{ "uniprot_canonical_ac": "O95985-1", "uniprot_ac": "O95985", "uniprot_id": "TOP3B_HUMAN", "mass": { "chemical_mass": 96662.0, "monoisotopic_mass": 96662.0 }, "refseq": { "ac": "NP_001269041", "name": "DNA topoisomerase 3-beta-1 isoform 1", "summary": "This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" }, "gene_names": [ { "name": "TOP3B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95985", "id": "O95985" }, { "name": "TOP3B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041", "id": "NP_001269041" }, { "name": "TOP3B1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95985", "id": "O95985" }, { "name": "TOP3B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041", "id": "NP_001269041" } ], "protein_names": [ { "name": "DNA topoisomerase 3-beta-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95985" }, { "name": "5.6.2.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95985" }, { "name": "DNA topoisomerase 3-beta-1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041", "id": "NP_001269041" }, { "name": "DNA topoisomerase III beta-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95985" }, { "name": "topoisomerase III beta; DNA topoisomerase 3-beta-1; topoisomerase (DNA) III beta; DNA topoisomerase III beta-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041", "id": "NP_001269041" } ], "function": [ { "annotation": "A dual-activity topoisomerase complex regulates mRNA translation and turnover.", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" }, { "database": "PubMed", "id": "35748872", "url": "https://glygen.org/publication/PubMed/35748872" } ] }, { "annotation": "DNA and RNA Cleavage Complexes and Repair Pathway for TOP3B RNA- and DNA-Protein Crosslinks.", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" }, { "database": "PubMed", "id": "33378676", "url": "https://glygen.org/publication/PubMed/33378676" } ] }, { "annotation": "Introduces a single-strand break via transesterification at a target site in duplex DNA. Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand.", "evidence": [ { "database": "UniProtKB", "id": "F2Z2A5", "url": "https://www.uniprot.org/uniprot/F2Z2A5#function" }, { "database": "UniProtKB", "id": "RU362092", "url": "https://www.uniprot.org/uniprot/RU362092#function" }, { "database": "UniProtKB", "id": "C9JKE2", "url": "https://www.uniprot.org/uniprot/C9JKE2#function" }, { "database": "UniProtKB", "id": "C9J9X4", "url": "https://www.uniprot.org/uniprot/C9J9X4#function" }, { "database": "UniProtKB", "id": "C9JEI7", "url": "https://www.uniprot.org/uniprot/C9JEI7#function" }, { "database": "UniProtKB", "id": "C9JEQ1", "url": "https://www.uniprot.org/uniprot/C9JEQ1#function" }, { "database": "UniProtKB", "id": "H0Y6W0", "url": "https://www.uniprot.org/uniprot/H0Y6W0#function" }, { "database": "UniProtKB", "id": "C9JT00", "url": "https://www.uniprot.org/uniprot/C9JT00#function" }, { "database": "UniProtKB", "id": "H7C4B0", "url": "https://www.uniprot.org/uniprot/H7C4B0#function" } ] }, { "annotation": "Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand than undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Possesses negatively supercoiled DNA relaxing activity.", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985#function" } ] }, { "annotation": "Structural and biochemical basis for DNA and RNA catalysis by human Topoisomerase 3beta. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" }, { "database": "PubMed", "id": "35945419", "url": "https://glygen.org/publication/PubMed/35945419" } ] }, { "annotation": "The positive regulatory region including the 5'GGAACC3' core element is essential for efficient expression of the DNA topoisomerase III beta gene", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" }, { "database": "PubMed", "id": "15358519", "url": "https://glygen.org/publication/PubMed/15358519" } ] }, { "annotation": "This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" } ] }, { "annotation": "Topoisomerase III-beta is required for efficient replication of positive-sense RNA viruses.", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" }, { "database": "PubMed", "id": "32735900", "url": "https://glygen.org/publication/PubMed/32735900" } ] }, { "annotation": "Topoisomerase IIIbeta expression can be a useful marker in assessing the prognosis of patients with breast cancer and is an independent predictor of survival. Erratum:[Hum Pathol. 2012 Apr;43(4):618]", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" }, { "database": "PubMed", "id": "20950730", "url": "https://glygen.org/publication/PubMed/20950730" } ] }, { "annotation": "Two isoforms of human DNA topoisomerase IIIbeta were expressed in HeLa cells. Isoform 1 was localized to the nucleus and associated with chromosomes during metaphase and anaphase. Isoform 2 was found in the cytoplasm.", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" }, { "database": "PubMed", "id": "11549288", "url": "https://glygen.org/publication/PubMed/11549288" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95985", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95985" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 767, "end_pos": 767, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "22", "chr_pos": "21957404", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S767", "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": "" } ] }, { "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" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100038", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100038" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "58.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100038", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100038" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100038", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100038" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100038", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100038" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100038", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100038" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "66.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100038", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100038" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100038", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100038" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "72.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100038", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100038" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100038", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100038" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100038", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100038" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95985", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95985" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95985", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95985" } ], "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": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95985", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95985" } ], "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", 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"https://www.uniprot.org/uniprot/C9JKE2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JT00", "url": "https://www.uniprot.org/uniprot/C9JT00", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JT00-1", "url": "https://www.uniprot.org/uniprot/C9JT00-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JTQ7", "url": "https://www.uniprot.org/uniprot/C9JTQ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JTQ7-1", "url": "https://www.uniprot.org/uniprot/C9JTQ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F2Z2A5", "url": "https://www.uniprot.org/uniprot/F2Z2A5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F2Z2A5-1", "url": "https://www.uniprot.org/uniprot/F2Z2A5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y6W0", "url": "https://www.uniprot.org/uniprot/H0Y6W0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y6W0-1", "url": "https://www.uniprot.org/uniprot/H0Y6W0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C4B0", "url": "https://www.uniprot.org/uniprot/H7C4B0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C4B0-1", "url": "https://www.uniprot.org/uniprot/H7C4B0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95985-1", "url": "https://www.uniprot.org/uniprot/O95985-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95985-2", "url": "https://www.uniprot.org/uniprot/O95985-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95985-3", "url": "https://www.uniprot.org/uniprot/O95985-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYIVLWLDCDKEGENICFEVLDAVLPVMNKAHGGEKTVFRARFSSITDTDICNAMACLGEPDHNEALSVDARQELDLRIGCAFTRFQTKYFQGKYGDLDSSLISFGPCQTPTLGFCVERHDKIQSFKPETYWVLQAKVNTDKDRSLLLDWDRVRVFDREIAQMFLNMTKLEKEAQVEATSRKEKAKQRPLALNTVEMLRVASSSLGMGPQHAMQTAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANHPYWADTVKRLLAEGINRPRKGHDAGDHPPITPMKSATEAELGGDAWRLYEYITRHFIATVSHDCKYLQSTISFRIGPELFTCSGKTVLSPGFTEVMPWQSVPLEESLPTCQRGDAFPVGEVKMLEKQTNPPDYLTEAELITLMEKHGIGTDASIPVHINNICQRNYVTVESGRRLKPTNLGIVLVHGYYKIDAELVLPTIRSAVEKQLNLIAQGKADYRQVLGHTLDVFKRKFHYFVDSIAGMDELMEVSFSPLAATGKPLSRCGKCHRFMKYIQAKPSRLHCSHCDETYTLPQNGTIKLYKELRCPLDDFELVLWSSGSRGKSYPLCPYCYNHPPFRDMKKGMGCNECTHPSCQHSLSMLGIGQCVECESGVLVLDPTSGPKWKVACNKCNVVAHCFENAHRVRVSADTCSVCEAALLDVDFNKAKSPLPGDETQHMGCVFCDPVFQELVELKHAASCHPMHRGGPGRRQGRGRGRARRPPGKPNPRRPKDKMSALAAYFV", "length": 862, "header": "sp|O95985-1|TOP3B_HUMAN Isoform 1 of DNA topoisomerase 3-beta-1 OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "isoforms": [ { "isoform_ac": "C9J9X4-1", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHV", "length": 61, "header": "tr|C9J9X4-1|C9J9X4_HUMAN Computationally mapped isoform of DNA topoisomerase OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21975709, "end_pos": 21974376, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456075.5", "url": "https://www.ensembl.org/id/ENST00000456075.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391857.1", "url": "https://www.ensembl.org/id/ENSP00000391857.1" } ] } }, { "isoform_ac": "C9JEI7-1", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYIVLWLDCDKEGENICFEVLDAVLPVMNKAHGGEKTVFRARFSSITDTDICNAMACLGEPDHNEALSVDARQELDLRIGCAFTRFQTKYFQGKYGDLDSSLISFGPCQTPTLGFCVERHDKIQSFKPETYWVLQAK", "length": 246, "header": "tr|C9JEI7-1|C9JEI7_HUMAN Computationally mapped isoform of DNA topoisomerase OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21975709, "end_pos": 21968619, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424393.5", "url": "https://www.ensembl.org/id/ENST00000424393.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390977.1", "url": "https://www.ensembl.org/id/ENSP00000390977.1" } ] } }, { "isoform_ac": "C9JEQ1-1", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGH", "length": 60, "header": "tr|C9JEQ1-1|C9JEQ1_HUMAN Computationally mapped isoform of DNA topoisomerase OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21975709, "end_pos": 21974379, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449704.5", "url": "https://www.ensembl.org/id/ENST00000449704.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404600.1", "url": "https://www.ensembl.org/id/ENSP00000404600.1" } ] } }, { "isoform_ac": "C9JF56-1", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKIL", "length": 21, "header": "tr|C9JF56-1|C9JF56_HUMAN Computationally mapped isoform of DNA topoisomerase III beta OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21975709, "end_pos": 21975647, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434517.1", "url": "https://www.ensembl.org/id/ENST00000434517.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000390824.1", "url": "https://www.ensembl.org/id/ENSP00000390824.1" } ] } }, { "isoform_ac": "C9JHR0-1", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFA", "length": 46, "header": "tr|C9JHR0-1|C9JHR0_HUMAN Computationally mapped isoform of DNA topoisomerase III beta OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=8 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21975709, "end_pos": 21974421, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442653.1", "url": "https://www.ensembl.org/id/ENST00000442653.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000390209.1", "url": "https://www.ensembl.org/id/ENSP00000390209.1" } ] } }, { "isoform_ac": "C9JKE2-1", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYIVLWLDCDKE", "length": 121, "header": "tr|C9JKE2-1|C9JKE2_HUMAN Computationally mapped isoform of DNA topoisomerase OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21975709, "end_pos": 21971898, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430142.5", "url": "https://www.ensembl.org/id/ENST00000430142.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000414538.1", "url": "https://www.ensembl.org/id/ENSP00000414538.1" } ] } }, { "isoform_ac": "C9JT00-1", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYIVLWLDCDKEG", "length": 122, "header": "tr|C9JT00-1|C9JT00_HUMAN Computationally mapped isoform of DNA topoisomerase OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21975709, "end_pos": 21971895, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437929.5", "url": "https://www.ensembl.org/id/ENST00000437929.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402622.1", "url": "https://www.ensembl.org/id/ENSP00000402622.1" } ] } }, { "isoform_ac": "C9JTQ7-1", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYT", "length": 42, "header": "tr|C9JTQ7-1|C9JTQ7_HUMAN Computationally mapped isoform of DNA topoisomerase III beta OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21975709, "end_pos": 21974433, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437103.1", "url": "https://www.ensembl.org/id/ENST00000437103.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000387554.1", "url": "https://www.ensembl.org/id/ENSP00000387554.1" } ] } }, { "isoform_ac": "F2Z2A5-1", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYIVLWLDCDKEGENICFEK", "length": 129, "header": "tr|F2Z2A5-1|TOP3B_HUMAN Computationally mapped isoform of DNA topoisomerase 3-beta-1 OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21975709, "end_pos": 21971059, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457179.5", "url": "https://www.ensembl.org/id/ENST00000457179.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000397221.1", "url": "https://www.ensembl.org/id/ENSP00000397221.1" } ] } }, { "isoform_ac": "H0Y6W0-1", "url": "", "sequence": { "sequence": "XLDSSLISFGPCQTPTLGFCVERHDKIQSFKPETYWVLQAKVNTDKDRSLLLDWDRVRVFDREIAQMFLNMTKLEKEAQVEATSRKEKAKQRPLALNTVEMLRVASSSLGMGPQHAMQTAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANHPYWADTVKRLLAEGINRPRKGHDAGDHPPITPMKSATEAELGGDAWRLYEYITRHFIATVSHDCKYLQSTISFRIGPELFTCSGKTVLSPGFTEVMPWQSVPLEESLPTCQRGDAFPVGEVKMLEKQTNPPDYLTEAELITLMEKHGIGTDASIPVHINNICQRNYVTVESGRRLKPTNLGIVLVHGYYKIDAELVLPTIRSAVEKQLNLIAQGKADYRQVLGHTLDVFKRKFHYFVDSIAGMDELMEVSFSPLAATGKPLSRCGKCHRFMKYIQAKPSRLHCSHCDETYTLPQNGTIKLYKELRCPLDDFELVLWSSGSRGKSYPLCPYCYNHPPFRDMKKGECSHSLLSTGSCSLFSVPTPALHQAGL", "length": 525, "header": "tr|H0Y6W0-1|H0Y6W0_HUMAN Computationally mapped isoform of DNA topoisomerase OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21968740, "end_pos": 21958408, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457270.5", "url": "https://www.ensembl.org/id/ENST00000457270.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408282.1", "url": "https://www.ensembl.org/id/ENSP00000408282.1" } ] } }, { "isoform_ac": "H7C4B0-1", "url": "", "sequence": { "sequence": "IAQMFLNMTKLEKEAQVEATSRKEKAKQRPLALNTVEMLRVASSSLGMGPQHAMQTAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANHPYWADTVKRLLAEGINRPRKGHDAGDHPPITPMKSATEAELGFAVCPAQRLCKQELAARARVLGAPHGQSPQLAPN", "length": 168, "header": "tr|H7C4B0-1|H7C4B0_HUMAN Computationally mapped isoform of DNA topoisomerase OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21967650, "end_pos": 21962917, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436282.1", "url": "https://www.ensembl.org/id/ENST00000436282.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000416451.1", "url": "https://www.ensembl.org/id/ENSP00000416451.1" } ] } }, { "isoform_ac": "O95985-1", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYIVLWLDCDKEGENICFEVLDAVLPVMNKAHGGEKTVFRARFSSITDTDICNAMACLGEPDHNEALSVDARQELDLRIGCAFTRFQTKYFQGKYGDLDSSLISFGPCQTPTLGFCVERHDKIQSFKPETYWVLQAKVNTDKDRSLLLDWDRVRVFDREIAQMFLNMTKLEKEAQVEATSRKEKAKQRPLALNTVEMLRVASSSLGMGPQHAMQTAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANHPYWADTVKRLLAEGINRPRKGHDAGDHPPITPMKSATEAELGGDAWRLYEYITRHFIATVSHDCKYLQSTISFRIGPELFTCSGKTVLSPGFTEVMPWQSVPLEESLPTCQRGDAFPVGEVKMLEKQTNPPDYLTEAELITLMEKHGIGTDASIPVHINNICQRNYVTVESGRRLKPTNLGIVLVHGYYKIDAELVLPTIRSAVEKQLNLIAQGKADYRQVLGHTLDVFKRKFHYFVDSIAGMDELMEVSFSPLAATGKPLSRCGKCHRFMKYIQAKPSRLHCSHCDETYTLPQNGTIKLYKELRCPLDDFELVLWSSGSRGKSYPLCPYCYNHPPFRDMKKGMGCNECTHPSCQHSLSMLGIGQCVECESGVLVLDPTSGPKWKVACNKCNVVAHCFENAHRVRVSADTCSVCEAALLDVDFNKAKSPLPGDETQHMGCVFCDPVFQELVELKHAASCHPMHRGGPGRRQGRGRGRARRPPGKPNPRRPKDKMSALAAYFV", "length": 862, "header": "sp|O95985-1|TOP3B_HUMAN Isoform 1 of DNA topoisomerase 3-beta-1 OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": { "chromosome": "22", "start_pos": 21975709, "end_pos": 21957117, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357179.10", "url": "https://www.ensembl.org/id/ENST00000357179.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000349705.5", "url": "https://www.ensembl.org/id/ENSP00000349705.5" } ] } }, { "isoform_ac": "O95985-2", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYIVLWLDCDKEGENICFEVLDAVLPVMNKAHGGEKTVFRARFSSITDTDICNAMACLGEPDHNEALSVDARQELDLRIGCAFTRFQTKYFQGKYGDLDSSLISFGPCQTPTLGFCVERHDKIQSFKPETYWVLQAKVNTDKDRSLLLDWDRVRVFDREIAQMFLNMTKLEKEAQVEATSRKEKAKQRPLALNTVEMLRVASSSLGMGPQHAMQTAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANHPYWADTVKRLLAEGINRPRKGHDAGDHPPITPMKSATEAELGGDAWRLYEYITRHFIATVSHDCKYLQSTISFRIGPELFTCSGKTVLSPGFTEVMPWQSVPLEESLPTCQRGDAFPVGEVKMLEKQTNPPDYLTEAELITLMEKHGIGTDASIPVHINNICQRNYVTVESGRRLKPTNLGIVLVHGYYKIDAELVLPTIRSAVEKQLNLIAQGKADYRQVLGHTLDVFKRKFHYFVDSIAGMDELMEVSFSPLAATGKPLSRCGKCHRFMKYIQAKPSRLHCSHCDETYTLPQNGTIKLYKELRCPLDDFELVLWSSGSRGKSYPLCPYCYNHPPFRDMKKGECSHSLLSTGSCSLFSVPTPALHQAGL", "length": 730, "header": "sp|O95985-2|TOP3B_HUMAN Isoform 2 of DNA topoisomerase 3-beta-1 OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": {} }, { "isoform_ac": "O95985-3", "url": "", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYIVLWLDCDKEGENICFEVLDAVLPVMNKAHGGEKTVFRARFSSITDTDICNAMACLGEPDHNEALSVDARQELDLRIGCAFTRFQTKYFQGKYGDLDSSLISFGPCQTPTLGFCVERHDKIQSFKPETYWVLQAKVNTDKDRSLLLDWDRVRVFDREIAQMFLNMTKLEKEAQVEATSRKEKAKQRPLALNTVEMLRVASSSLGMGPQHAMQTAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANHPYWADTVKRLLAEGINRPRKGHDAGDHPPITPMKSATEAELGGDAWRLYEYITRHFIATVSHDCKYLQSTISFRIGPELFTCSGKTVLSPGFTEVMPWQSVPLEESLPTCQRGDAFPVGEVKMLEKQTNPPDYLTEAELITLMEKHGIGTDASIPVHINNICQRNYVTVESGRRLKPTNLGIVLVHGYYKIDAELVLPTIRSAVEKQLNLIAQGKADYRQVLGHTLDVFKRKFHYFVDSIAGMDELMEVSFSPLAATGKPLSRCGKCHRFMKYIQAKPSRLHCSHCDETYTLPQNGTIKLYKELRCPLDDFELVLWSSGSRGKSYPLCPYCYNHPPFRDMKKVVPCV", "length": 707, "header": "sp|O95985-3|TOP3B_HUMAN Isoform 3 of DNA topoisomerase 3-beta-1 OS=Homo sapiens OX=9606 GN=TOP3B PE=1 SV=1 CANONICAL=O95985-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95985", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95985" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "M phase-specific association of human topoisomerase IIIbeta with chromosomes.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Kobayashi M, Hanai R", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" } ], "reference": [ { "type": "PubMed", "id": "11549288", "url": "https://glygen.org/publication/PubMed/11549288" } ] }, { "title": "Identification of the functional elements in the promoter region of human DNA topoisomerase IIIbeta gene.", "journal": "Biochimica et biophysica acta", "date": "2004", "authors": "Cho YH, Park JY, Han SY, Chung IK", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" } ], "reference": [ { "type": "PubMed", "id": "15358519", "url": "https://glygen.org/publication/PubMed/15358519" } ] }, { "title": "Significance of topoisomerase IIIbeta expression in breast ductal carcinomas: strong associations with disease-specific survival and metastasis.", "journal": "Human pathology", "date": "2010", "authors": "Oliveira-Costa JP, Zanetti J, Oliveira LR, Soares FA, Ramalho LZ, Silva Ramalho F, Garcia SB, Ribeiro-Silva A", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" } ], "reference": [ { "type": "PubMed", "id": "20950730", "url": "https://glygen.org/publication/PubMed/20950730" } ] }, { "title": "Topoisomerase III-beta is required for efficient replication of positive-sense RNA viruses.", "journal": "Antiviral research", "date": "2020", "authors": "Prasanth KR, Hirano M, Fagg WS, McAnarney ET, Shan C, Xie X, Hage A, Pietzsch CA, Bukreyev A, Rajsbaum R, Shi PY, Bedford MT, Bradrick SS, Menachery V, Garcia-Blanco MA", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" } ], "reference": [ { "type": "PubMed", "id": "32735900", "url": "https://glygen.org/publication/PubMed/32735900" } ] }, { "title": "DNA and RNA Cleavage Complexes and Repair Pathway for TOP3B RNA- and DNA-Protein Crosslinks.", "journal": "Cell reports", "date": "2020", "authors": "Saha S, Sun Y, Huang SN, Baechler SA, Pongor LS, Agama K, Jo U, Zhang H, Tse-Dinh YC, Pommier Y", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" } ], "reference": [ { "type": "PubMed", "id": "33378676", "url": "https://glygen.org/publication/PubMed/33378676" } ] }, { "title": "A dual-activity topoisomerase complex regulates mRNA translation and turnover.", "journal": "Nucleic acids research", "date": "2022-07-08", "authors": "Su Shuaikun, Xue Yutong, Sharov Alexei, Zhang Yongqing, Lee Seung Kyu, Martindale Jennifer L, Li Wen, Ku Wai Lim, Zhao Keji, De Supriyo, Shen Weiping, Sen Payel, Gorospe Myriam, Xu Dongyi, Wang Weidong", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" } ], "reference": [ { "type": "PubMed", "id": "35748872", "url": "https://glygen.org/publication/PubMed/35748872" } ] }, { "title": "Structural and biochemical basis for DNA and RNA catalysis by human Topoisomerase 3beta.", "journal": "Nature communications", "date": "2022", "authors": "Yang X, Saha S, Yang W, Neuman KC, Pommier Y", "evidence": [ { "database": "RefSeq", "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041" } ], "reference": [ { "type": "PubMed", "id": "35945419", "url": "https://glygen.org/publication/PubMed/35945419" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95985", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95985" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "One-megabase sequence analysis of the human immunoglobulin lambda gene locus.", "journal": "Genome Res.", "date": "1997", "authors": "Kawasaki K, Minoshima S, Nakato E, Shibuya K, Shintani A, Schmeits J L, Wang J, Shimizu N", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985" } ], "reference": [ { "type": "PubMed", "id": "9074928", "url": "https://glygen.org/publication/PubMed/9074928" } ] }, { "title": "A new human topoisomerase III that interacts with SGS1 protein.", "journal": "Nucleic Acids Res.", "date": "1999", "authors": "Ng SW, Liu Y, Hasselblatt KT, Mok SC, Berkowitz RS", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985" } ], "reference": [ { "type": "PubMed", "id": "9927731", "url": "https://glygen.org/publication/PubMed/9927731" } ] } ], "pathway": [ { "id": "hsa:8940", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8940", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A9Z2-1", "protein_name": "DNA topoisomerase", "gene_name": "Top3b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGNMSSHKGLNGACSVHKYTGTFAGQPVHFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYVVLWLDCDKEGENICFEVLDAVLPVLNNAHNGEKTVFRARFSSITDTDICNAMTRLTEPDHNEALSVDARQELDLRIGCAFTRFQTKYFQGKYGDLDSSLISFGPCQTPTLGFCVERHDKIQSFKPETYWVLQAKVHTDKEESLLLDWDRVRVFDREIAQMFLNMTKLEKEAWVEATSKKEKAKQRPLALNTVEMLRVASSALGMGPQHAMQVAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANHPYWADSVKQLLAEGINRPRKGHDAGDHPPITPMKSATEAELGGDAWRLYEYITRHFIATVSHDCKYLQSTISFRIGPEHFTCMGKTVISPGFTEIMPWQSVPLEESLPTCQKGDTFTVGEVKMLEKQTSPPDYLTEAELITLMEKHGIGTDASIPVHINNICQRNYVTVENGRRLKPTNLGIVLVHGYHKIDAELVLPTIRSAVEKQLNLIAQGKANYHQVLGHTLDIFKRKFHYFVDSIAGMDELMEVSFSPLAATGKPLSRCGKCHRFMKYIQAKPSRLHCSHCDETYTLPQNGTIKLYKELRCPLDDFELVLWSSGSRGKSYPLCPYCYNHPPFRDMKKGMGCNECTHPTCQHSLSMLGIGQCVECENGVLVLDPTSGPKWKVACNTCSVVAHCFDNAHRVRVSADTCNTCEAALLDVDFNKAKSPLPGNETQHTGCIFCDTVFQELVELKHAASCHPMHRGGPGRRQGRGRARGRRPPGKPNPRRPKDKMSALAAYFV", "length": 862 }, "evidence": [ { "id": "45927006", "url": "http://www.informatics.jax.org/homology/45927006", "database": "MGI" }, { "id": "O95985", "url": "https://omabrowser.org/oma/group/O95985/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O96651-1", "protein_name": "DNA topoisomerase 3-beta", "gene_name": "Top3beta", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MKSVLMVAEKPSLAASLAGILSNGRCTAKRGTGNGCSTHEWTGNFRNEGSVHFRMTSVCGHVMSLDFNKKYNCWDKVDPIQLFGCATEKKETNPKQNMRKFLAHEARGCDYLVLWLDCDKEGENICFEVMDAVKHVINNVYSDQVTYRAHFSAITEKDIKKAMETLGHPNENEAKSVDARQELDLRIGCAFTRFQTKFFQDRYGDLDSSLISYGPCQTPTLGFCVKRHDDIQTFKPESFWHLQLLAGQPEVTLEWARGRVFKKDIAIMLLNRVKEHKKATVESVASKEAYKSKPQALNTVELMRICSSGLGIGPFQAMQIAERLYTQGYISYPRTETNQYPTNFDLPAVLHVLKPSADFGEEARSILGDIQTPRKGKDAGDHPPITPMKLGNRSDFDRDTWRVYEFICRHFMGTVSRDLKYRVTTAKLSVGMETFSCTASVLIDAGFTKVMTWSAFGKDEPQPPFVQGTQVAINDVRLIESQTGPPDYLTESELITLMEEHGIGTDASIPVHINNICQRNYVHIENGRKLMPTTLGIVLVHGYQKIDPELVLPTMRTEVERMLTLIAQGSANFQDVLRHAIKIFKLKFMYFVKNIDSMDALFEVSFSPLAESGKAHSRCGKCRRYMKYIQTKPARLHCSHCDETYALPIGNVKVYREFKCPLDDFDLLAFSTGVKGRSYPFCPYCYNHPPFSDMPHLGGCNTCTNANCPHSLNTLGISSCVECPTGVLVLDCTLAPTWKLGCNRCDVIINCFKGATKITVEEAKCQECGAQQVNVVYKSDKSKFKDGSEEKSGCIFCSADFSHLVEKHRAVASRPVRSGGGFRGGKAGRGGGGMGGAAFGSGGAVTAGGGPNAGGGVRGSRVAKDKMGQLASYFV", "length": 875 }, "evidence": [ { "id": "O95985", "url": "https://omabrowser.org/oma/group/O95985/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "P13099-1", "protein_name": "DNA topoisomerase 3", "gene_name": "TOP3", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MKVLCVAEKNSIAKAVSQILGGGRSTSRDSGYMYVKNYDFMFSGFPFARNGANCEVTMTSVAGHLTGIDFSHDSHGWGKCAIQELFDAPLNEIMNNNQKKIASNIKREARNADYLMIWTDCDREGEYIGWEIWQEAKRGNRLIQNDQVYRAVFSHLERQHILNAARNPSRLDMKSVHAVGTRIEIDLRAGVTFTRLLTETLRNKLRNQATMTKDGAKHRGGNKNDSQVVSYGTCQFPTLGFVVDRFERIRNFVPEEFWYIQLVVENKDNGGTTTFQWDRGHLFDRLSVLTFYETCIETAGNVAQVVDLKSKPTTKYRPLPLTTVELQKNCARYLRLNAKQSLDAAEKLYQKGFISYPRTETDTFPHAMDLKSLVEKQAQLDQLAAGGRTAWASYAASLLQPENTSNNNKFKFPRSGSHDDKAHPPIHPIVSLGPEANVSPVERRVYEYVARHFLACCSEDAKGQSMTLVLDWAVERFSASGLVVLERNFLDVYPWARWETTKQLPRLEMNALVDIAKAEMKAGTTAPPKPMTESELILLMDTNGIGTDATIAEHIDKIQVRNYVRSEKVGKETYLQPTTLGVSLVHGFEAIGLEDSFAKPFQRREMEQDLKKICEGHASKTDVVKDIVEKYRKYWHKTNACKNTLLQVYDRVKASM", "length": 656 }, "evidence": [ { "id": "O95985", "url": "https://omabrowser.org/oma/group/O95985/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q9Z321-1", "protein_name": "DNA topoisomerase 3-beta-1", "gene_name": "Top3b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKTVLMVAEKPSLAQSIAKILSRGNMSSHKGLNGACSVHKYTGTFAGQPVHFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVEGRGCDYVVLWLDCDKEGENICFEVLDAVLPVMNNAHNGEKTVFRARFSSITDTDICNAMTRLSEPDHNEALSVDARQELDLRIGCAFTRFQTKYFQGKYGDLDSSLISFGPCQTPTLGFCVERHDKIQSFKPETYWVLQAKVHTDKEESLLLDWDRVRVFDWEIAQMFLNMTKLEKEAWVEATSRKEKAKQRPLALNTVEMLRVASSALGMGPQHAMQIAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANHPYWADSVKQLLAEGINRPRKGHDAGDHPPITPMKSATEAELGGDAWRLYEYITRHFIATVSHDCKYLQSTISFRIGPEHFTCMGKTVISPGFTEIMPWQSVPLEESLPTCQKGDTFTVGEVKMLEKQTSPPDYLTEAELITLMEKHGIGTDASIPVHINNICQRNYVTVESGRRLKPTNLGIVLVHGYYKIDAELVLPTIRSAVEKQLNLIAQGKADYHQVLGHTLDIFKRKFHYFVDSIAGMDELMEVSFSPLAATGKPLSRCGKCHRFMKYIQAKPSRLHCSHCDETYTLPQNGTIKLYKELRCPLDDFELVLWSSGSRGKSYPLCPYCYNHPPFRDMKKGMGCNECTHPTCQHSLSMLGIGQCVECENGVLVLDPTSGPKWKVACNTCNVVAHCFENAHRVRVSADTCNTCEAALLDVDFNKAKSPLPGNETQHTGCIFCDPVFQELVELKHAASCHPMHRGGPGRRQGRGRGRGRRPPGKPNPRRPKDKMSALAAYFV", "length": 862 }, "evidence": [ { "id": "45927006", "url": "http://www.informatics.jax.org/homology/45927006", "database": "MGI" }, { "id": "O95985", "url": "https://omabrowser.org/oma/group/O95985/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985" } ], "pmid": "" }, { "name": "DNA topoisomerase type I (single strand cut, ATP-independent) activity", "id": "GO:0003917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003917", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985" } ], "pmid": "" }, { "name": "DNA topoisomerase activity", "id": "GO:0003916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003916", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "DNA topological change", "id": "GO:0006265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006265", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985" } ], "pmid": "" }, { "name": "condensed chromosome", "id": "GO:0000793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000793", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985" } ], "pmid": "" }, { "name": "DNA topoisomerase III-beta-TDRD3 complex", "id": "GO:0140225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140225", "evidence": [ { "database": "UniProtKB", "id": "O95985", "url": "https://www.uniprot.org/uniprot/O95985" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 275, "end_pos": 277, "annotation": "n_glycosylation_sequon" }, { "start_pos": 655, "end_pos": 657, "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": [], "snv_sites": [ 767 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 275, "end_pos": 277 }, { "start_pos": 655, "end_pos": 657 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "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": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "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": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }