{ "uniprot_canonical_ac": "O15105-1", "uniprot_ac": "O15105", "uniprot_id": "SMAD7_HUMAN", "mass": { "chemical_mass": 46426.0, "monoisotopic_mass": 46426.0 }, "refseq": { "ac": "NP_001177750", "name": "mothers against decapentaplegic homolog 7 isoform 2", "summary": "The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750" }, "gene_names": [ { "name": "SMAD7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15105", "id": "O15105" }, { "name": "CRCS3; MADH7; MADH8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750", "id": "NP_001177750" }, { "name": "MADH7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15105", "id": "O15105" }, { "name": "MADH8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15105", "id": "O15105" }, { "name": "SMAD7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750", "id": "NP_001177750" } ], "protein_names": [ { "name": "Mothers against decapentaplegic homolog 7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15105" }, { "name": "MAD homolog 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15105" }, { "name": "MAD homolog 8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15105" }, { "name": "Mothers against DPP homolog 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15105" }, { "name": "Mothers against DPP homolog 8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15105" }, { "name": "Mothers against decapentaplegic homolog 8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15105" }, { "name": "Mothers against decapentaplegic, drosophila, homolog of, 7; MAD (mothers against decapentaplegic, Drosophila) homolog 7; hSMAD7; MAD homolog 8; mothers against DPP homolog 8; SMAD, mothers against DPP homolog 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750", "id": "NP_001177750" }, { "name": "SMAD 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15105" }, { "name": "SMAD family member 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15105" }, { "name": "Smad7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15105" }, { "name": "hSMAD7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15105" }, { "name": "mothers against decapentaplegic homolog 7 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750", "id": "NP_001177750" } ], "function": [ { "annotation": "Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access (PubMed:21791611). Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105#function" }, { "database": "PubMed", "id": "14718519", "url": "https://glygen.org/publication/PubMed/14718519" }, { "database": "PubMed", "id": "9892009", "url": "https://glygen.org/publication/PubMed/9892009" }, { "database": "PubMed", "id": "21791611", "url": "https://glygen.org/publication/PubMed/21791611" }, { "database": "PubMed", "id": "11163210", "url": "https://glygen.org/publication/PubMed/11163210" }, { "database": "PubMed", "id": "12023024", "url": "https://glygen.org/publication/PubMed/12023024" }, { "database": "PubMed", "id": "17327236", "url": "https://glygen.org/publication/PubMed/17327236" } ] }, { "annotation": "CircMACF1 alleviates myocardial fibrosis after acute myocardial infarction by suppressing cardiac fibroblast activation via the miR-16-5p/SMAD7 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001177750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750" }, { "database": "PubMed", "id": "37713818", "url": "https://glygen.org/publication/PubMed/37713818" } ] }, { "annotation": "Circular RNA sirtuin-1 restrains the malignant phenotype of non-small cell lung cancer cells via the microRNA-510-5p/SMAD family member 7 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001177750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750" }, { "database": "PubMed", "id": "37851987", "url": "https://glygen.org/publication/PubMed/37851987" } ] }, { "annotation": "Identification and characterization of colorectal-cancer-associated SNPs on the SMAD7 locus.", "evidence": [ { "database": "RefSeq", "id": "NP_001177750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750" }, { "database": "PubMed", "id": "37721570", "url": "https://glygen.org/publication/PubMed/37721570" } ] }, { "annotation": "TGF-beta1 signaling and Smad7 control T-cell responses in health and immune-mediated disorders. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001177750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750" }, { "database": "PubMed", "id": "37611637", "url": "https://glygen.org/publication/PubMed/37611637" } ] }, { "annotation": "The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001177750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750" } ] }, { "annotation": "[Silencing of SMAD family member 3 promotes M2 polarization of macrophages and the expression of SMAD7 in rheumatoid arthritis].", "evidence": [ { "database": "RefSeq", "id": "NP_001177750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177750" }, { "database": "PubMed", "id": "37882714", "url": "https://glygen.org/publication/PubMed/37882714" } ] } ], "disease": [ { "disease_id": "MONDO:0012820", "recommended_name": { "id": "MONDO:0012820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012820", "name": "colorectal cancer, susceptibility to, 3", "description": "Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene." }, "synonyms": [ { "id": "MONDO:0012820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012820", "name": "SMAD7 colorectal cancer", "description": "" }, { "id": "MONDO:0012820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012820", "name": "colorectal cancer caused by mutation in SMAD7", "description": "" }, { "id": "MONDO:0012820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012820", "name": "colorectal cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012820", "name": "colorectal cancer, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0012820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012820", "name": "CRCS3", "description": "" }, { "id": "MONDO:0012820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012820", "name": "colorectal cancer, susceptibility to, on chromosome 18", "description": "" }, { "id": "MONDO:0012820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012820", "name": "susceptibility to colorectal cancer 3", "description": "" }, { "id": "MIM:612229", "resource": "MIM", "url": "https://www.omim.org/entry/612229", "name": "Colorectal cancer 3", "description": "Colorectal cancer 3" } ], "evidence": [ { "id": "612229", "database": "MIM", "url": "https://www.omim.org/entry/612229" } ] } ], "snv": [ { "evidence": [ { "id": "O15105", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15105" } ], "glycoeffect": [], "start_pos": 314, "end_pos": 314, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "48921713", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R314", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": 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{ "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease 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"MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": 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"" }, { "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", 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"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 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"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": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15105" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15105" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15105" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15105" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15105" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15105" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15105" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O15105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15105" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O15105", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15105" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"http://pfam.xfam.org/family/PF03166", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15105", "url": "https://pharos.nih.gov/targets/O15105", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15105", "url": "http://purl.obolibrary.org/obo/PR_O15105", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2173788", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173788", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796", "database": "Reactome", "categories": [ "Protein Classification" ] }, { 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"O15105-1", "url": "https://www.uniprot.org/uniprot/O15105-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15105-2", "url": "https://www.uniprot.org/uniprot/O15105-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15105-3", "url": "https://www.uniprot.org/uniprot/O15105-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFRTKRSALVRRLWRSRAPGGEDEEEGAGGGGGGGELRGEGATDSRAHGAGGGGPGRAGCCLGKAVRGAKGHHHPHPPAAGAGAAGGAEADLKALTHSVLKKLKERQLELLLQAVESRGGTRTACLLLPGRLDCRLGPGAPAGAQPAQPPSSYSLPLLLCKVFRWPDLRHSSEVKRLCCCESYGKINPELVCCNPHHLSRLCELESPPPPYSRYPMDFLKPTADCPDAVPSSAETGGTNYLAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQLNSDNKSQLVQKVRSKIGCGIQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAYSLQRPNDHEFMQQPWTGFTVQISFVKGWGQCYTRQFISSCPCWLEVIFNSR", "length": 426, "header": "sp|O15105-1|SMAD7_HUMAN Isoform 1 of Mothers against decapentaplegic homolog 7 OS=Homo sapiens OX=9606 GN=SMAD7 PE=1 SV=1 CANONICAL=O15105-1" }, "isoforms": [ { "isoform_ac": "K7EKF0-1", "url": "", "sequence": { "sequence": "MDFLKPTADCPDAVPSSAETGGTNYLAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQLNSDNKSQLVQKVRSKIGCGIQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEK", "length": 158, "header": "tr|K7EKF0-1|K7EKF0_HUMAN Computationally mapped isoform of SMAD family member 7 OS=Homo sapiens OX=9606 GN=SMAD7 PE=4 SV=1 CANONICAL=O15105-1" }, "locus": { "chromosome": "18", "start_pos": 48948405, "end_pos": 48921534, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586093.1", "url": "https://www.ensembl.org/id/ENST00000586093.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465590.1", "url": "https://www.ensembl.org/id/ENSP00000465590.1" } ] } }, { "isoform_ac": "O15105-1", "url": "", "sequence": { "sequence": "MFRTKRSALVRRLWRSRAPGGEDEEEGAGGGGGGGELRGEGATDSRAHGAGGGGPGRAGCCLGKAVRGAKGHHHPHPPAAGAGAAGGAEADLKALTHSVLKKLKERQLELLLQAVESRGGTRTACLLLPGRLDCRLGPGAPAGAQPAQPPSSYSLPLLLCKVFRWPDLRHSSEVKRLCCCESYGKINPELVCCNPHHLSRLCELESPPPPYSRYPMDFLKPTADCPDAVPSSAETGGTNYLAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQLNSDNKSQLVQKVRSKIGCGIQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAYSLQRPNDHEFMQQPWTGFTVQISFVKGWGQCYTRQFISSCPCWLEVIFNSR", "length": 426, "header": "sp|O15105-1|SMAD7_HUMAN Isoform 1 of Mothers against decapentaplegic homolog 7 OS=Homo sapiens OX=9606 GN=SMAD7 PE=1 SV=1 CANONICAL=O15105-1" }, "locus": { "chromosome": "18", "start_pos": 48950424, "end_pos": 48921375, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262158.8", "url": "https://www.ensembl.org/id/ENST00000262158.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000262158.2", "url": "https://www.ensembl.org/id/ENSP00000262158.2" } ] } }, { "isoform_ac": "O15105-2", "url": "", "sequence": { "sequence": "MDFLKPTADCPDAVPSSAETGGTNYLAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQLNSDNKSQLVQKVRSKIGCGIQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAYSLQRPNDHEFMQQPWTGFTVQISFVKGWGQCYTRQFISSCPCWLEVIFNSR", "length": 211, "header": "sp|O15105-2|SMAD7_HUMAN Isoform 2 of Mothers against decapentaplegic homolog 7 OS=Homo sapiens OX=9606 GN=SMAD7 PE=1 SV=1 CANONICAL=O15105-1" }, "locus": { "chromosome": "18", "start_pos": 48948405, "end_pos": 48921375, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591805.5", "url": "https://www.ensembl.org/id/ENST00000591805.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466902.1", "url": "https://www.ensembl.org/id/ENSP00000466902.1" } ] } }, { "isoform_ac": "O15105-3", "url": "", "sequence": { "sequence": "MFRTKRSALVRRLWRSRAPGGEDEEEGAGGGGGGGELRGEGATDSRAHGAGGGGPGRAGCCLGKAVRGAKGHHHPHPPAAGAGAAGGAEADLKALTHSVLKKLKERQLELLLQAVESRGGTRTACLLLPGRLDCRLGPGAPAGAQPAQPPSSYSLPLLLCKVFRWPDLRHSSEVKRLCCCESYGKINPELVCCNPHHLSRLCELESPPPPYSRYPMDFLKPTDCPDAVPSSAETGGTNYLAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQLNSDNKSQLVQKVRSKIGCGIQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAYSLQRPNDHEFMQQPWTGFTVQISFVKGWGQCYTRQFISSCPCWLEVIFNSR", "length": 425, "header": "sp|O15105-3|SMAD7_HUMAN Isoform 3 of Mothers against decapentaplegic homolog 7 OS=Homo sapiens OX=9606 GN=SMAD7 PE=1 SV=1 CANONICAL=O15105-1" }, "locus": { "chromosome": "18", "start_pos": 48950424, "end_pos": 48921375, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589634.1", "url": "https://www.ensembl.org/id/ENST00000589634.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467621.1", "url": "https://www.ensembl.org/id/ENSP00000467621.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 206, "end_pos": 206, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15105" }, { "database": "PubMed", "id": "31546607", "url": "https://glygen.org/publication/PubMed/31546607" } ], "site_lbl": "Ser206" }, { "start_pos": 249, "end_pos": 249, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" }, { "database": "PRO", "id": "O15105", "url": "http://purl.obolibrary.org/obo/O15105" }, { "database": "iPTMnet", "id": "O15105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15105" }, { "database": "PubMed", "id": "11278814", "url": "https://glygen.org/publication/PubMed/11278814" } ], "site_lbl": "Ser249" }, { "start_pos": 96, "end_pos": 96, "kinase_uniprot_canonical_ac": "Q14680-1", "kinase_gene_name": "MELK", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15105" }, { "database": "PubMed", "id": "20659902", "url": "https://glygen.org/publication/PubMed/20659902" } ], "site_lbl": "Thr96" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Smad3-Smad4 and AP-1 complexes synergize in transcriptional activation of the c-Jun promoter by transforming growth factor beta.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Wong C, Rougier-Chapman EM, Frederick JP, Datto MB, Liberati NT, Li JM, Wang XF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "10022869", "url": "https://glygen.org/publication/PubMed/10022869" } ] }, { "title": "Inhibition of transforming growth factor-beta/SMAD signalling by the interferon-gamma/STAT pathway.", "journal": "Nature", "date": "1999", "authors": "Ulloa L, Doody J, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "10067896", "url": "https://glygen.org/publication/PubMed/10067896" } ] }, { "title": "A mechanism of repression of TGFbeta/ Smad signaling by oncogenic Ras.", "journal": "Genes & development", "date": "1999", "authors": "Kretzschmar M, Doody J, Timokhina I, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10197981", "url": "https://glygen.org/publication/PubMed/10197981" } ] }, { "title": "A Smad transcriptional corepressor.", "journal": "Cell", "date": "1999", "authors": "Wotton D, Lo RS, Lee S, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "10199400", "url": "https://glygen.org/publication/PubMed/10199400" } ] }, { "title": "Identification, functional characterization, and chromosomal localization of USP15, a novel human ubiquitin-specific protease related to the UNP oncoprotein, and a systematic nomenclature for human ubiquitin-specific proteases.", "journal": "Genomics", "date": "1999", "authors": "Baker RT, Wang XW, Woollatt E, White JA, Sutherland GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "10444327", "url": "https://glygen.org/publication/PubMed/10444327" } ] }, { "title": "A SMAD ubiquitin ligase targets the BMP pathway and affects embryonic pattern formation.", "journal": "Nature", "date": "1999", "authors": "Zhu H, Kavsak P, Abdollah S, Wrana JL, Thomsen GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10458166", "url": "https://glygen.org/publication/PubMed/10458166" } ] }, { "title": "The Ski oncoprotein interacts with the Smad proteins to repress TGFbeta signaling.", "journal": "Genes & development", "date": "1999", "authors": "Luo K, Stroschein SL, Wang W, Chen D, Martens E, Zhou S, Zhou Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10485843", "url": "https://glygen.org/publication/PubMed/10485843" } ] }, { "title": "Silencing of TGF-beta signalling by the pseudoreceptor BAMBI.", "journal": "Nature", "date": "1999", "authors": "Onichtchouk D, Chen YG, Dosch R, Gawantka V, Delius H, Massague J, Niehrs C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173788", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173788" } ], "reference": [ { "type": "PubMed", "id": "10519551", "url": "https://glygen.org/publication/PubMed/10519551" } ] }, { "title": "Negative feedback regulation of TGF-beta signaling by the SnoN oncoprotein.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Stroschein SL, Wang W, Zhou S, Zhou Q, Luo K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10531062", "url": "https://glygen.org/publication/PubMed/10531062" } ] }, { "title": "SnoN and Ski protooncoproteins are rapidly degraded in response to transforming growth factor beta signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Sun Y, Liu X, Ng-Eaton E, Lodish HF, Weinberg RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10535941", "url": "https://glygen.org/publication/PubMed/10535941" } ] }, { "title": "Interaction of the Ski oncoprotein with Smad3 regulates TGF-beta signaling.", "journal": "Molecular cell", "date": "1999", "authors": "Sun Y, Liu X, Eaton EN, Lane WS, Lodish HF, Weinberg RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10549282", "url": "https://glygen.org/publication/PubMed/10549282" } ] }, { "title": "Ubiquitin-dependent degradation of TGF-beta-activated smad2.", "journal": "Nature cell biology", "date": "1999", "authors": "Lo RS, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10587642", "url": "https://glygen.org/publication/PubMed/10587642" } ] }, { "title": "SMAD destruction turns off signalling.", "journal": "Nature cell biology", "date": "1999", "authors": "Heldin CH, ten Dijke P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10587654", "url": "https://glygen.org/publication/PubMed/10587654" } ] }, { "title": "Remarkable versatility of Smad proteins in the nucleus of transforming growth factor-beta activated cells.", "journal": "Cytokine Growth Factor Rev.", "date": "1999", "authors": "Verschueren K, Huylebroeck D", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "reference": [ { "type": "PubMed", "id": "10647776", "url": "https://glygen.org/publication/PubMed/10647776" } ] }, { "title": "The Smad pathway.", "journal": "Cytokine Growth Factor Rev.", "date": "2000", "authors": "Wrana J L, Attisano L", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "reference": [ { "type": "PubMed", "id": "10708948", "url": "https://glygen.org/publication/PubMed/10708948" } ] }, { "title": "TGF-beta signaling by Smad proteins.", "journal": "Cytokine Growth Factor Rev.", "date": "2000", "authors": "Miyazono K", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "reference": [ { "type": "PubMed", "id": "10708949", "url": "https://glygen.org/publication/PubMed/10708949" } ] }, { "title": "Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Gilboa L, Nohe A, Geissendorfer T, Sebald W, Henis YI, Knaus P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": 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{ "title": "Murine protein serine/threonine kinase 38 stimulates TGF-beta signaling in a kinase-dependent manner via direct phosphorylation of Smad proteins.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Seong HA, Jung H, Ha H", "evidence": [ { "database": "iPTMnet", "id": "O15105", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15105" } ], "reference": [ { "type": "PubMed", "id": "20659902", "url": "https://glygen.org/publication/PubMed/20659902" } ] }, { "title": "The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expression.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Yu H, Mashtalir N, Daou S, Hammond-Martel I, Ross J, Sui G, Hart GW, Rauscher FJ 3rd, Drobetsky E, Milot E, Shi Y, Affar el B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689603", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689603" } ], "reference": [ 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Lin X, Dong C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "23825189", "url": "https://glygen.org/publication/PubMed/23825189" } ] }, { "title": "Deubiquitinating enzyme Usp12 is a novel co-activator of the androgen receptor.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Burska UL, Harle VJ, Coffey K, Darby S, Ramsey H, O'Neill D, Logan IR, Gaughan L, Robson CN", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "24056413", "url": "https://glygen.org/publication/PubMed/24056413" } ] }, { "title": "Ubiquitin-specific proteases 25 negatively regulates virus-induced type I interferon signaling.", "journal": "PloS one", "date": "2013", "authors": "Zhong H, Wang D, Fang L, Zhang H, Luo R, Shang M, Ouyang C, 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} ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 40, "go_terms": [ { "name": "regulation of epithelial to mesenchymal transition", "id": "GO:0010717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010717", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0017015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017015", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "regulation of ventricular cardiac muscle cell membrane depolarization", "id": 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"name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "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": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "response to laminar fluid shear stress", "id": "GO:0034616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034616", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of ubiquitin-protein transferase activity", "id": "GO:0051444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051444", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of transcription by competitive promoter binding", "id": "GO:0010944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010944", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of activin receptor signaling pathway", "id": "GO:0032926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032926", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction", "id": "GO:0055117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055117", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-serine phosphorylation", "id": "GO:0033137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033137", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "protein-containing complex localization", "id": "GO:0031503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031503", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-threonine phosphorylation", "id": "GO:0010801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010801", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "adherens junction assembly", "id": "GO:0034333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034333", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte proliferation", "id": "GO:1902731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902731", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of epithelial to mesenchymal transition", "id": "GO:0010719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010719", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue morphogenesis", "id": "GO:0055010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055010", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "negative regulation of SMAD protein signal transduction", "id": "GO:0060392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060392", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte hypertrophy", "id": "GO:1903043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903043", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "heteromeric SMAD protein complex", "id": "GO:0071144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071144", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 10, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "ubiquitin ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "I-SMAD binding", "id": "GO:0070411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070411", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "type I transforming growth factor beta receptor binding", "id": "GO:0034713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034713", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "activin receptor binding", "id": "GO:0070697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070697", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" }, { "name": "transcription regulator inhibitor activity", "id": "GO:0140416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140416", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 305, "end_pos": 307, "annotation": "n_glycosylation_sequon" }, { "start_pos": 334, "end_pos": 336, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Acetylation prevents ubiquitination and degradation mediated by SMURF1.", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" }, { "database": "PubMed", "id": "12408818", "url": "https://glygen.org/publication/PubMed/12408818" } ] }, { "annotation": "Phosphorylation on Ser-249 does not affect its stability, nuclear localization or inhibitory function in TGFB signaling; however it affects its ability to regulate transcription (By similarity). Phosphorylated by PDPK1.", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" }, { "database": "PubMed", "id": "17327236", "url": "https://glygen.org/publication/PubMed/17327236" } ] }, { "annotation": "Ubiquitinated by WWP1 (By similarity). Polyubiquitinated by RNF111, which is enhanced by AXIN1 and promotes proteasomal degradation (PubMed:14657019, PubMed:16601693). In response to TGF-beta, ubiquitinated by SMURF1; which promotes its degradation (PubMed:11278251).", "evidence": [ { "database": "UniProtKB", "id": "O15105", "url": "https://www.uniprot.org/uniprot/O15105" }, { "database": "PubMed", "id": "14657019", "url": "https://glygen.org/publication/PubMed/14657019" }, { "database": "PubMed", "id": "16601693", "url": "https://glygen.org/publication/PubMed/16601693" }, { "database": "PubMed", "id": "11278251", "url": "https://glygen.org/publication/PubMed/11278251" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 314 ], "glycation_sites": [], "phosphorylation_sites": [ 96, 206, 249 ], "sequon_annotation_sites": [ { "start_pos": 305, "end_pos": 307 }, { "start_pos": 334, "end_pos": 336 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 219 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }