{ "uniprot_canonical_ac": "O75190-1", "uniprot_ac": "O75190", "uniprot_id": "DNJB6_HUMAN", "mass": { "chemical_mass": 36087.0, "monoisotopic_mass": 36087.0 }, "refseq": { "ac": "NP_005485", "name": "dnaJ homolog subfamily B member 6 isoform b", "summary": "This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005485" }, "gene_names": [ { "name": "DNAJB6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75190", "id": "O75190" }, { "name": "DJ4; DnaJ; HHDJ1; HSJ-2; HSJ2; LGMD1D; LGMD1E; LGMDD1; MRJ; MSJ-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005485", "id": "NP_005485" }, { "name": "DNAJB6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005485", "id": "NP_005485" }, { "name": "HSJ2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75190", "id": "O75190" }, { "name": "MRJ", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75190", "id": "O75190" }, { "name": "MSJ1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75190", "id": "O75190" } ], "protein_names": [ { "name": "DnaJ homolog subfamily B member 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75190" }, { "name": "HHDJ1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75190" }, { "name": "HSJ-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75190" }, { "name": "Heat shock protein J2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75190" }, { "name": "MRJ", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75190" }, { "name": "MSJ-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75190" }, { "name": "dnaJ homolog subfamily B member 6 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005485", "id": "NP_005485" }, { "name": "heat shock protein J2; dnaJ homolog subfamily B member 6; DnaJ-like 2 protein; DnaJ (Hsp40) homolog, subfamily B, member 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005485", "id": "NP_005485" } ], "function": [ { "annotation": "Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co-chaperone of HSP70 (PubMed:10954706, PubMed:28233300). Plays an indispensable role in the organization of KRT8/KRT18 filaments (PubMed:10954706). Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin (PubMed:11896048, PubMed:22366786). Suppresses aggregation and toxicity of polyglutamine-containing, aggregation-prone proteins (PubMed:20159555, PubMed:22366786). Also reduces cellular toxicity and caspase-3 activity (PubMed:11896048).", "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190#function" }, { "database": "PubMed", "id": "28233300", "url": "https://glygen.org/publication/PubMed/28233300" }, { "database": "PubMed", "id": "22366786", "url": "https://glygen.org/publication/PubMed/22366786" }, { "database": "PubMed", "id": "20159555", "url": "https://glygen.org/publication/PubMed/20159555" }, { "database": "PubMed", "id": "10954706", "url": "https://glygen.org/publication/PubMed/10954706" }, { "database": "PubMed", "id": "11896048", "url": "https://glygen.org/publication/PubMed/11896048" } ] }, { "annotation": "Isoform B but not isoform A inhibits huntingtin aggregation.", "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190#function" }, { "database": "PubMed", "id": "22366786", "url": "https://glygen.org/publication/PubMed/22366786" }, { "database": "PubMed", "id": "20159555", "url": "https://glygen.org/publication/PubMed/20159555" } ] }, { "annotation": "MUC1 promotes lymph node metastasis in esophageal squamous cell carcinoma by downregulating DNAJB6 expression.", "evidence": [ { "database": "RefSeq", "id": "NP_005485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005485" }, { "database": "PubMed", "id": "37584547", "url": "https://glygen.org/publication/PubMed/37584547" } ] }, { "annotation": "MiR-632 Induces DNAJB6 Inhibition Stimulating Endothelial-to-Mesenchymal Transition and Fibrosis in Marfan Syndrome Aortopathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005485" }, { "database": "PubMed", "id": "37894814", "url": "https://glygen.org/publication/PubMed/37894814" } ] }, { "annotation": "The C-terminal domain of the antiamyloid chaperone DNAJB6 binds to amyloid-beta peptide fibrils and inhibits secondary nucleation.", "evidence": [ { "database": "RefSeq", "id": "NP_005485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005485" }, { "database": "PubMed", "id": "37797698", "url": "https://glygen.org/publication/PubMed/37797698" } ] }, { "annotation": "The HSP40 family chaperone isoform DNAJB6b prevents neuronal cells from tau aggregation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005485" }, { "database": "PubMed", "id": "38110916", "url": "https://glygen.org/publication/PubMed/38110916" } ] }, { "annotation": "This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005485" } ] } ], "disease": [ { "disease_id": "DOID:0110273", "recommended_name": { "id": "DOID:0110273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110273", "name": "autosomal dominant limb-girdle muscular dystrophy", "description": "A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance." }, "synonyms": [ { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)", "description": "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "DNAJB6 autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "LGMD1D", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "LGMD1D (DNAJB6)", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy, limb-girdle, autosomal dominant 1", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "LGMD1E", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "LGMD1E (Bushby and Beckmann, 2003)", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "autosomal dominant limb-girdle muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "autosomal dominant limb-girdle muscular dystrophy type 1E", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "limb-girdle muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy limb-girdle type 1D", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy limb-girdle type 1E", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy, limb-girdle, type 1D", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy, limb-girdle, type 1D, formerly", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy, limb-girdle, type 1E", "description": "" }, { "id": "MIM:603511", "resource": "MIM", "url": "https://www.omim.org/entry/603511", "name": "Muscular dystrophy, limb-girdle, autosomal dominant 1", "description": "Muscular dystrophy, limb-girdle, autosomal dominant 1" } ], "evidence": [ { "id": "603511", "database": "MIM", "url": "https://www.omim.org/entry/603511" } ] }, { "disease_id": "DOID:0110305", "recommended_name": { "id": "DOID:0110305", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110305", "name": "autosomal dominant limb-girdle muscular dystrophy type 1", "description": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36." }, "synonyms": [ { "id": "DOID:0110305", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110305", "name": "autosomal dominant limb-girdle muscular dystrophy type 1E", "description": "" }, { "id": "DOID:0110305", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110305", "name": "LGMD1D", "description": "" }, { "id": "DOID:0110305", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110305", "name": "muscular dystrophy limb-girdle type 1D", "description": "" }, { "id": "DOID:0110305", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110305", "name": "muscular dystrophy limb-girdle type 1E", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)", "description": "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "DNAJB6 autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "LGMD1D", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "LGMD1D (DNAJB6)", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy, limb-girdle, autosomal dominant 1", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "LGMD1E", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "LGMD1E (Bushby and Beckmann, 2003)", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "autosomal dominant limb-girdle muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "autosomal dominant limb-girdle muscular dystrophy type 1E", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "limb-girdle muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy limb-girdle type 1D", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy limb-girdle type 1E", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy, limb-girdle, type 1D", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy, limb-girdle, type 1D, formerly", "description": "" }, { "id": "MONDO:0021018", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021018", "name": "muscular dystrophy, limb-girdle, type 1E", "description": "" }, { "id": "MIM:603511", "resource": "MIM", "url": "https://www.omim.org/entry/603511", "name": "Muscular dystrophy, limb-girdle, autosomal dominant 1", "description": "Muscular dystrophy, limb-girdle, autosomal dominant 1" } ], "evidence": [ { "id": "603511", "database": "MIM", "url": "https://www.omim.org/entry/603511" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "68.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "69.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "71.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75190", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75190" } ], "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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75190", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75190" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75190", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75190" } ], "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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75190", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75190" } ], "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": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75190", "url": 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" } ], "common_name": "Human" } ], "gene": [ { "name": "DNAJB6", "url": "https://www.uniprot.org/uniprot/O75190", "locus": { "chromosome": "7", "start_pos": 157417439, "end_pos": 157335381, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105993", "url": "https://www.ensembl.org/id/ENSG00000105993" } ] } } ], "crossref": [ { "id": "ENSG00000105993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105993", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd06257", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06257", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL4295674", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4295674", "database": 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"InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036869", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036869", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043183", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043183", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10049", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10049", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603511", "url": "http://www.omim.org/entry/603511", "database": "MIM", "categories": [ "Other" ] }, { "id": "611332", "url": "http://www.omim.org/entry/611332", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75190", "url": "https://www.nextprot.org/entry/NX_O75190", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "TRGHTDN", "url": "https://omabrowser.org/oma/group/TRGHTDN/", "database": "OMA", "categories": [ "Protein 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"https://www.rcsb.org/structure/6U3S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7JSQ", "url": "https://www.rcsb.org/structure/7JSQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7QBY", "url": "https://www.rcsb.org/structure/7QBY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00226", "url": "http://pfam.xfam.org/family/PF00226", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75190", "url": "https://pharos.nih.gov/targets/O75190", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75190", "url": "http://purl.obolibrary.org/obo/PR_O75190", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005485", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0J9YX62", "url": "https://www.uniprot.org/uniprot/A0A0J9YX62", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YX62-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YX62-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J2C4", "url": "https://www.uniprot.org/uniprot/C9J2C4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J2C4-1", "url": "https://www.uniprot.org/uniprot/C9J2C4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J2P2", "url": "https://www.uniprot.org/uniprot/C9J2P2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J2P2-1", "url": "https://www.uniprot.org/uniprot/C9J2P2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JB42", "url": "https://www.uniprot.org/uniprot/C9JB42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JB42-1", "url": "https://www.uniprot.org/uniprot/C9JB42-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JDR7", "url": "https://www.uniprot.org/uniprot/C9JDR7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JDR7-1", "url": "https://www.uniprot.org/uniprot/C9JDR7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JDX6", "url": "https://www.uniprot.org/uniprot/C9JDX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JDX6-1", "url": "https://www.uniprot.org/uniprot/C9JDX6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JN01", "url": "https://www.uniprot.org/uniprot/C9JN01", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JN01-1", "url": "https://www.uniprot.org/uniprot/C9JN01-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PH18", "url": "https://www.uniprot.org/uniprot/E9PH18", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PH18-1", "url": "https://www.uniprot.org/uniprot/E9PH18-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCZ4", "url": "https://www.uniprot.org/uniprot/F8WCZ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCZ4-1", "url": "https://www.uniprot.org/uniprot/F8WCZ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75190-1", "url": "https://www.uniprot.org/uniprot/O75190-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75190-2", "url": "https://www.uniprot.org/uniprot/O75190-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75190-3", "url": "https://www.uniprot.org/uniprot/O75190-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75190-4", "url": "https://www.uniprot.org/uniprot/O75190-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGSFFSAFSGFPSFGSGFSSFDTGFTSFGSLGHGGLTSFSSTSFGGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEVEEDGQLKSLTINGVADDDALAEERMRRGQNALPAQPAGLRPPKPPRPASLLRHAPHCLSEEEGEQDRPRAPGPWDPLASAAGLKEGGKRKKQKQREESKKKKSTKGNH", "length": 326, "header": "sp|O75190-1|DNJB6_HUMAN Isoform 1 of DnaJ homolog subfamily B member 6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=2 CANONICAL=O75190-1" }, "isoforms": [ { "isoform_ac": "A0A0J9YX62-1", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGSFFSAFSGFPSFGSGFSSFDTGFTSFGSLGHGGLTSFSSTSFGGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEVEEDGQLKSLTINGVADDDALAEERMRRGQNALPAQPAGLRPPKPPRPASLLRHAPHCLSEEEGEQDRPRAPGPWDPLASAAGVQREAAVEQAQSETSLGARGQRGHKPRLGCCVLT", "length": 334, "header": "tr|A0A0J9YX62-1|A0A0J9YX62_HUMAN Computationally mapped isoform of DnaJ heat shock protein family (Hsp40) member B6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=1 CANONICAL=O75190-1" }, "locus": { "chromosome": "7", "start_pos": 157410105, "end_pos": 157358573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000459889.5", "url": "https://www.ensembl.org/id/ENST00000459889.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000488263.1", "url": "https://www.ensembl.org/id/ENSP00000488263.1" } ] } }, { "isoform_ac": "C9J2C4-1", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGSFFSAFSGFPSFGSGFSSFDTGFTSFGSLGHGGLTSFSSTSFGGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEVEEDGQLKSLT", "length": 228, "header": "tr|C9J2C4-1|C9J2C4_HUMAN Computationally mapped isoform of DnaJ heat shock protein family (Hsp40) member B6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=1 CANONICAL=O75190-1" }, "locus": { "chromosome": "7", "start_pos": 157385604, "end_pos": 157358573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417758.5", "url": "https://www.ensembl.org/id/ENST00000417758.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000400665.1", "url": "https://www.ensembl.org/id/ENSP00000400665.1" } ] } }, { "isoform_ac": "C9J2P2-1", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGSFFSAFS", "length": 145, "header": "tr|C9J2P2-1|C9J2P2_HUMAN Computationally mapped isoform of DnaJ heat shock protein family (Hsp40) member B6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=8 CANONICAL=O75190-1" }, "locus": { "chromosome": "7", "start_pos": 157382334, "end_pos": 157358573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441561.5", "url": "https://www.ensembl.org/id/ENST00000441561.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000410643.1", "url": "https://www.ensembl.org/id/ENSP00000410643.1" } ] } }, { "isoform_ac": "C9JB42-1", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYD", "length": 66, "header": "tr|C9JB42-1|C9JB42_HUMAN Computationally mapped isoform of DnaJ heat shock protein family (Hsp40) member B6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=1 CANONICAL=O75190-1" }, "locus": { "chromosome": "7", "start_pos": 157366524, "end_pos": 157358573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437030.5", "url": "https://www.ensembl.org/id/ENST00000437030.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391690.1", "url": "https://www.ensembl.org/id/ENSP00000391690.1" } ] } }, { "isoform_ac": "C9JDR7-1", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDD", "length": 98, "header": "tr|C9JDR7-1|DNJB6_HUMAN Computationally mapped isoform of DnaJ homolog subfamily B member 6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=1 CANONICAL=O75190-1" }, "locus": { "chromosome": "7", "start_pos": 157367431, "end_pos": 157358573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453383.5", "url": "https://www.ensembl.org/id/ENST00000453383.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000396240.1", "url": "https://www.ensembl.org/id/ENSP00000396240.1" } ] } }, { "isoform_ac": "C9JDX6-1", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGN", "length": 125, "header": "tr|C9JDX6-1|C9JDX6_HUMAN Computationally mapped isoform of DnaJ heat shock protein family (Hsp40) member B6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=1 CANONICAL=O75190-1" }, "locus": { "chromosome": "7", "start_pos": 157382274, "end_pos": 157358573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412557.5", "url": "https://www.ensembl.org/id/ENST00000412557.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000403407.1", "url": "https://www.ensembl.org/id/ENSP00000403407.1" } ] } }, { "isoform_ac": "C9JN01-1", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERK", "length": 45, "header": "tr|C9JN01-1|C9JN01_HUMAN Computationally mapped isoform of DnaJ heat shock protein family (Hsp40) member B6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=1 CANONICAL=O75190-1" }, "locus": { "chromosome": "7", "start_pos": 157363230, "end_pos": 157358573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439402.1", "url": "https://www.ensembl.org/id/ENST00000439402.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000389599.1", "url": "https://www.ensembl.org/id/ENSP00000389599.1" } ] } }, { "isoform_ac": "E9PH18-1", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFGVADDDALAEERMRRGQNALPAQPAGLRPPKPPRPASLLRHAPHCLSEEEGEQDRPRAPGPWDPLASAAGLKEGGKRKKQKQREESKKKKSTKGNH", "length": 211, "header": "tr|E9PH18-1|E9PH18_HUMAN Computationally mapped isoform of DnaJ heat shock protein family (Hsp40) member B6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=1 CANONICAL=O75190-1" }, "locus": { "chromosome": "7", "start_pos": 157416095, "end_pos": 157358573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443280.5", "url": "https://www.ensembl.org/id/ENST00000443280.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000396267.1", "url": "https://www.ensembl.org/id/ENSP00000396267.1" } ] } }, { "isoform_ac": "F8WCZ4-1", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFGQGSVWVEVLCSDR", "length": 129, "header": "tr|F8WCZ4-1|DNJB6_HUMAN Computationally mapped isoform of DnaJ homolog subfamily B member 6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=1 CANONICAL=O75190-1" }, "locus": { "chromosome": "7", "start_pos": 157369400, "end_pos": 157358573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441291.5", "url": "https://www.ensembl.org/id/ENST00000441291.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415201.1", "url": "https://www.ensembl.org/id/ENSP00000415201.1" } ] } }, { "isoform_ac": "O75190-1", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGSFFSAFSGFPSFGSGFSSFDTGFTSFGSLGHGGLTSFSSTSFGGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEVEEDGQLKSLTINGVADDDALAEERMRRGQNALPAQPAGLRPPKPPRPASLLRHAPHCLSEEEGEQDRPRAPGPWDPLASAAGLKEGGKRKKQKQREESKKKKSTKGNH", "length": 326, "header": "sp|O75190-1|DNJB6_HUMAN Isoform 1 of DnaJ homolog subfamily B member 6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=2 CANONICAL=O75190-1" }, "locus": { "chromosome": "7", "start_pos": 157416095, "end_pos": 157358573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262177.9", "url": "https://www.ensembl.org/id/ENST00000262177.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000262177.4", "url": "https://www.ensembl.org/id/ENSP00000262177.4" } ] } }, { "isoform_ac": "O75190-2", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGSFFSAFSGFPSFGSGFSSFDTGFTSFGSLGHGGLTSFSSTSFGGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEVEEDGQLKSLTINGKEQLLRLDNK", "length": 241, "header": "sp|O75190-2|DNJB6_HUMAN Isoform 2 of DnaJ homolog subfamily B member 6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=2 CANONICAL=O75190-1" }, "locus": { "chromosome": "7", "start_pos": 157385643, "end_pos": 157358573, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429029.6", "url": "https://www.ensembl.org/id/ENST00000429029.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000397556.2", "url": "https://www.ensembl.org/id/ENSP00000397556.2" } ] } }, { "isoform_ac": "O75190-3", "url": "", "sequence": { "sequence": "MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGSFFSAFSGFPSFGSGFSSFDTGFTSFGSLGHGGLTSFSSTSFGGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEVEEDGQLKSLTINGVADDDALAEERMRRGQNALPAQPAGLRPPKPPRPASLLRHAPHCLSEEEGEQDRPRAPGPWDPLASAAGVQREAAVEQAQSETSLGARGQRGHK", "length": 325, "header": "sp|O75190-3|DNJB6_HUMAN Isoform 3 of DnaJ homolog subfamily B member 6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=2 CANONICAL=O75190-1" }, "locus": {} }, { "isoform_ac": "O75190-4", "url": "", "sequence": { "sequence": "MPHPRILKRPKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGSFFSAFSGFPSFGSGFSSFDTGFTSFGSLGHGGLTSFSSTSFGGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEVEEDGQLKSLTINGVADDDALAEERMRRGQNALPAQPAGLRPPKPPRPASLLRHAPHCLSEEEGEQDRPRAPGPWDPLASAAGLKEGGKRKKQKQREESKKKKSTKGNH", "length": 277, "header": "sp|O75190-4|DNJB6_HUMAN Isoform 4 of DnaJ homolog subfamily B member 6 OS=Homo sapiens OX=9606 GN=DNAJB6 PE=1 SV=2 CANONICAL=O75190-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 277, "end_pos": 277, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O75190", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75190" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O75190", "url": "http://phospho.elm.eu.org/byAccession/O75190.html" } ], "site_lbl": "Ser277" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Cloning, tissue expression, and chromosomal assignment of human MRJ gene for a member of the DNAJ protein family.", "journal": "J. Hum. Genet.", "date": "1999", "authors": "Seki N, Hattori A, Hayashi A, Kozuma S, Miyajima N, Saito T", "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" } ], "reference": [ { "type": "PubMed", "id": "10319584", "url": "https://glygen.org/publication/PubMed/10319584" } ] }, { "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": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" }, { "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": "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": "Characterization of a brain-enriched chaperone, MRJ, that inhibits Huntingtin aggregation and toxicity independently.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Chuang JZ, Zhou H, Zhu M, Li SH, Li XJ, Sung CH", "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" } ], "reference": [ { "type": "PubMed", "id": "11896048", "url": "https://glygen.org/publication/PubMed/11896048" } ] }, { "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": "Mol. Biol. Rep.", "date": "2003", "authors": "Hanai R, Mashima K", "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" }, { "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": "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": "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": "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": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" }, { "database": "iPTMnet", "id": "O75190", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75190" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O75190-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75190-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "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": "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": "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": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O75190-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75190-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O75190-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75190-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "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": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75190-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75190-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation.", "journal": "Molecular cell", "date": "2010", "authors": "Hageman J, Rujano MA, van Waarde MA, Kakkar V, Dirks RP, Govorukhina N, Oosterveld-Hut HM, Lubsen NH, Kampinga HH", "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" } ], "reference": [ { "type": "PubMed", "id": "20159555", "url": "https://glygen.org/publication/PubMed/20159555" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" }, { "database": "iPTMnet", "id": "O75190", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75190" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.", "journal": "Annals of neurology", "date": "2012", "authors": "Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH", "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" } ], "reference": [ { "type": "PubMed", "id": "22334415", "url": "https://glygen.org/publication/PubMed/22334415" } ] }, { "title": "Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.", "journal": "Nature genetics", "date": "2012", "authors": "Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttila S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B", "evidence": [ { "database": "UniProtKB", "id": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" } ], "reference": [ { "type": "PubMed", "id": "22366786", "url": "https://glygen.org/publication/PubMed/22366786" } ] }, { "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": "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": "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": "O75190", "url": "https://www.uniprot.org/uniprot/O75190" }, { "database": "iPTMnet", "id": "O75190", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75190" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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" } ], 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