{ "uniprot_canonical_ac": "O15553-2", "uniprot_ac": "O15553", "uniprot_id": "MEFV_HUMAN", "mass": { "chemical_mass": 86444.0, "monoisotopic_mass": 86444.0 }, "refseq": { "ac": "NP_000234", "name": "pyrin isoform 1", "summary": "This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234" }, "gene_names": [ { "name": "MEFV", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15553", "id": "O15553" }, { "name": "FMF; MEF; PAAND; TRIM20", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234", "id": "NP_000234" }, { "name": "MEFV", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234", "id": "NP_000234" }, { "name": "MEF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15553", "id": "O15553" }, { "name": "TRIM20", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15553", "id": "O15553" } ], "protein_names": [ { "name": "Pyrin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15553" }, { "name": "Marenostrin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15553" }, { "name": "pyrin isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234", "id": "NP_000234" }, { "name": "pyrin; marenostrin; Mediterranean fever; MEFV, pyrin innate immunity regulator; MEFV innate immuity regulator, pyrin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234", "id": "NP_000234" } ], "function": [ { "annotation": "A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234" }, { "database": "PubMed", "id": "37676738", "url": "https://glygen.org/publication/PubMed/37676738" } ] }, { "annotation": "Behcet disease, familial Mediterranean fever and MEFV variations: More than just an association. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234" }, { "database": "PubMed", "id": "37216220", "url": "https://glygen.org/publication/PubMed/37216220" } ] }, { "annotation": "Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923, PubMed:16037825, PubMed:27030597, PubMed:28835462, PubMed:16785446, PubMed:17431422, PubMed:26347139). Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy (PubMed:16785446, PubMed:17431422, PubMed:26347139). Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation (PubMed:16785446, PubMed:17431422, PubMed:26347139). However, it can also have a positive effect in the inflammatory pathway, acting as an innate immune sensor that triggers PYCARD/ASC specks formation, caspase-1 activation, and IL1B and IL18 production (PubMed:16037825, PubMed:27030597, PubMed:28835462). Together with AIM2, also acts as a mediator of pyroptosis, necroptosis and apoptosis (PANoptosis), an integral part of host defense against pathogens, in response to bacterial infection (By similarity). It is required for PSTPIP1-induced PYCARD/ASC oligomerization and inflammasome formation (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923). Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923).", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553#function" }, { "database": "PubMed", "id": "17431422", "url": "https://glygen.org/publication/PubMed/17431422" }, { "database": "PubMed", "id": "26347139", "url": "https://glygen.org/publication/PubMed/26347139" }, { "database": "PubMed", "id": "18577712", "url": "https://glygen.org/publication/PubMed/18577712" }, { "database": "PubMed", "id": "17964261", "url": "https://glygen.org/publication/PubMed/17964261" }, { "database": "PubMed", "id": "16785446", "url": "https://glygen.org/publication/PubMed/16785446" }, { "database": "PubMed", "id": "10807793", "url": "https://glygen.org/publication/PubMed/10807793" }, { "database": "PubMed", "id": "16037825", "url": "https://glygen.org/publication/PubMed/16037825" }, { "database": "PubMed", "id": "19584923", "url": "https://glygen.org/publication/PubMed/19584923" }, { "database": "PubMed", "id": "19109554", "url": "https://glygen.org/publication/PubMed/19109554" }, { "database": "PubMed", "id": "27030597", "url": "https://glygen.org/publication/PubMed/27030597" }, { "database": "PubMed", "id": "28835462", "url": "https://glygen.org/publication/PubMed/28835462" }, { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprot/Q9JJ26#function" }, { "database": "PubMed", "id": "11468188", "url": "https://glygen.org/publication/PubMed/11468188" } ] }, { "annotation": "Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case-control association study among Iranian children.", "evidence": [ { "database": "RefSeq", "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234" }, { "database": "PubMed", "id": "37286266", "url": "https://glygen.org/publication/PubMed/37286266" } ] }, { "annotation": "Phosphoprotein phosphatase activity positively regulates oligomeric pyrin to trigger inflammasome assembly in phagocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234" }, { "database": "PubMed", "id": "37787552", "url": "https://glygen.org/publication/PubMed/37787552" } ] }, { "annotation": "These results declare MEFV to be the first auto-inflammatory gene regulated by nonsense-mediated decay.", "evidence": [ { "database": "RefSeq", "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234" }, { "database": "PubMed", "id": "19755381", "url": "https://glygen.org/publication/PubMed/19755381" } ] }, { "annotation": "This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234" } ] } ], "disease": [ { "disease_id": "DOID:0080746", "recommended_name": { "id": "DOID:0080746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080746", "name": "Sweet syndrome", "description": "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions." }, "synonyms": [ { "id": "DOID:0080746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080746", "name": "Acute Febrile Neutrophilic Dermatosis", "description": "" }, { "id": "DOID:0080746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080746", "name": "Sweet's syndrome", "description": "" }, { "id": "MONDO:0011959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011959", "name": "sweet syndrome", "description": "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." }, { "id": "MONDO:0011959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011959", "name": "acute febrile neutrophilic dermatosis", "description": "" }, { "id": "MONDO:0011959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011959", "name": "sweet syndrome", "description": "" }, { "id": "MONDO:0011959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011959", "name": "Afnd", "description": "" }, { "id": "MONDO:0011959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011959", "name": "Gomm button disease", "description": "" }, { "id": "MONDO:0011959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011959", "name": "Gomm-button disease", "description": "" }, { "id": "MONDO:0011959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011959", "name": "neutrophilic dermatosis, acute febrile", "description": "" }, { "id": "MIM:608068", "resource": "MIM", "url": "https://www.omim.org/entry/608068", "name": "Pyrin-associated autoinflammatory disease", "description": "Pyrin-associated autoinflammatory disease" } ], "evidence": [ { "id": "608068", "database": "MIM", "url": "https://www.omim.org/entry/608068" } ] }, { "disease_id": "DOID:2987", "recommended_name": { "id": "DOID:2987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2987", "name": "familial Mediterranean fever", "description": "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin." }, "synonyms": [ { "id": "DOID:2987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2987", "name": "benign paroxysmal peritonitis", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, autosomal dominant", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, AD", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, autosomal dominant", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "Fmf, autosomal dominant", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "autosomal recessive familial Mediterranean fever", "description": "Autosomal recessive form of familial Mediterranean fever." }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "autosomal recessive familial Mediterranean fever", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever, AR", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever, autosomal recessive", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "FMF", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial MEDITERRANEAN FEVER", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "polyserositis, familial paroxysmal", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "polyserositis, recurrent", "description": "" }, { "id": "MIM:134610", "resource": "MIM", "url": "https://www.omim.org/entry/134610", "name": "Familial Mediterranean fever, autosomal dominant", "description": "Familial Mediterranean fever, autosomal dominant" }, { "id": "MIM:249100", "resource": "MIM", "url": "https://www.omim.org/entry/249100", "name": "Familial Mediterranean fever, autosomal recessive", "description": "Familial Mediterranean fever, autosomal recessive" } ], "evidence": [ { "id": "134610", "database": "MIM", "url": "https://www.omim.org/entry/134610" }, { "id": "249100", "database": "MIM", "url": "https://www.omim.org/entry/249100" } ] } ], "snv": [ { "evidence": [ { "id": "rs147557169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147557169" }, { "id": "rs147557169", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147557169" }, { "id": "rs147557169", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147557169" }, { "id": "rs147557169", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147557169#frequency_tab" }, { "id": "rs147557169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147557169" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 115, "end_pos": 115, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "16", "chr_pos": "3254725", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "P115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147557169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147557169" }, { "id": "rs147557169", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147557169" }, { "id": "rs147557169", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147557169" }, { "id": "rs147557169", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147557169#frequency_tab" }, { "id": "rs147557169", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147557169" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 115, "end_pos": 115, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "16", "chr_pos": "3254725", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "P115", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:2987", "recommended_name": { "id": "DOID:2987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2987", "name": "familial Mediterranean fever", "description": "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin." }, "synonyms": [ { "id": "DOID:2987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2987", "name": "benign paroxysmal peritonitis", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, autosomal dominant", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, AD", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, autosomal dominant", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "Fmf, autosomal dominant", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "autosomal recessive familial Mediterranean fever", "description": "Autosomal recessive form of familial Mediterranean fever." }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "autosomal recessive familial Mediterranean fever", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever, AR", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever, autosomal recessive", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "FMF", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial MEDITERRANEAN FEVER", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "polyserositis, familial paroxysmal", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "polyserositis, recurrent", "description": "" }, { "id": "MIM:134610", "resource": "MIM", "url": "https://www.omim.org/entry/134610", "name": "Familial Mediterranean fever, autosomal dominant", "description": "Familial Mediterranean fever, autosomal dominant" }, { "id": "MIM:249100", "resource": "MIM", "url": "https://www.omim.org/entry/249100", "name": "Familial Mediterranean fever, autosomal recessive", "description": "Familial Mediterranean fever, autosomal recessive" } ] } ] }, { "evidence": [ { "id": "O15553", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15553" } ], "glycoeffect": [], "start_pos": 133, "end_pos": 133, "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": "16", "chr_pos": "3254671", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R133", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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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": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs971489905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs971489905" }, { "id": "rs971489905", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs971489905#frequency_tab" }, { "id": "rs971489905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs971489905" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 745, "end_pos": 745, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SCS->NCS).", "chr_id": "16", "chr_pos": "3243253", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S745", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1157270759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157270759" }, { "id": "rs1157270759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157270759" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 768, "end_pos": 768, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "16", "chr_pos": "3243185", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A768", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 16, "end_pos": 16, "sequence_org": "L", "sequence_mut": "P", "comment": "Does not form MEFV- and PSTPIP1-containing perinuclear specks.", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" }, { "database": "PubMed", "id": "16037825", "url": "https://glygen.org/publication/PubMed/16037825" } ] }, { "start_pos": 208, "end_pos": 208, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of interaction with 14-3-3 proteins.", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" }, { "database": "PubMed", "id": "28835462", "url": "https://glygen.org/publication/PubMed/28835462" } ] }, { "start_pos": 244, "end_pos": 244, "sequence_org": "E", "sequence_mut": "D", "comment": "No effect on PYCARD/ASC specks formation. No effect on interaction with 14-3-3 proteins.", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" }, { "database": "PubMed", "id": "28835462", "url": "https://glygen.org/publication/PubMed/28835462" } ] }, { "start_pos": 244, "end_pos": 244, "sequence_org": "E", "sequence_mut": "P", "comment": "No effect on PYCARD/ASC specks formation. Increased interaction with 14-3-3 proteins.", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" }, { "database": "PubMed", "id": "28835462", "url": "https://glygen.org/publication/PubMed/28835462" } ] }, { "start_pos": 244, "end_pos": 244, "sequence_org": "E", "sequence_mut": "R", "comment": "Increased PYCARD/ASC specks formation. Decreased interaction with 14-3-3 proteins.", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" }, { "database": "PubMed", "id": "28835462", "url": "https://glygen.org/publication/PubMed/28835462" } ] }, { "start_pos": 24, "end_pos": 24, "sequence_org": "F", "sequence_mut": "S", "comment": "Does not form MEFV- and PSTPIP1-containing perinuclear specks.", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" }, { "database": "PubMed", "id": "16037825", "url": "https://glygen.org/publication/PubMed/16037825" } ] }, { "start_pos": 330, "end_pos": 330, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of cleavage by CASP1.", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" }, { "database": "PubMed", "id": "18577712", "url": "https://glygen.org/publication/PubMed/18577712" } ] }, { "start_pos": 397, "end_pos": 404, "sequence_org": "ICSLSQEH", "sequence_mut": "", "comment": "No effect on GABARAP-binding. Loss of GABARAP-binding; when associated with 470-Y--G-488 and 523-S--D-530.", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ] }, { "start_pos": 470, "end_pos": 488, "sequence_org": "YYFLEQQEHFFVASLEDVG", "sequence_mut": "", "comment": "No effect on GABARAP-binding. Loss of GABARAP-binding; when associated with 397-I--H-404 and 523-S--D-530.", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ] }, { "start_pos": 523, "end_pos": 530, "sequence_org": "SEWELLQD", "sequence_mut": "", "comment": "No effect on GABARAP-binding. Loss of GABARAP-binding; when associated with 397-I--H-404 and 470-Y--G-488.", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "54.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103313" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "61.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103313" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "75.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103313" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "63.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103313" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "60.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103313" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "58.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103313" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "68.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103313" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "52.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103313" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "56.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103313" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15553", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15553" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": 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"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 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}, { "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", 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"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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15553", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15553" } ], "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": 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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"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 tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15553" } ], "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": 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"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 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"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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15553", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15553" } ], "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 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"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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15553", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15553" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15553", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15553" } ], "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": [ 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "common_name": "Human" } ], "gene": [ { "name": "MEFV", "url": "https://www.uniprot.org/uniprot/O15553", "locus": { "chromosome": "16", "start_pos": 3242027, "end_pos": 3256633, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000103313", "url": "https://www.ensembl.org/id/ENSG00000103313" } ] } } ], "crossref": [ { "id": "ENSG00000103313", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103313", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15553", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15553", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd08321", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08321", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd15813", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15813", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd19771", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19771", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "MEFV", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEFV", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4210", "url": "https://www.ncbi.nlm.nih.gov/gene/4210", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6998", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6998", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15553", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15553*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000315", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000315", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001870", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001870", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003877", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003877", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003879", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003879", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004020", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004020", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006574", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006574", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011029", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011029", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013320", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013320", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043136", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043136", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4210", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4210", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "134610", "url": "http://www.omim.org/entry/134610", "database": "MIM", "categories": [ "Other" ] }, { "id": "249100", "url": "http://www.omim.org/entry/249100", "database": "MIM", "categories": [ "Other" ] }, { "id": "608068", "url": "http://www.omim.org/entry/608068", "database": "MIM", "categories": [ "Other" ] }, { "id": "608107", "url": "http://www.omim.org/entry/608107", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15553", "url": "https://www.nextprot.org/entry/NX_O15553", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15553", "url": "https://oglcnac.org/atlas/detail/O15553", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15553", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15553", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CQRHMKQ", "url": "https://omabrowser.org/oma/group/CQRHMKQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4634371at2759", "url": "http://www.orthodb.org/?query=4634371at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24103", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24103", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24103:SF606", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24103:SF606", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2MPC", "url": "https://www.rcsb.org/structure/2MPC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2WL1", "url": "https://www.rcsb.org/structure/2WL1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4CG4", "url": "https://www.rcsb.org/structure/4CG4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00622", "url": "http://pfam.xfam.org/family/PF00622", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00643", "url": "http://pfam.xfam.org/family/PF00643", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02758", "url": "http://pfam.xfam.org/family/PF02758", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13765", "url": "http://pfam.xfam.org/family/PF13765", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15553", "url": "https://pharos.nih.gov/targets/O15553", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15553", "url": "http://purl.obolibrary.org/obo/PR_O15553", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9660826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660826", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15553-1", "url": "https://www.uniprot.org/uniprot/O15553-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15553-2", "url": "https://www.uniprot.org/uniprot/O15553-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15553-3", "url": "https://www.uniprot.org/uniprot/O15553-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQRLLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSKRREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKECRPFEVYLPSGKMRPRSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARPTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLLHQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGPD", "length": 781, "header": "sp|O15553-2|MEFV_HUMAN Isoform 2 of Pyrin OS=Homo sapiens OX=9606 GN=MEFV PE=1 SV=1 CANONICAL=O15553-2" }, "isoforms": [ { "isoform_ac": "O15553-1", "url": "", "sequence": { "sequence": "MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQRLLAEELHRAAIQGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLLHQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGPD", "length": 570, "header": "sp|O15553-1|MEFV_HUMAN Isoform 1 of Pyrin OS=Homo sapiens OX=9606 GN=MEFV PE=1 SV=1 CANONICAL=O15553-2" }, "locus": { "chromosome": "16", "start_pos": 3256587, "end_pos": 3243144, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536379.5", "url": "https://www.ensembl.org/id/ENST00000536379.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000445079.1", "url": "https://www.ensembl.org/id/ENSP00000445079.1" } ] } }, { "isoform_ac": "O15553-2", "url": "", "sequence": { "sequence": "MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQRLLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSKRREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKECRPFEVYLPSGKMRPRSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARPTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLLHQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGPD", "length": 781, "header": "sp|O15553-2|MEFV_HUMAN Isoform 2 of Pyrin OS=Homo sapiens OX=9606 GN=MEFV PE=1 SV=1 CANONICAL=O15553-2" }, "locus": { "chromosome": "16", "start_pos": 3256587, "end_pos": 3243144, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000219596.6", "url": "https://www.ensembl.org/id/ENST00000219596.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000219596.1", "url": "https://www.ensembl.org/id/ENSP00000219596.1" } ] } }, { "isoform_ac": "O15553-3", "url": "", "sequence": { "sequence": "MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQRLLAEELHRAAIQGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLLHQKSEFVEKSTKYFSETLRSEMEMFNDHSPQHGLGSWEERDYTQHSMQGPKQGVPCLSLLSGQCNLAPLNANAQDFFPYLIFLRSSGADWRSGTCC", "length": 445, "header": "sp|O15553-3|MEFV_HUMAN Isoform 3 of Pyrin OS=Homo sapiens OX=9606 GN=MEFV PE=1 SV=1 CANONICAL=O15553-2" }, "locus": { "chromosome": "16", "start_pos": 3256587, "end_pos": 3243694, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541159.5", "url": "https://www.ensembl.org/id/ENST00000541159.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000438711.1", "url": "https://www.ensembl.org/id/ENSP00000438711.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 187, "start_aa": "Ser", "end_pos": 187, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser187", "evidence": [ { "id": "O15553", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15553" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 442, "start_aa": "Ser", "end_pos": 442, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser442", "evidence": [ { "id": "O15553", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15553" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O15553", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15553" } ] } ], "phosphorylation": [ { "start_pos": 208, "end_pos": 208, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15553", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15553" }, { "database": "PubMed", "id": "32601469", "url": "https://glygen.org/publication/PubMed/32601469" } ], "site_lbl": "Ser208" }, { "start_pos": 242, "end_pos": 242, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" }, { "database": "PubMed", "id": "27030597", "url": "https://glygen.org/publication/PubMed/27030597" }, { "database": "iPTMnet", "id": "O15553", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15553" }, { "database": "PubMed", "id": "31589380", "url": "https://glygen.org/publication/PubMed/31589380" }, { "database": "PubMed", "id": "32601469", "url": "https://glygen.org/publication/PubMed/32601469" } ], "site_lbl": "Ser242" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Pyrin/marenostrin mutations in familial Mediterranean fever.", "journal": "QJM : monthly journal of the Association of Physicians", "date": "1998", "authors": "Booth DR, Gillmore JD, Booth SE, Pepys MB, Hawkins PN", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "reference": [ { "type": "PubMed", "id": "10024914", "url": "https://glygen.org/publication/PubMed/10024914" } ] }, { "title": "Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.", "journal": "Am. J. Hum. Genet.", "date": "1999", "authors": "Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae J J, Oddoux C, Wood G, Azzaro M P, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner D L", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "reference": [ { "type": "PubMed", "id": "10090880", "url": "https://glygen.org/publication/PubMed/10090880" } ] }, { "title": "Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.", "journal": "European journal of human genetics : EJHG", "date": "1999", "authors": "Shohat M, Magal N, Shohat T, Chen X, Dagan T, Mimouni A, Danon Y, Lotan R, Ogur G, Sirin A, Schlezinger M, Halpern GJ, Schwabe A, Kastner D, Rotter JI, Fischel-Ghodsian N", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "reference": [ { "type": "PubMed", "id": "10234504", "url": "https://glygen.org/publication/PubMed/10234504" } ] }, { "title": "MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.", "journal": "American journal of human genetics", "date": "1999", "authors": "Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dode C, Grateau G, Amselem S", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "reference": [ { "type": "PubMed", "id": "10364520", "url": "https://glygen.org/publication/PubMed/10364520" } ] }, { "title": "MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.", "journal": "Human mutation", "date": "2000", "authors": "Akar N, Misiroglu M, Yalcinkaya F, Akar E, Cakar N, Tumer N, Akcakus M, Tastan H, Matzner Y", "evidence": [ { 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"https://glygen.org/publication/PubMed/2182768" } ] }, { "title": "High Frequency of Inherited Variants in the MEFV Gene in Acute Lymphocytic Leukemia.", "journal": "Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion", "date": "2011", "authors": "Sayan O, Kilicaslan E, Celik S, Tangi F, Erikci AA, Ipcioglu O, Sanisoglu YS, Nalbant S, Oktenli C", "evidence": [ { "database": "Entrez", "id": "4210", "url": "https://www.ncbi.nlm.nih.gov/gene/4210" } ], "reference": [ { "type": "PubMed", "id": "22942567", "url": "https://glygen.org/publication/PubMed/22942567" } ] }, { "title": "Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.", "journal": "Gene", "date": "2012", "authors": "Yesilada E, Taskapan H, Gulbay G", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], 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"iPTMnet", "id": "O15553", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15553" } ], "reference": [ { "type": "PubMed", "id": "31589380", "url": "https://glygen.org/publication/PubMed/31589380" } ] }, { "title": "Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.", "journal": "Nature immunology", "date": "2020", "authors": "Park YH, Remmers EF, Lee W, Ombrello AK, Chung LK, Shilei Z, Stone DL, Ivanov MI, Loeven NA, Barron KS, Hoffmann P, Nehrebecky M, Akkaya-Ulum YZ, Sag E, Balci-Peynircioglu B, Aksentijevich I, Gul A, Rotimi CN, Chen H, Bliska JB, Ozen S, Kastner DL, Shriner D, Chae JJ", "evidence": [ { "database": "iPTMnet", "id": "O15553", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15553" } ], "reference": [ { "type": "PubMed", "id": "32601469", "url": "https://glygen.org/publication/PubMed/32601469" } ] }, { "title": "Beh\u00e7et disease, familial Mediterranean fever and MEFV variations: More than just an association.", "journal": "Clinical immunology (Orlando, Fla.)", "date": "2023-06", "authors": "Seyahi Emire, Ugurlu Serdal, Amikishiyev Shirkhan, Gul Ahmet", "evidence": [ { "database": "RefSeq", "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234" } ], "reference": [ { "type": "PubMed", "id": "37216220", "url": "https://glygen.org/publication/PubMed/37216220" } ] }, { "title": "Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case-control association study among Iranian children.", "journal": "Reumatologia clinica", "date": "2023", "authors": "Mohebichamkhorami Fariba, Shiari Reza, Afzali Shervin, Farivar Shirin", "evidence": [ { "database": "RefSeq", "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234" } ], "reference": [ { "type": "PubMed", "id": "37286266", "url": "https://glygen.org/publication/PubMed/37286266" } ] }, { "title": "A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes.", "journal": "JCI insight", "date": "2023-10-09", "authors": "Wang Qintao, Jin Taijie, Jian Shan, Han Xu, Song Hongmei, Zhou Qing, Yu Xiaomin", "evidence": [ { "database": "RefSeq", "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234" } ], "reference": [ { "type": "PubMed", "id": "37676738", "url": "https://glygen.org/publication/PubMed/37676738" } ] }, { "title": "Phosphoprotein phosphatase activity positively regulates oligomeric pyrin to trigger inflammasome assembly in phagocytes.", "journal": "mBio", "date": "2023-10-31", "authors": "Malik Haleema S, Magnotti Flora, Loeven Nicole A, Delgado Jose M, Kettenbach Arminja N, Henry Thomas, Bliska James B", "evidence": [ { "database": "RefSeq", "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234" } ], "reference": [ { "type": "PubMed", "id": "37787552", "url": "https://glygen.org/publication/PubMed/37787552" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15553", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15553" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "ATP induces nucleotide permeability in rat mast cells.", "journal": "Nature", "date": "1979", "authors": "Cockcroft S, Gomperts BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "450099", "url": "https://glygen.org/publication/PubMed/450099" } ] }, { "title": "Purinoceptor-operated cationic channels in human B lymphocytes.", "journal": "The Journal of physiology", "date": "1997", "authors": "Markwardt F, Lohn M, Bohm T, Klapperstuck M", "evidence": [ { "database": "Reactome", "id": "R-HSA-844456", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-844456" } ], "reference": [ { "type": "PubMed", "id": "9023774", "url": "https://glygen.org/publication/PubMed/9023774" } ] }, { "title": "A candidate gene for familial Mediterranean fever.", "journal": "Nature genetics", "date": "1997", "authors": "Bernot A, Clepet C, Dasilva C, Devaud C, Petit JL, Caloustian C, Cruaud C, Samson D, Pulcini F, Weissenbach J, Heilig R, Notanicola C, Domingo C, Rozenbaum M, Benchetrit E, Topaloglu R, Dewalle M, Dross C, Hadjari P, Dupont M, Demaille J, Touitou I, Smaoui N, Nedelec B, Mery JP, Chaabouni H, Delpech M, Grateau G", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "reference": [ { "type": "PubMed", "id": "9288094", "url": "https://glygen.org/publication/PubMed/9288094" } ] }, { "title": "Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.", "journal": "Cell", "date": "1997", "authors": "author information missing", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "reference": [ { "type": "PubMed", "id": "9288758", "url": "https://glygen.org/publication/PubMed/9288758" } ] }, { "title": "Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).", "journal": "Human molecular genetics", "date": "1998", "authors": "Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dode C, Pecheux C, Nedelec B, Medaxian J, Rozenbaum M, Rosner I, Delpech M, Grateau G, Demaille J, Weissenbach J, Touitou I", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "reference": [ { "type": "PubMed", "id": "9668175", "url": "https://glygen.org/publication/PubMed/9668175" } ] } ], 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"" }, { "name": "negative regulation of macrophage inflammatory protein 1 alpha production", "id": "GO:0071641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071641", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" }, { "name": "pyroptosome complex assembly", "id": "GO:1904270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904270", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" }, { "name": "negative regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900226", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": 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"url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 11, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "O15553", "url": "https://www.uniprot.org/uniprot/O15553" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", 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