end_pos": 1882159, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0070362", "url": "https://www.ensembl.org/id/FBtr0070362" }, { "database": "Ensembl Peptide", "id": "FBpp0070346", "url": "https://www.ensembl.org/id/FBpp0070346" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q8IRW8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IRW8" }, { "id": "33925313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33925313" } ] } ], "phosphorylation": [ { "start_pos": 1486, "end_pos": 1486, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprot/Q8IRW8" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8IRW8", "url": "http://phospho.elm.eu.org/byAccession/Q8IRW8.html" }, { "database": "iPTMnet", "id": "Q8IRW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IRW8" } ], "site_lbl": "Thr1486" }, { "start_pos": 1488, "end_pos": 1488, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprot/Q8IRW8" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8IRW8", "url": "http://phospho.elm.eu.org/byAccession/Q8IRW8.html" }, { "database": "iPTMnet", "id": "Q8IRW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IRW8" } ], "site_lbl": "Ser1488" }, { "start_pos": 1490, "end_pos": 1490, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprot/Q8IRW8" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8IRW8", "url": "http://phospho.elm.eu.org/byAccession/Q8IRW8.html" }, { "database": "iPTMnet", "id": "Q8IRW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IRW8" } ], "site_lbl": "Ser1490" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular genetic analysis of the Drosophila trithorax-related gene which encodes a novel SET domain protein.", "journal": "Mech. Dev.", "date": "1999", "authors": "Jones R.S., Mazo A., Sedkov Y., Tillib S., Benes J.J., Berger J.R., Riker K.M.", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprot/Q8IRW8" } ], "reference": [ { "type": "PubMed", "id": "10354481", "url": "https://glygen.org/publication/PubMed/10354481" } ] }, { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprot/Q8IRW8" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "From sequence to chromosome: the tip of the X chromosome of D. melanogaster.", "journal": "Science", "date": "2000", "authors": "Galibert F., Barrell B.G., Schaefer U., Harris D., Werner M., Glover D.M., Cox S., Dreano S., Mottier S., Jaeckle H., Vidal S., Ferraz C., Brun C., Gatt M.K., Dowe G., Minana B., Modolell J., Campbell L.A., Ashburner M., Kafatos F.C., Valenti P., Louis C., Saunders R.D.C., Benos P.V., Bolshakov S., Borkova D., Cadieu E., Murphy L., Salles C., Siden-Kiamos I., de Pablos B., Beinert N., Bucheton A., Callister D.M., Darlamitsou A., Demailles J., Gloux S., Henderson N.S., Lelaure V., Madueno E., McMillan P.J., Mourkioti F., Papagiannakis G., Peter A., Schoettler P., Spanos L., Tait E.A.", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprot/Q8IRW8" } ], "reference": [ { "type": "PubMed", "id": "10731137", "url": "https://glygen.org/publication/PubMed/10731137" } ] }, { "title": "A Drosophila full-length cDNA resource.", "journal": "Genome Biol.", "date": "2002", "authors": "Stapleton M, Carlson J, Brokstein P, Yu C, Champe M, George R, Guarin H, Kronmiller B, Pacleb J, Park S, Wan K, Rubin GM, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": 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