{ "uniprot_canonical_ac": "O95429-1", "uniprot_ac": "O95429", "uniprot_id": "BAG4_HUMAN", "mass": { "chemical_mass": 49594.0, "monoisotopic_mass": 49594.0 }, "refseq": { "ac": "NP_001191807", "name": "BAG family molecular chaperone regulator 4 isoform 2", "summary": "The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807" }, "gene_names": [ { "name": "BAG4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95429", "id": "O95429" }, { "name": "BAG-4; SODD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807", "id": "NP_001191807" }, { "name": "BAG4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807", "id": "NP_001191807" }, { "name": "SODD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95429", "id": "O95429" } ], "protein_names": [ { "name": "BAG family molecular chaperone regulator 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95429" }, { "name": "BAG family molecular chaperone regulator 4 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807", "id": "NP_001191807" }, { "name": "BAG-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95429" }, { "name": "Bcl-2-associated athanogene 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95429" }, { "name": "Silencer of death domains", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95429" }, { "name": "silencer of death domains; BAG family molecular chaperone regulator 4; bcl-2-associated athanogene 4; BCL2 associated athanogene 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807", "id": "NP_001191807" } ], "function": [ { "annotation": "Altered signaling of TNFalpha-TNFR1 and SODD/BAG4 is responsible for radioresistance in human HT-R15 cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001191807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807" }, { "database": "PubMed", "id": "12017295", "url": "https://glygen.org/publication/PubMed/12017295" } ] }, { "annotation": "Bcl2-associated athanogene 4 promotes the invasion and metastasis of gastric cancer cells by activating the PI3K/AKT/NF-kappaB/ZEB1 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001191807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807" }, { "database": "PubMed", "id": "34419501", "url": "https://glygen.org/publication/PubMed/34419501" } ] }, { "annotation": "Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release (By similarity). Prevents constitutive TNFRSF1A signaling. Negative regulator of PRKN translocation to damaged mitochondria.", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429#function" }, { "database": "PubMed", "id": "24270810", "url": "https://glygen.org/publication/PubMed/24270810" } ] }, { "annotation": "SODD Promotes Lung Cancer Tumorigenesis by Activating the PDK1/AKT and RAF/MEK/ERK Signaling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001191807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807" }, { "database": "PubMed", "id": "37107587", "url": "https://glygen.org/publication/PubMed/37107587" } ] }, { "annotation": "The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001191807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs768134811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768134811" }, { "id": "rs768134811", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768134811" }, { "id": "rs768134811", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768134811#frequency_tab" }, { "id": "rs768134811", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768134811" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 274, "end_pos": 274, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "8", "chr_pos": "38209200", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S274", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201044060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201044060" }, { "id": "rs201044060", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201044060" }, { "id": "rs201044060", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201044060#frequency_tab" }, { "id": "rs201044060", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201044060" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 330, "end_pos": 330, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "8", "chr_pos": "38210107", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D330", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1363773740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1363773740" }, { "id": "rs1363773740", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1363773740#frequency_tab" }, { "id": "rs1363773740", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1363773740" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 362, "end_pos": 362, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "8", "chr_pos": "38210204", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S362", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 414, "end_pos": 414, "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces interaction with HSP70.", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" }, { "database": "PubMed", "id": "12058034", "url": "https://glygen.org/publication/PubMed/12058034" } ] }, { "start_pos": 424, "end_pos": 424, "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes interaction with HSP70.", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" }, { "database": "PubMed", "id": "12058034", "url": "https://glygen.org/publication/PubMed/12058034" } ] }, { "start_pos": 438, "end_pos": 439, "sequence_org": "RK", "sequence_mut": "AA", "comment": "Reduces interaction with HSP70.", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" }, { "database": "PubMed", "id": "12058034", "url": "https://glygen.org/publication/PubMed/12058034" } ] }, { "start_pos": 446, "end_pos": 446, "sequence_org": "Q", "sequence_mut": "A", "comment": "Abolishes interaction with HSP70.", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" }, { "database": "PubMed", "id": "12058034", "url": "https://glygen.org/publication/PubMed/12058034" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "70.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "67.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "77.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "75.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "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 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "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": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "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": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "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": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "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": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O95429", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95429" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "common_name": "Human" } ], "gene": [ { "name": "BAG4", "url": "https://www.uniprot.org/uniprot/O95429", "locus": { "chromosome": "8", "start_pos": 38213301, "end_pos": 38176533, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000156735", "url": "https://www.ensembl.org/id/ENSG00000156735" } ] } } ], "crossref": [ { "id": "ENSG00000156735", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156735", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "BAG4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAG4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9530", "url": "https://www.ncbi.nlm.nih.gov/gene/9530", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "940", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=940", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95429", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95429*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003103", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003103", "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:9530", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9530", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603884", "url": "http://www.omim.org/entry/603884", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95429", "url": "https://www.nextprot.org/entry/NX_O95429", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95429", "url": "https://oglcnac.org/atlas/detail/O95429", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O95429", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95429", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WNSARPR", "url": "https://omabrowser.org/oma/group/WNSARPR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5320815at2759", "url": "http://www.orthodb.org/?query=5320815at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12329", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12329", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12329:SF10", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12329:SF10", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1M62", "url": "https://www.rcsb.org/structure/1M62", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1M7K", "url": "https://www.rcsb.org/structure/1M7K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF02179", "url": "http://pfam.xfam.org/family/PF02179", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95429", "url": "https://pharos.nih.gov/targets/O95429", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95429", "url": "http://purl.obolibrary.org/obo/PR_O95429", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-75893", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75893", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8853336", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853336", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001191807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0YBT1", "url": "https://www.uniprot.org/uniprot/H0YBT1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBT1-1", "url": "https://www.uniprot.org/uniprot/H0YBT1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95429-1", "url": "https://www.uniprot.org/uniprot/O95429-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95429-2", "url": "https://www.uniprot.org/uniprot/O95429-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSALRRSGYGPSDGPSYGRYYGPGGGDVPVHPPPPLYPLRPEPPQPPISWRVRGGGPAETTWLGEGGGGDGYYPSGGAWPEPGRAGGSHQEQPPYPSYNSNYWNSTARSRAPYPSTYPVRPELQGQSLNSYTNGAYGPTYPPGPGANTASYSGAYYAPGYTQTSYSTEVPSTYRSSGNSPTPVSRWIYPQQDCQTEAPPLRGQVPGYPPSQNPGMTLPHYPYGDGNRSVPQSGPTVRPQEDAWASPGAYGMGGRYPWPSSAPSAPPGNLYMTESTSPWPSSGSPQSPPSPPVQQPKDSSYPYSQSDQSMNRHNFPCSVHQYESSGTVNNDDSDLLDSQVQYSAEPQLYGNATSDHPNNQDQSSSLPEECVPSDESTPPSIKKIIHVLEKVQYLEQEVEEFVGKKTDKAYWLLEEMLTKELLELDSVETGGQDSVRQARKEAVCKIQAILEKLEKKGL", "length": 457, "header": "sp|O95429-1|BAG4_HUMAN Isoform 1 of BAG family molecular chaperone regulator 4 OS=Homo sapiens OX=9606 GN=BAG4 PE=1 SV=1 CANONICAL=O95429-1" }, "isoforms": [ { "isoform_ac": "H0YBT1-1", "url": "", "sequence": { "sequence": "AYYAPGYTQTSYSTEVPSTYRSSGNSPTPVSRWIYPQQDCQTEAPPLRGQVPGYPPSQNPGMTLPHYPYGDGNRSVPQSGPTVRPQEDAWASPGAYGMGGRYPWPSSAPSAPPGNLYMTESTSPWPSSGSPQSPPSPPVQQPKVGDLNVVPLMCV", "length": 155, "header": "tr|H0YBT1-1|H0YBT1_HUMAN Computationally mapped isoform of BAG cochaperone 4 OS=Homo sapiens OX=9606 GN=BAG4 PE=1 SV=1 CANONICAL=O95429-1" }, "locus": { "chromosome": "8", "start_pos": 38209303, "end_pos": 38207593, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521311.1", "url": "https://www.ensembl.org/id/ENST00000521311.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000430250.1", "url": "https://www.ensembl.org/id/ENSP00000430250.1" } ] } }, { "isoform_ac": "O95429-1", "url": "", "sequence": { "sequence": "MSALRRSGYGPSDGPSYGRYYGPGGGDVPVHPPPPLYPLRPEPPQPPISWRVRGGGPAETTWLGEGGGGDGYYPSGGAWPEPGRAGGSHQEQPPYPSYNSNYWNSTARSRAPYPSTYPVRPELQGQSLNSYTNGAYGPTYPPGPGANTASYSGAYYAPGYTQTSYSTEVPSTYRSSGNSPTPVSRWIYPQQDCQTEAPPLRGQVPGYPPSQNPGMTLPHYPYGDGNRSVPQSGPTVRPQEDAWASPGAYGMGGRYPWPSSAPSAPPGNLYMTESTSPWPSSGSPQSPPSPPVQQPKDSSYPYSQSDQSMNRHNFPCSVHQYESSGTVNNDDSDLLDSQVQYSAEPQLYGNATSDHPNNQDQSSSLPEECVPSDESTPPSIKKIIHVLEKVQYLEQEVEEFVGKKTDKAYWLLEEMLTKELLELDSVETGGQDSVRQARKEAVCKIQAILEKLEKKGL", "length": 457, "header": "sp|O95429-1|BAG4_HUMAN Isoform 1 of BAG family molecular chaperone regulator 4 OS=Homo sapiens OX=9606 GN=BAG4 PE=1 SV=1 CANONICAL=O95429-1" }, "locus": { "chromosome": "8", "start_pos": 38210490, "end_pos": 38176870, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000287322.5", "url": "https://www.ensembl.org/id/ENST00000287322.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000287322.4", "url": "https://www.ensembl.org/id/ENSP00000287322.4" } ] } }, { "isoform_ac": "O95429-2", "url": "", "sequence": { "sequence": "MSALRRSGYGPSDGPSYGRYYGPGGGDVPVHPPPPLYPLRPEPPQPPISWRVRGGGPAETTWLGEGGGGDGYYPSGGAWPEPGRAGGSHQSLNSYTNGAYGPTYPPGPGANTASYSGAYYAPGYTQTSYSTEVPSTYRSSGNSPTPVSRWIYPQQDCQTEAPPLRGQVPGYPPSQNPGMTLPHYPYGDGNRSVPQSGPTVRPQEDAWASPGAYGMGGRYPWPSSAPSAPPGNLYMTESTSPWPSSGSPQSPPSPPVQQPKDSSYPYSQSDQSMNRHNFPCSVHQYESSGTVNNDDSDLLDSQVQYSAEPQLYGNATSDHPNNQDQSSSLPEECVPSDESTPPSIKKIIHVLEKVQYLEQEVEEFVGKKTDKAYWLLEEMLTKELLELDSVETGGQDSVRQARKEAVCKIQAILEKLEKKGL", "length": 421, "header": "sp|O95429-2|BAG4_HUMAN Isoform 2 of BAG family molecular chaperone regulator 4 OS=Homo sapiens OX=9606 GN=BAG4 PE=1 SV=1 CANONICAL=O95429-1" }, "locus": { "chromosome": "8", "start_pos": 38210490, "end_pos": 38176870, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432471.6", "url": "https://www.ensembl.org/id/ENST00000432471.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000393298.2", "url": "https://www.ensembl.org/id/ENSP00000393298.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 303, "start_aa": "Ser", "end_pos": 303, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser303", "evidence": [ { "id": "O95429", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95429" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95429", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95429" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] } ], "phosphorylation": [ { "start_pos": 179, "end_pos": 179, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95429" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser179" }, { "start_pos": 181, "end_pos": 181, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95429" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Thr181" }, { "start_pos": 7, "end_pos": 7, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95429" } ], "site_lbl": "Ser7" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Phospholipase C-gamma as a signal-transducing element.", "journal": "Experimental cell research", "date": "1999", "authors": "Carpenter G, Ji Qs", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "10579907", "url": "https://glygen.org/publication/PubMed/10579907" } ] }, { "title": "Tyrosine 766 in the fibroblast growth factor receptor-1 is required for FGF-stimulation of phospholipase C, phospholipase D, phospholipase A(2), phosphoinositide 3-kinase and cytoskeletal reorganisation in porcine aortic endothelial cells.", "journal": "Journal of cell science", "date": "2000", "authors": "Cross MJ, Hodgkin MN, Roberts S, Landgren E, Wakelam MJ, Claesson-Welsh L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "10652257", "url": "https://glygen.org/publication/PubMed/10652257" } ] }, { "title": "Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4.", "journal": "Oncogene", "date": "2000", "authors": "Hart KC, Robertson SC, Kanemitsu MY, Meyer AN, Tynan JA, Donoghue DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "10918587", "url": "https://glygen.org/publication/PubMed/10918587" } ] }, { "title": "Identification of Mrj, a DnaJ/Hsp40 family protein, as a keratin 8/18 filament regulatory protein.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Izawa I, Nishizawa M, Ohtakara K, Ohtsuka K, Inada H, Inagaki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "10954706", "url": "https://glygen.org/publication/PubMed/10954706" } ] }, { "title": "Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma.", "journal": "Blood", "date": "2001", "authors": "Chesi M, Brents LA, Ely SA, Bais C, Robbiani DF, Mesri EA, Kuehl WM, Bergsagel PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11157491", "url": "https://glygen.org/publication/PubMed/11157491" } ] }, { "title": "Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations.", "journal": "Oncogene", "date": "2001", "authors": "Ronchetti D, Greco A, Compasso S, Colombo G, Dell'Era P, Otsuki T, Lombardi L, Neri A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11429702", "url": "https://glygen.org/publication/PubMed/11429702" } ] }, { "title": "8p12 stem cell myeloproliferative disorder: the FOP-fibroblast growth factor receptor 1 fusion protein of the t(6;8) translocation induces cell survival mediated by mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt/mTOR pathways.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Guasch G, Ollendorff V, Borg JP, Birnbaum D, Pebusque MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11689702", "url": "https://glygen.org/publication/PubMed/11689702" } ] }, { "title": "The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins.", "journal": "Blood", "date": "2001", "authors": "Demiroglu A, Steer EJ, Heath C, Taylor K, Bentley M, Allen SL, Koduru P, Brody JP, Hawson G, Rodwell R, Doody ML, Carnicero F, Reiter A, Goldman JM, Melo JV, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "11739186", "url": "https://glygen.org/publication/PubMed/11739186" } ] }, { "title": "Chemistry of gene silencing: the mechanism of NAD+-dependent deacetylation reactions.", "journal": "Biochemistry", "date": "2001", "authors": "Sauve AA, Celic I, Avalos J, Deng H, Boeke JD, Schramm VL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "11747420", "url": "https://glygen.org/publication/PubMed/11747420" } ] }, { "title": "Altered signaling of TNFalpha-TNFR1 and SODD/BAG4 is responsible for radioresistance in human HT-R15 cells.", "journal": "Anticancer research", "date": "2002", "authors": "Eichholtz-Wirth H, Sagan D", "evidence": [ { "database": "RefSeq", "id": "NP_001191807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807" } ], "reference": [ { "type": "PubMed", "id": "12017295", "url": "https://glygen.org/publication/PubMed/12017295" } ] }, { "title": "BAG4/SODD protein contains a short BAG domain.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Briknarova K, Takayama S, Homma S, Baker K, Cabezas E, Hoyt DW, Li Z, Satterthwait AC, Ely KR", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "reference": [ { "type": "PubMed", "id": "12058034", "url": "https://glygen.org/publication/PubMed/12058034" } ] }, { "title": "Cofactor Tpr2 combines two TPR domains and a J domain to regulate the Hsp70/Hsp90 chaperone system.", "journal": "The EMBO journal", "date": "2003", "authors": "Brychzy A, Rein T, Winklhofer KF, Hartl FU, Young JC, Obermann WM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "12853476", "url": "https://glygen.org/publication/PubMed/12853476" } ] }, { "title": "Regulation of molecular chaperone gene transcription involves the serine phosphorylation, 14-3-3 epsilon binding, and cytoplasmic sequestration of heat shock factor 1.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Wang X, Grammatikakis N, Siganou A, Calderwood SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "12917326", "url": "https://glygen.org/publication/PubMed/12917326" } ] }, { "title": "Characterization of two isoforms of a human DnaJ homologue, HSJ2.", "journal": "Molecular biology reports", "date": "2003", "authors": "Hanai R, Mashima K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "12974469", "url": "https://glygen.org/publication/PubMed/12974469" } ] }, { "title": "The phosphotyrosine phosphatase SHP2 is a critical mediator of transformation induced by the oncogenic fibroblast growth factor receptor 3.", "journal": "Oncogene", "date": "2003", "authors": "Agazie YM, Movilla N, Ischenko I, Hayman MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "14534538", "url": "https://glygen.org/publication/PubMed/14534538" } ] }, { "title": "Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations.", "journal": "Cancer cell", "date": "2004", "authors": "Roumiantsev S, Krause DS, Neumann CA, Dimitri CA, Asiedu F, Cross NC, Van Etten RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "15050920", "url": "https://glygen.org/publication/PubMed/15050920" } ] }, { "title": "Interactions between extracellular signal-regulated protein kinase 1, 14-3-3epsilon, and heat shock factor 1 during stress.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Wang X, Grammatikakis N, Siganou A, Stevenson MA, Calderwood SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "15364926", "url": "https://glygen.org/publication/PubMed/15364926" } ] }, { "title": "PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Chen J, Deangelo DJ, Kutok JL, Williams IR, Lee BH, Wadleigh M, Duclos N, Cohen S, Adelsperger J, Okabe R, Coburn A, Galinsky I, Huntly B, Cohen PS, Meyer T, Fabbro D, Roesel J, Banerji L, Griffin JD, Xiao S, Fletcher JA, Stone RM, Gilliland DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "15448205", "url": "https://glygen.org/publication/PubMed/15448205" } ] }, { "title": "Release of tumour necrosis factor alpha (TNFalpha) by TNFalpha cleaving enzyme (TACE) in response to septic stimuli in vitro.", "journal": "British journal of anaesthesia", "date": "2005", "authors": "Robertshaw HJ, Brennan FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-75893", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75893" } ], "reference": [ { "type": "PubMed", "id": "15556967", "url": "https://glygen.org/publication/PubMed/15556967" } ] }, { "title": "Human Mpp11 J protein: ribosome-tethered molecular chaperones are ubiquitous.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Hundley HA, Walter W, Bairstow S, Craig EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "15802566", "url": "https://glygen.org/publication/PubMed/15802566" } ] }, { "title": "Intracellular localization and partial amino acid sequence of a stress-inducible 40-kDa protein in HeLa cells.", "journal": "Cell structure and function", "date": "1992", "authors": "Hattori H, Liu YC, Tohnai I, Ueda M, Kaneda T, Kobayashi T, Tanabe K, Ohtsuka K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "1586970", "url": "https://glygen.org/publication/PubMed/1586970" } ] }, { "title": "FGFR3 as a therapeutic target of the small molecule inhibitor PKC412 in hematopoietic malignancies.", "journal": "Oncogene", "date": "2005", "authors": "Chen J, Lee BH, Williams IR, Kutok JL, Mitsiades CS, Duclos N, Cohen S, Adelsperger J, Okabe R, Coburn A, Moore S, Huntly BJ, Fabbro D, Anderson KC, Griffin JD, Gilliland DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "16091734", "url": "https://glygen.org/publication/PubMed/16091734" } ] }, { "title": "Phosphorylation of HSF1 by MAPK-activated protein kinase 2 on serine 121, inhibits transcriptional activity and promotes HSP90 binding.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Wang X, Khaleque MA, Zhao MJ, Zhong R, Gaestel M, Calderwood SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "16278218", "url": "https://glygen.org/publication/PubMed/16278218" } ] }, { "title": "Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hatch NE, Hudson M, Seto ML, Cunningham ML, Bothwell M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "16844695", "url": "https://glygen.org/publication/PubMed/16844695" } ] }, { "title": "AZD2171 shows potent antitumor activity against gastric cancer over-expressing fibroblast growth factor receptor 2/keratinocyte growth factor receptor.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2007", "authors": "Takeda M, Arao T, Yokote H, Komatsu T, Yanagihara K, Sasaki H, Yamada Y, Tamura T, Fukuoka K, Kimura H, Saijo N, Nishio K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "17505008", "url": "https://glygen.org/publication/PubMed/17505008" } ] }, { "title": "A human homologue of the Escherichia coli DnaJ heat-shock protein.", "journal": "Nucleic acids research", "date": "1991", "authors": "Raabe T, Manley JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "1754405", "url": "https://glygen.org/publication/PubMed/1754405" } ] }, { "title": "Mechanism of action of certolizumab pegol (CDP870): in vitro comparison with other anti-tumor necrosis factor alpha agents.", "journal": "Inflammatory bowel diseases", "date": "2007", "authors": "Nesbitt A, Fossati G, Bergin M, Stephens P, Stephens S, Foulkes R, Brown D, Robinson M, Bourne T", "evidence": [ { "database": "Reactome", "id": "R-HSA-75893", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75893" } ], "reference": [ { "type": "PubMed", "id": "17636564", "url": "https://glygen.org/publication/PubMed/17636564" } ] }, { "title": "Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome.", "journal": "Blood", "date": "2007", "authors": "Chase A, Grand FH, Cross NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "17698633", "url": "https://glygen.org/publication/PubMed/17698633" } ] }, { "title": "DBC1 is a negative regulator of SIRT1.", "journal": "Nature", "date": "2008", "authors": "Kim JE, Chen J, Lou Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "18235501", "url": "https://glygen.org/publication/PubMed/18235501" } ] }, { "title": "Negative regulation of the deacetylase SIRT1 by DBC1.", "journal": "Nature", "date": "2008", "authors": "Zhao W, Kruse JP, Tang Y, Jung SY, Qin J, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "18235502", "url": "https://glygen.org/publication/PubMed/18235502" } ] }, { "title": "Involvement of fibroblast growth factor receptor 2 isoform switching in mammary oncogenesis.", "journal": "Molecular cancer research : MCR", "date": "2008", "authors": "Cha JY, Lambert QT, Reuther GW, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18337450", "url": "https://glygen.org/publication/PubMed/18337450" } ] }, { "title": "Extracellular point mutations in FGFR2 elicit unexpected changes in intracellular signalling.", "journal": "The Biochemical journal", "date": "2008", "authors": "Ahmed Z, Schuller AC, Suhling K, Tregidgo C, Ladbury JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18373495", "url": "https://glygen.org/publication/PubMed/18373495" } ] }, { "title": "FGFR2-amplified gastric cancer cell lines require FGFR2 and Erbb3 signaling for growth and survival.", "journal": "Cancer research", "date": "2008", "authors": "Kunii K, Davis L, Gorenstein J, Hatch H, Yashiro M, Di Bacco A, Elbi C, Lutterbach B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18381441", "url": "https://glygen.org/publication/PubMed/18381441" } ] }, { "title": "Myeloproliferative disorder FOP-FGFR1 fusion kinase recruits phosphoinositide-3 kinase and phospholipase Cgamma at the centrosome.", "journal": "Molecular cancer", "date": "2008", "authors": "Lelievre H, Chevrier V, Tassin AM, Birnbaum D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18412956", "url": "https://glygen.org/publication/PubMed/18412956" } ] }, { "title": "Structure of the Hsp110:Hsc70 nucleotide exchange machine.", "journal": "Molecular cell", "date": "2008", "authors": "Schuermann JP, Jiang J, Cuellar J, Llorca O, Wang L, Gimenez LE, Jin S, Taylor AB, Demeler B, Morano KA, Hart PJ, Valpuesta JM, Lafer EM, Sousa R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "18550409", "url": "https://glygen.org/publication/PubMed/18550409" } ] }, { "title": "Drug-sensitive FGFR2 mutations in endometrial carcinoma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dutt A, Salvesen HB, Chen TH, Ramos AH, Onofrio RC, Hatton C, Nicoletti R, Winckler W, Grewal R, Hanna M, Wyhs N, Ziaugra L, Richter DJ, Trovik J, Engelsen IB, Stefansson IM, Fennell T, Cibulskis K, Zody MC, Akslen LA, Gabriel S, Wong KK, Sellers WR, Meyerson M, Greulich H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18552176", "url": "https://glygen.org/publication/PubMed/18552176" } ] }, { "title": "Inhibition of activated fibroblast growth factor receptor 2 in endometrial cancer cells induces cell death despite PTEN abrogation.", "journal": "Cancer research", "date": "2008", "authors": "Byron SA, Gartside MG, Wellens CL, Mallon MA, Keenan JB, Powell MA, Goodfellow PJ, Pollock PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "18757403", "url": "https://glygen.org/publication/PubMed/18757403" } ] }, { "title": "Aberrant receptor internalization and enhanced FRS2-dependent signaling contribute to the transforming activity of the fibroblast growth factor receptor 2 IIIb C3 isoform.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Cha JY, Maddileti S, Mitin N, Harden TK, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "19103595", "url": "https://glygen.org/publication/PubMed/19103595" } ] }, { "title": "Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.", "journal": "Molecular cancer research : MCR", "date": "2009", "authors": "Gartside MG, Chen H, Ibrahimi OA, Byron SA, Curtis AV, Wellens CL, Bengston A, Yudt LM, Eliseenkova AV, Ma J, Curtin JA, Hyder P, Harper UL, Riedesel E, Mann GJ, Trent JM, Bastian BC, Meltzer PS, Mohammadi M, Pollock PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "19147536", "url": "https://glygen.org/publication/PubMed/19147536" } ] }, { "title": "Stress-inducible regulation of heat shock factor 1 by the deacetylase SIRT1.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Westerheide SD, Anckar J, Stevens SM Jr, Sistonen L, Morimoto RI", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "19229036", "url": "https://glygen.org/publication/PubMed/19229036" } ] }, { "title": "Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice.", "journal": "The Journal of clinical investigation", "date": "2009", "authors": "Qing J, Du X, Chen Y, Chan P, Li H, Wu P, Marsters S, Stawicki S, Tien J, Totpal K, Ross S, Stinson S, Dornan D, French D, Wang QR, Stephan JP, Wu Y, Wiesmann C, Ashkenazi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "19381019", "url": "https://glygen.org/publication/PubMed/19381019" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O95429-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95429-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner.", "journal": "Oncogene", "date": "2009", "authors": "di Martino E, L'Hote CG, Kennedy W, Tomlinson DC, Knowles MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "19749790", "url": "https://glygen.org/publication/PubMed/19749790" } ] }, { "title": "Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models.", "journal": "The Journal of clinical investigation", "date": "2009", "authors": "Taylor JG 6th, Cheuk AT, Tsang PS, Chung JY, Song YK, Desai K, Yu Y, Chen QR, Shah K, Youngblood V, Fang J, Kim SY, Yeung C, Helman LJ, Mendoza A, Ngo V, Staudt LM, Wei JS, Khanna C, Catchpoole D, Qualman SJ, Hewitt SM, Merlino G, Chanock SJ, Khan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "19809159", "url": "https://glygen.org/publication/PubMed/19809159" } ] }, { "title": "Substrate specificity of SIRT1-catalyzed lysine Nepsilon-deacetylation reaction probed with the side chain modified Nepsilon-acetyl-lysine analogs.", "journal": "Bioorganic chemistry", "date": "2010", "authors": "Jamonnak N, Hirsch BM, Pang Y, Zheng W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "19914676", "url": "https://glygen.org/publication/PubMed/19914676" } ] }, { "title": "The FGFR4 Y367C mutant is a dominant oncogene in MDA-MB453 breast cancer cells.", "journal": "Oncogene", "date": "2010", "authors": "Roidl A, Foo P, Wong W, Mann C, Bechtold S, Berger HJ, Streit S, Ruhe JE, Hart S, Ullrich A, Ho HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "19946327", "url": "https://glygen.org/publication/PubMed/19946327" } ] }, { "title": "Fibroblast growth factor signalling: from development to cancer.", "journal": "Nature reviews. Cancer", "date": "2010", "authors": "Turner N, Grose R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "20094046", "url": "https://glygen.org/publication/PubMed/20094046" } ] }, { "title": "FGFR1 amplification drives endocrine therapy resistance and is a therapeutic target in breast cancer.", "journal": "Cancer research", "date": "2010", "authors": "Turner N, Pearson A, Sharpe R, Lambros M, Geyer F, Lopez-Garcia MA, Natrajan R, Marchio C, Iorns E, Mackay A, Gillett C, Grigoriadis A, Tutt A, Reis-Filho JS, Ashworth A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "20179196", "url": "https://glygen.org/publication/PubMed/20179196" } ] }, { "title": "GP369, an FGFR2-IIIb-specific antibody, exhibits potent antitumor activity against human cancers driven by activated FGFR2 signaling.", "journal": "Cancer research", "date": "2010", "authors": "Bai A, Meetze K, Vo NY, Kollipara S, Mazsa EK, Winston WM, Weiler S, Poling LL, Chen T, Ismail NS, Jiang J, Lerner L, Gyuris J, Weng Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "20709759", "url": "https://glygen.org/publication/PubMed/20709759" } ] }, { "title": "Anti-TNF-alpha agents in the treatment of immune-mediated inflammatory diseases: mechanisms of action and pitfalls.", "journal": "Immunotherapy", "date": "2010", "authors": "Silva LC, Ortigosa LC, Benard G", "evidence": [ { "database": "Reactome", "id": "R-HSA-75893", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75893" } ], "reference": [ { "type": "PubMed", "id": "21091114", "url": "https://glygen.org/publication/PubMed/21091114" } ] }, { "title": "Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer.", "journal": "Science translational medicine", "date": "2010", "authors": "Weiss J, Sos ML, Seidel D, Peifer M, Zander T, Heuckmann JM, Ullrich RT, Menon R, Maier S, Soltermann A, Moch H, Wagener P, Fischer F, Heynck S, Koker M, Schottle J, Leenders F, Gabler F, Dabow I, Querings S, Heukamp LC, Balke-Want H, Ansen S, Rauh D, Baessmann I, Altmuller J, Wainer Z, Conron M, Wright G, Russell P, Solomon B, Brambilla E, Brambilla C, Lorimier P, Sollberg S, Brustugun OT, Engel-Riedel W, Ludwig C, Petersen I, Sanger J, Clement J, Groen H, Timens W, Sietsma H, Thunnissen E, Smit E, Heideman D, Cappuzzo F, Ligorio C, Damiani S, Hallek M, Beroukhim R, Pao W, Klebl B, Baumann M, Buettner R, Ernestus K, Stoelben E, Wolf J, Nurnberg P, Perner S, Thomas RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "21160078", "url": "https://glygen.org/publication/PubMed/21160078" } ] }, { "title": "Inhibitor-sensitive FGFR1 amplification in human non-small cell lung cancer.", "journal": "PloS one", "date": "2011", "authors": "Dutt A, Ramos AH, Hammerman PS, Mermel C, Cho J, Sharifnia T, Chande A, Tanaka KE, Stransky N, Greulich H, Gray NS, Meyerson M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "21666749", "url": "https://glygen.org/publication/PubMed/21666749" } ] }, { "title": "Fibroblast growth factors and their receptors in cancer.", "journal": "The Biochemical journal", "date": "2011", "authors": "Wesche J, Haglund K, Haugsten EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "21711248", "url": "https://glygen.org/publication/PubMed/21711248" } ] }, { "title": "Regulation of SIRT1 activity by genotoxic stress.", "journal": "Genes & development", "date": "2012", "authors": "Yuan J, Luo K, Liu T, Lou Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "22465953", "url": "https://glygen.org/publication/PubMed/22465953" } ] }, { "title": "Unlike for human monocytes after LPS activation, release of TNF-alpha by THP-1 cells is produced by a TACE catalytically different from constitutive TACE.", "journal": "PloS one", "date": "2012", "authors": "Moreira-Tabaka H, Peluso J, Vonesch JL, Hentsch D, Kessler P, Reimund JM, Dumont S, Muller CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-75893", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75893" } ], "reference": [ { "type": "PubMed", "id": "22479555", "url": "https://glygen.org/publication/PubMed/22479555" } ] }, { "title": "Hikeshi, a nuclear import carrier for Hsp70s, protects cells from heat shock-induced nuclear damage.", "journal": "Cell", "date": "2012", "authors": "Kose S, Furuta M, Imamoto N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "22541429", "url": "https://glygen.org/publication/PubMed/22541429" } ] }, { "title": "DBC1 phosphorylation by ATM/ATR inhibits SIRT1 deacetylase in response to DNA damage.", "journal": "Journal of molecular cell biology", "date": "2012", "authors": "Zannini L, Buscemi G, Kim JE, Fontanella E, Delia D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "22735644", "url": "https://glygen.org/publication/PubMed/22735644" } ] }, { "title": "Transforming fusions of FGFR and TACC genes in human glioblastoma.", "journal": "Science (New York, N.Y.)", "date": "2012", "authors": "Singh D, Chan JM, Zoppoli P, Niola F, Sullivan R, Castano A, Liu EM, Reichel J, Porrati P, Pellegatta S, Qiu K, Gao Z, Ceccarelli M, Riccardi R, Brat DJ, Guha A, Aldape K, Golfinos JG, Zagzag D, Mikkelsen T, Finocchiaro G, Lasorella A, Rabadan R, Iavarone A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853336", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853336" } ], "reference": [ { "type": "PubMed", "id": "22837387", "url": "https://glygen.org/publication/PubMed/22837387" } ] }, { "title": "RPA assists HSF1 access to nucleosomal DNA by recruiting histone chaperone FACT.", "journal": "Molecular cell", "date": "2012", "authors": "Fujimoto M, Takaki E, Takii R, Tan K, Prakasam R, Hayashida N, Iemura S, Natsume T, Nakai A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "22940245", "url": "https://glygen.org/publication/PubMed/22940245" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" }, { "database": "iPTMnet", "id": "O95429", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95429" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95429", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95429" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "The SIRT1 modulators AROS and DBC1 regulate HSF1 activity and the heat shock response.", "journal": "PloS one", "date": "2013", "authors": "Raynes R, Pombier KM, Nguyen K, Brunquell J, Mendez JE, Westerheide SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "23349863", "url": "https://glygen.org/publication/PubMed/23349863" } ] }, { "title": "Identification of targetable FGFR gene fusions in diverse cancers.", "journal": "Cancer discovery", "date": "2013", "authors": "Wu YM, Su F, Kalyana-Sundaram S, Khazanov N, Ateeq B, Cao X, Lonigro RJ, Vats P, Wang R, Lin SF, Cheng AJ, Kunju LP, Siddiqui J, Tomlins SA, Wyngaard P, Sadis S, Roychowdhury S, Hussain MH, Feng FY, Zalupski MM, Talpaz M, Pienta KJ, Rhodes DR, Robinson DR, Chinnaiyan AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853336", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853336" } ], "reference": [ { "type": "PubMed", "id": "23558953", "url": "https://glygen.org/publication/PubMed/23558953" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy.", "journal": "Nature", "date": "2013", "authors": "Hasson SA, Kane LA, Yamano K, Huang CH, Sliter DA, Buehler E, Wang C, Heman-Ackah SM, Hessa T, Guha R, Martin SE, Youle RJ", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "reference": [ { "type": "PubMed", "id": "24270810", "url": "https://glygen.org/publication/PubMed/24270810" } ] }, { "title": "Emergence of FGFR family gene fusions as therapeutic targets in a wide spectrum of solid tumours.", "journal": "The Journal of pathology", "date": "2014", "authors": "Parker BC, Engels M, Annala M, Zhang W", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853336", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853336" } ], "reference": [ { "type": "PubMed", "id": "24588013", "url": "https://glygen.org/publication/PubMed/24588013" } ] }, { "title": "FGFR1/3 tyrosine kinase fusions define a unique molecular subtype of non-small cell lung cancer.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2014", "authors": "Wang R, Wang L, Li Y, Hu H, Shen L, Shen X, Pan Y, Ye T, Zhang Y, Luo X, Zhang Y, Pan B, Li B, Li H, Zhang J, Pao W, Ji H, Sun Y, Chen H", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853336", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853336" } ], "reference": [ { "type": "PubMed", "id": "24850843", "url": "https://glygen.org/publication/PubMed/24850843" } ] }, { "title": "Human tumor necrosis factor-alpha receptor. Purification by immunoaffinity chromatography and initial characterization.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Stauber GB, Aiyer RA, Aggarwal BB", "evidence": [ { "database": "Reactome", "id": "R-HSA-75893", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75893" } ], "reference": [ { "type": "PubMed", "id": "2848815", "url": "https://glygen.org/publication/PubMed/2848815" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95429", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95429" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O95429", "url": "https://oglcnac.org/atlas/detail/O95429" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95429", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95429" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Bcl2-associated athanogene 4 promotes the invasion and metastasis of gastric cancer cells by activating the PI3K/AKT/NF-kappaB/ZEB1 axis.", "journal": "Cancer letters", "date": "2021", "authors": "Jiang L, Chen Y, Min G, Wang J, Chen W, Wang H, Wang X, Yao N", "evidence": [ { "database": "RefSeq", "id": "NP_001191807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807" } ], "reference": [ { "type": "PubMed", "id": "34419501", "url": "https://glygen.org/publication/PubMed/34419501" } ] }, { "title": "SODD Promotes Lung Cancer Tumorigenesis by Activating the PDK1/AKT and RAF/MEK/ERK Signaling.", "journal": "Genes", "date": "2023-03-30", "authors": "Bao Fan, An Su, Yang Yang, Xu Tian-Rui", "evidence": [ { "database": "RefSeq", "id": "NP_001191807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807" } ], "reference": [ { "type": "PubMed", "id": "37107587", "url": "https://glygen.org/publication/PubMed/37107587" } ] }, { "title": "Hip, a novel cochaperone involved in the eukaryotic Hsc70/Hsp40 reaction cycle.", "journal": "Cell", "date": "1995", "authors": "Hohfeld J, Minami Y, Hartl FU", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "7585962", "url": "https://glygen.org/publication/PubMed/7585962" } ] }, { "title": "The TNF receptor 1-associated protein TRADD signals cell death and NF-kappa B activation.", "journal": "Cell", "date": "1995", "authors": "Hsu H, Xiong J, Goeddel DV", "evidence": [ { "database": "Reactome", "id": "R-HSA-75893", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75893" } ], "reference": [ { "type": "PubMed", "id": "7758105", "url": "https://glygen.org/publication/PubMed/7758105" } ] }, { "title": "Human pro-tumor necrosis factor is a homotrimer.", "journal": "Biochemistry", "date": "1996", "authors": "Tang P, Hung M-C, Klostergaard J", "evidence": [ { "database": "Reactome", "id": "R-HSA-75893", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75893" } ], "reference": [ { "type": "PubMed", "id": "8679576", "url": "https://glygen.org/publication/PubMed/8679576" } ] }, { "title": "Molecular cloning of human p48, a transient component of progesterone receptor complexes and an Hsp70-binding protein.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1996", "authors": "Prapapanich V, Chen S, Nair SC, Rimerman RA, Smith DF", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "8721986", "url": "https://glygen.org/publication/PubMed/8721986" } ] }, { "title": "Repression of human heat shock factor 1 activity at control temperature by phosphorylation.", "journal": "Genes & development", "date": "1996", "authors": "Knauf U, Newton EM, Kyriakis J, Kingston RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "8946918", "url": "https://glygen.org/publication/PubMed/8946918" } ] }, { "title": "BAG-1 modulates the chaperone activity of Hsp70/Hsc70.", "journal": "The EMBO journal", "date": "1997", "authors": "Takayama S, Bimston DN, Matsuzawa S, Freeman BC, Aime-Sempe C, Xie Z, Morimoto RI, Reed JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "9305631", "url": "https://glygen.org/publication/PubMed/9305631" } ] }, { "title": "Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Raffioni S, Zhu YZ, Bradshaw RA, Thompson LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655302", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302" } ], "reference": [ { "type": "PubMed", "id": "9857065", "url": "https://glygen.org/publication/PubMed/9857065" } ] }, { "title": "An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Takayama S, Xie Z, Reed JC", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" }, { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "9873016", "url": "https://glygen.org/publication/PubMed/9873016" } ] }, { "title": "Prevention of constitutive TNF receptor 1 signaling by silencer of death domains.", "journal": "Science", "date": "1999", "authors": "Jiang Y, Woronicz JD, Liu W, Goeddel DV", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "reference": [ { "type": "PubMed", "id": "9915703", "url": "https://glygen.org/publication/PubMed/9915703" } ] }, { "title": "The cellular inhibitor of the PKR protein kinase, P58(IPK), is an influenza virus-activated co-chaperone that modulates heat shock protein 70 activity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Melville MW, Tan SL, Wambach M, Song J, Morimoto RI, Katze MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "9920933", "url": "https://glygen.org/publication/PubMed/9920933" } ] } ], "pathway": [ { "id": "hsa:9530", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9530", "resource": "KEGG Pathway" }, { "id": "R-HSA-3371453", "name": "Regulation of HSF1-mediated heat shock response", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453", "resource": "Reactome", "description": "Regulation of HSF1-mediated heat shock response" }, { "id": "R-HSA-5655302", "name": "Signaling by FGFR1 in disease", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302", "resource": "Reactome", "description": "Signaling by FGFR1 in disease" }, { "id": "R-HSA-75893", "name": "TNF signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75893", "resource": "Reactome", "description": "TNF signaling" }, { "id": "R-HSA-8853336", "name": "Signaling by plasma membrane FGFR1 fusions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853336", "resource": "Reactome", "description": "Signaling by plasma membrane FGFR1 fusions" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6AP78-1", "protein_name": "BAG cochaperone 4", "gene_name": "Bag4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSALRRSGYGPSDGPSYGRYYGPGGGDVPVHVPPPLYHPLRPEPPQPPVSWRGRGGAPAETTWPGEGAGGDGYYPSGGAWAEPSRAGGGHQVSLQVFSGAPVGKSWAEGILALQPIIFSSLITFFQSLNSYANGAYGPPYPPGPATASAASYSGAYYVPGYAQGTYSTDIPSTYRSPGNSPTPVSRWMYPQQDCPTEAPPLRGQVPGYPASQNPAMTLPHYPYGDGNRTVPQSGATGRPQDDAWASSAYGMGARYPWPSAAPSAPSGNLYMTESASPWPGNSSPQPPPSPPPQQPKDSSYSYSQSGQGMNRHSFPCSVRQYESPGAVNNDESDLLDSQVQYSAEPQLYGNTSSEHPSNQVPSNNLPEECFSSDEGTPPSIKKIIHVLEKVQYLEQEVEEFVGKKTDKAYWLLEEMLTKELLELDSVETGGQDSVRQARKEAVCKIQAILEKLEKKGL", "length": 457 }, "evidence": [ { "id": "45928376", "url": "http://www.informatics.jax.org/homology/45928376", "database": "MGI" }, { "id": "O95429", "url": "https://omabrowser.org/oma/group/O95429/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8CI61-1", "protein_name": "BAG family molecular chaperone regulator 4", "gene_name": "Bag4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSALRRSGYGPSDGPSYGRYYGPGGGDVPVHVPPPLYPPLRPEPPQPPVSWRGRGGAPAETTWPGEGAGGDGYYPSGGAWAEASRAGGGHQEQPPYPGYNSNYWNSVRPRAPYPGSYSVRPELQGQSLNSYANGAYGPPYPPGPGASTASYSGAYYVPGYTQSNYSTEVPNTYRSPGNSPTPMSRWMYSQQDCPTEAPPLRGQVPGYPASQNPGMTLPHYPYGDGNRAVPQSGGTGRPQDDAWASSAYGMGARYPWPSAAPSAPSAGSLYMTESASPWPGNSSPQPPPSPPPQQPKDPSYSYNPSGQGLSRHSFPCSVHQYESPGAVNNDNSDLLDSQVQYSAEPQLYGNASSEHPSNQVPSNNLPEECFSSDEGTPPSIKKIIHVLEKVQFLEQEVEEFVGKKTDKAYWLLEEMLTKELLELDSVETGGQDSVRQARKEAVCKIQAILEKLEKKGL", "length": 457 }, "evidence": [ { "id": "45928376", "url": "http://www.informatics.jax.org/homology/45928376", "database": "MGI" }, { "id": "O95429", "url": "https://omabrowser.org/oma/group/O95429/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "adenyl-nucleotide exchange factor activity", "id": "GO:0000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000774", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 15, "go_terms": [ { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "ruffle assembly", "id": "GO:0097178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097178", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "positive regulation of fibroblast migration", "id": "GO:0010763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010763", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "negative regulation of mRNA modification", "id": "GO:0090367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090367", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" }, { "name": "negative regulation of protein targeting to mitochondrion", "id": "GO:1903215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903215", "evidence": [ { "database": "UniProtKB", "id": "O95429", "url": "https://www.uniprot.org/uniprot/O95429" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 104, "end_pos": 106, "annotation": "n_glycosylation_sequon" }, { "start_pos": 226, "end_pos": 228, "annotation": "n_glycosylation_sequon" }, { "start_pos": 350, "end_pos": 352, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 303 ], "snv_sites": [ 274, 330, 362 ], "glycation_sites": [], "phosphorylation_sites": [ 7, 179, 181 ], "sequon_annotation_sites": [ { "start_pos": 104, "end_pos": 106 }, { "start_pos": 226, "end_pos": 228 }, { "start_pos": 350, "end_pos": 352 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 83 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }