{ "uniprot_canonical_ac": "O95817-1", "uniprot_ac": "O95817", "uniprot_id": "BAG3_HUMAN", "mass": { "chemical_mass": 61595.0, "monoisotopic_mass": 61595.0 }, "refseq": { "ac": "NP_004272", "name": "BAG family molecular chaperone regulator 3", "summary": "BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272" }, "gene_names": [ { "name": "BAG3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95817", "id": "O95817" }, { "name": "BAG-3; BIS; CAIR-1; MFM6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272", "id": "NP_004272" }, { "name": "BAG3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272", "id": "NP_004272" }, { "name": "BIS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95817", "id": "O95817" } ], "protein_names": [ { "name": "BAG family molecular chaperone regulator 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95817" }, { "name": "BAG family molecular chaperone regulator 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272", "id": "NP_004272" }, { "name": "BAG-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95817" }, { "name": "BCL2-binding athanogene 3; docking protein CAIR-1; bcl-2-binding protein Bis; BCL2 associated athanogene 3; Bcl-2-binding protein BIS transcript 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272", "id": "NP_004272" }, { "name": "Bcl-2-associated athanogene 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95817" }, { "name": "Bcl-2-binding protein Bis", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95817" }, { "name": "Docking protein CAIR-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95817" } ], "function": [ { "annotation": "BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272" } ] }, { "annotation": "BAG3: Nature's Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272" }, { "database": "PubMed", "id": "36980278", "url": "https://glygen.org/publication/PubMed/36980278" } ] }, { "annotation": "Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70 (PubMed:9873016, PubMed:27474739). Has anti-apoptotic activity (PubMed:10597216). Plays a role in the HSF1 nucleocytoplasmic transport (PubMed:26159920).", "evidence": [ { "database": "UniProtKB", "id": "O95817", "url": "https://www.uniprot.org/uniprot/O95817#function" }, { "database": "PubMed", "id": "26159920", "url": "https://glygen.org/publication/PubMed/26159920" }, { "database": "PubMed", "id": "9873016", "url": "https://glygen.org/publication/PubMed/9873016" }, { "database": "PubMed", "id": "10597216", "url": "https://glygen.org/publication/PubMed/10597216" }, { "database": "PubMed", "id": "27474739", "url": "https://glygen.org/publication/PubMed/27474739" }, { "database": "PubMed", "id": "24318877", "url": "https://glygen.org/publication/PubMed/24318877" } ] }, { "annotation": "Dysregulated Autophagy and Sarcomere Dysfunction in Patients With Heart Failure With Co-Occurrence of P63A and P380S BAG3 Variants.", "evidence": [ { "database": "RefSeq", "id": "NP_004272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272" }, { "database": "PubMed", "id": "38108245", "url": "https://glygen.org/publication/PubMed/38108245" } ] }, { "annotation": "MiR-135a-5p suppresses breast cancer cell proliferation, migration, and invasion by regulating BAG3. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272" }, { "database": "PubMed", "id": "36228497", "url": "https://glygen.org/publication/PubMed/36228497" } ] }, { "annotation": "Unraveling the mystery: How bad is BAG3 in hematological malignancies? Review article", "evidence": [ { "database": "RefSeq", "id": "NP_004272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272" }, { "database": "PubMed", "id": "35985611", "url": "https://glygen.org/publication/PubMed/35985611" } ] } ], "disease": [ { "disease_id": "DOID:0080097", "recommended_name": { "id": "DOID:0080097", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080097", "name": "myofibrillar myopathy 6", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myofibrillar myopathy 6", "description": "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly." }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "BAG3 myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myofibrillar myopathy (disease) caused by mutation in BAG3", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myofibrillar myopathy 6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myofibrillar myopathy type 6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myopathy, myofibrillar, type 6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "BAG3-related myofibrillar myopathy", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "MFM6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "muscular dystrophy, Selcen type", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myopathy, myofibrillar, 6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myopathy, myofibrillar, Bag3-related", "description": "" }, { "id": "MIM:612954", "resource": "MIM", "url": "https://www.omim.org/entry/612954", "name": "Myopathy, myofibrillar, 6", "description": "Myopathy, myofibrillar, 6" } ], "evidence": [ { "id": "612954", "database": "MIM", "url": "https://www.omim.org/entry/612954" } ] }, { "disease_id": "DOID:0110448", "recommended_name": { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "dilated cardiomyopathy 1HH", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11." }, "synonyms": [ { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "CMD1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "dilated cardiomyopathy 1HH", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "BAG3 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "CMD1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "cardiomyopathy, dilated, type 1Hh", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "dilated cardiomyopathy type 1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "familial isolated dilated cardiomyopathy caused by mutation in BAG3", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "cardiomyopathy, dilated, 1HH", "description": "" }, { "id": "MIM:613881", "resource": "MIM", "url": "https://www.omim.org/entry/613881", "name": "Cardiomyopathy, dilated, 1HH", "description": "Cardiomyopathy, dilated, 1HH" } ], "evidence": [ { "id": "613881", "database": "MIM", "url": "https://www.omim.org/entry/613881" } ] } ], "snv": [ { "evidence": [ { "id": "rs774506265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774506265" }, { "id": "rs774506265", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774506265#frequency_tab" }, { "id": "rs774506265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774506265" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 144, "end_pos": 144, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "10", "chr_pos": "119670100", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T144", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs143756613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143756613" }, { "id": "rs143756613", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143756613" }, { "id": "rs143756613", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143756613#frequency_tab" }, { "id": "rs143756613", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143756613" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 165, "end_pos": 165, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "10", "chr_pos": "119670164", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S165", "disease": [ { "disease_id": "DOID:0110448", "recommended_name": { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "dilated cardiomyopathy 1HH", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11." }, "synonyms": [ { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "CMD1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "dilated cardiomyopathy 1HH", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "BAG3 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "CMD1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": 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"A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myofibrillar myopathy 6", "description": "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. 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"https://monarchinitiative.org/disease/MONDO:0013061", "name": "BAG3-related myofibrillar myopathy", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "MFM6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "muscular dystrophy, Selcen type", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myopathy, myofibrillar, 6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myopathy, myofibrillar, Bag3-related", "description": "" }, { "id": "MIM:612954", "resource": "MIM", "url": "https://www.omim.org/entry/612954", "name": "Myopathy, myofibrillar, 6", "description": "Myopathy, myofibrillar, 6" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs794728978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs794728978" }, { "id": "rs794728978", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs794728978" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 171, "end_pos": 171, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "10", "chr_pos": "119672259", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1420081154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420081154" }, { "id": "rs1420081154", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420081154" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 177, "end_pos": 177, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "10", "chr_pos": "119672276", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S177", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1482925321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482925321" }, { "id": "rs1482925321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1482925321#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 181, "end_pos": 181, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "10", "chr_pos": "119672289", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S181", "disease": [ { "disease_id": "DOID:0110448", "recommended_name": { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "dilated cardiomyopathy 1HH", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11." }, "synonyms": [ { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "CMD1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "dilated cardiomyopathy 1HH", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "BAG3 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "CMD1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "cardiomyopathy, dilated, type 1Hh", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "dilated cardiomyopathy type 1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "familial isolated dilated cardiomyopathy caused by mutation in BAG3", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "cardiomyopathy, dilated, 1HH", "description": "" }, { "id": "MIM:613881", "resource": "MIM", "url": "https://www.omim.org/entry/613881", "name": "Cardiomyopathy, dilated, 1HH", "description": "Cardiomyopathy, dilated, 1HH" } ] }, { "disease_id": "DOID:0080097", "recommended_name": { "id": "DOID:0080097", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080097", "name": "myofibrillar myopathy 6", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myofibrillar myopathy 6", "description": "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. 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"http://gnomad.broadinstitute.org/awesome?query=rs368866313" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 291, "end_pos": 291, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "10", "chr_pos": "119672619", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S291", "disease": [ { "disease_id": "DOID:0110448", "recommended_name": { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "dilated cardiomyopathy 1HH", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11." }, "synonyms": [ { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "CMD1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": 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}, { "evidence": [ { "id": "rs376832654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376832654" }, { "id": "rs376832654", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376832654" }, { "id": "rs376832654", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376832654#frequency_tab" }, { "id": "rs376832654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376832654" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 321, "end_pos": 321, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "10", "chr_pos": "119676515", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P321", "disease": [ { "disease_id": "DOID:0110448", "recommended_name": { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "dilated cardiomyopathy 1HH", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11." }, "synonyms": [ { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "CMD1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "dilated cardiomyopathy 1HH", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "BAG3 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "CMD1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "cardiomyopathy, dilated, type 1Hh", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "dilated cardiomyopathy type 1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "familial isolated dilated cardiomyopathy caused by mutation in BAG3", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "cardiomyopathy, dilated, 1HH", "description": "" }, { "id": "MIM:613881", "resource": "MIM", "url": "https://www.omim.org/entry/613881", "name": "Cardiomyopathy, dilated, 1HH", "description": "Cardiomyopathy, dilated, 1HH" } ] }, { "disease_id": "DOID:0080097", "recommended_name": { "id": "DOID:0080097", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080097", "name": "myofibrillar myopathy 6", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myofibrillar myopathy 6", "description": "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. 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"https://monarchinitiative.org/disease/MONDO:0013061", "name": "BAG3-related myofibrillar myopathy", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "MFM6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "muscular dystrophy, Selcen type", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myopathy, myofibrillar, 6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myopathy, myofibrillar, Bag3-related", "description": "" }, { "id": "MIM:612954", "resource": "MIM", "url": "https://www.omim.org/entry/612954", "name": "Myopathy, myofibrillar, 6", "description": "Myopathy, myofibrillar, 6" } ] } ], "keywords": [ "ebi", "germline", "disease" ] 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"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" } ] }, { "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 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"n-glyco-sequon-gain" ], "start_pos": 562, "end_pos": 562, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "10", "chr_pos": "119677239", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P562", "disease": [ { "disease_id": "DOID:0110448", "recommended_name": { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "dilated cardiomyopathy 1HH", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11." }, "synonyms": [ { "id": "DOID:0110448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110448", "name": "CMD1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "dilated cardiomyopathy 1HH", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "BAG3 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "CMD1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "cardiomyopathy, dilated, type 1Hh", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "dilated cardiomyopathy type 1HH", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "familial isolated dilated cardiomyopathy caused by mutation in BAG3", "description": "" }, { "id": "MONDO:0013479", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013479", "name": "cardiomyopathy, dilated, 1HH", "description": "" }, { "id": "MIM:613881", "resource": "MIM", "url": "https://www.omim.org/entry/613881", "name": "Cardiomyopathy, dilated, 1HH", "description": "Cardiomyopathy, dilated, 1HH" } ] }, { "disease_id": "DOID:0080097", "recommended_name": { "id": "DOID:0080097", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080097", "name": "myofibrillar myopathy 6", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myofibrillar myopathy 6", "description": "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly." }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "BAG3 myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myofibrillar myopathy (disease) caused by mutation in BAG3", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myofibrillar myopathy 6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myofibrillar myopathy type 6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myopathy, myofibrillar, type 6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "BAG3-related myofibrillar myopathy", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "MFM6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "muscular dystrophy, Selcen type", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myopathy, myofibrillar, 6", "description": "" }, { "id": "MONDO:0013061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013061", "name": "myopathy, myofibrillar, Bag3-related", "description": "" }, { "id": "MIM:612954", "resource": "MIM", "url": "https://www.omim.org/entry/612954", "name": "Myopathy, myofibrillar, 6", "description": "Myopathy, myofibrillar, 6" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O95817", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95817" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 562, "end_pos": 562, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "10", "chr_pos": "119677238", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P562", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs796599978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs796599978" }, { "id": "rs796599978", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs796599978" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 65, "end_pos": 65, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "10", "chr_pos": "119669864", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S65", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 480, "end_pos": 481, "sequence_org": "RR", "sequence_mut": "AA", "comment": "Significant loss of interaction with HSPA8.", "evidence": [ { "database": "UniProtKB", "id": "O95817", "url": "https://www.uniprot.org/uniprot/O95817" }, { "database": "PubMed", "id": "27474739", "url": "https://glygen.org/publication/PubMed/27474739" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "95.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151929" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95817" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", 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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:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", 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"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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95817" } ], "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", 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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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"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 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"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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95817", "url": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95817" } ], "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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95817" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95817" } ], "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": "O95817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95817" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95817" } ], "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": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95817", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95817" } ], "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": 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036533", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036533", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039773", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039773", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9531", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9531", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603883", "url": "http://www.omim.org/entry/603883", "database": "MIM", "categories": [ "Other" ] }, { "id": "612954", "url": "http://www.omim.org/entry/612954", "database": "MIM", "categories": [ "Other" ] }, { "id": "613881", "url": "http://www.omim.org/entry/613881", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95817", "url": "https://www.nextprot.org/entry/NX_O95817", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95817", "url": "https://oglcnac.org/atlas/detail/O95817", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O95817", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95817", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "QKGEPSM", "url": "https://omabrowser.org/oma/group/QKGEPSM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5353777at2759", "url": "http://www.orthodb.org/?query=5353777at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12329", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12329", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12329:SF12", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12329:SF12", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00397", "url": "http://pfam.xfam.org/family/PF00397", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02179", "url": "http://pfam.xfam.org/family/PF02179", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95817", "url": "https://pharos.nih.gov/targets/O95817", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95817", "url": "http://purl.obolibrary.org/obo/PR_O95817", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9JFK9", "url": "https://www.uniprot.org/uniprot/C9JFK9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JFK9-1", "url": "https://www.uniprot.org/uniprot/C9JFK9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95817", "url": "https://www.uniprot.org/uniprot/O95817", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95817-1", "url": "https://www.uniprot.org/uniprot/O95817-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPKETPSSANGPSREGSRLPPAREGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAAQPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEYQTHQPVYHKIQGDDWEPRPLRAASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVDRPQQPMTHRETAPVSQPENKPESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPSTAPAEATPPKPGEAEAPPKHPGVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQARRDGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAGNAEDPHTETQQPEATAAATSNPSSMTDTPGNPAAP", "length": 575, "header": "sp|O95817-1|BAG3_HUMAN Isoform 1 of BAG family molecular chaperone regulator 3 OS=Homo sapiens OX=9606 GN=BAG3 PE=1 SV=3 CANONICAL=O95817-1" }, "isoforms": [ { "isoform_ac": "C9JFK9-1", "url": "", "sequence": { "sequence": "MQETPSSANGPSREGSRLPPAREGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAAQPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEYQTHQPVYHKIQGDDWEPRPLRAASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVDRPQPMTHRETAPVSQPENKPESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVP", "length": 325, "header": "tr|C9JFK9-1|BAG3_HUMAN Computationally mapped isoform of BAG family molecular chaperone regulator 3 OS=Homo sapiens OX=9606 GN=BAG3 PE=1 SV=1 CANONICAL=O95817-1" }, "locus": { "chromosome": "10", "start_pos": 119676706, "end_pos": 119657563, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450186.1", "url": "https://www.ensembl.org/id/ENST00000450186.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000410036.1", "url": "https://www.ensembl.org/id/ENSP00000410036.1" } ] } }, { "isoform_ac": "O95817-1", "url": "", "sequence": { "sequence": "MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPKETPSSANGPSREGSRLPPAREGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAAQPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEYQTHQPVYHKIQGDDWEPRPLRAASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVDRPQQPMTHRETAPVSQPENKPESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPSTAPAEATPPKPGEAEAPPKHPGVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQARRDGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAGNAEDPHTETQQPEATAAATSNPSSMTDTPGNPAAP", "length": 575, "header": "sp|O95817-1|BAG3_HUMAN Isoform 1 of BAG family molecular chaperone regulator 3 OS=Homo sapiens OX=9606 GN=BAG3 PE=1 SV=3 CANONICAL=O95817-1" }, "locus": { "chromosome": "10", "start_pos": 119677279, "end_pos": 119651676, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369085.8", "url": "https://www.ensembl.org/id/ENST00000369085.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000358081.4", "url": "https://www.ensembl.org/id/ENSP00000358081.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 124, "start_aa": "Thr", "end_pos": 124, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr124", "evidence": [ { "id": "O95817", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95817" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "O95817", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95817" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 144, "start_aa": "Thr", "end_pos": 144, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr144", "evidence": [ { "id": "O95817", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95817" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "O95817", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95817" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 145, "start_aa": "Thr", "end_pos": 145, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr145", "evidence": [ { "id": "O95817", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95817" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "O95817", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95817" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 165, "start_aa": "Ser", "end_pos": 165, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser165", "evidence": [ { "id": "O95817", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95817" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "O95817", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95817" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 171, "start_aa": "Ser", "end_pos": 171, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser171", "evidence": [ { "id": "O95817", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95817" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 177, "start_aa": "Ser", "end_pos": 177, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser177", "evidence": [ { "id": "O95817", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95817" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 180, "start_aa": "Ser", "end_pos": 180, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser180", "evidence": [ { "id": "O95817", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95817" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "O95817", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95817" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 181, "start_aa": "Ser", "end_pos": 181, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser181", "evidence": [ { "id": "O95817", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95817" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "37340703", 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