{ "uniprot_canonical_ac": "O60264-1", "uniprot_ac": "O60264", "uniprot_id": "SMCA5_HUMAN", "mass": { "chemical_mass": 121905.0, "monoisotopic_mass": 121905.0 }, "refseq": { "ac": "NP_003592", "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5", "summary": "The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003592" }, "gene_names": [ { "name": "SMARCA5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60264", "id": "O60264" }, { "name": "SMARCA5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003592", "id": "NP_003592" }, { "name": "SNF2H", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60264", "id": "O60264" }, { "name": "WCRF135", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60264", "id": "O60264" }, { "name": "hISWI; hSNF2H; ISWI; SNF2H; WCRF135", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003592", "id": "NP_003592" } ], "protein_names": [ { "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60264" }, { "name": "3.6.4.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60264" }, { "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60264" }, { "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003592", "id": "NP_003592" }, { "name": "Sucrose nonfermenting protein 2 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60264" }, { "name": "hSNF2H", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60264" }, { "name": "sucrose nonfermenting-like 5; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5; sucrose nonfermenting protein 2 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003592", "id": "NP_003592" } ], "function": [ { "annotation": "Circular RNA SMARCA5 Promotes a Poor Prognosis and Radiotherapy Resistance for Patients with Hepatocellular Carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_003592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003592" }, { "database": "PubMed", "id": "37625840", "url": "https://glygen.org/publication/PubMed/37625840" } ] }, { "annotation": "Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity (PubMed:12972596, PubMed:28801535). Catalytic subunit of ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair; this may require intact histone H4 tails (PubMed:10880450, PubMed:12434153, PubMed:28801535, PubMed:12198550, PubMed:12972596, PubMed:23911928). Within the ISWI chromatin-remodeling complexes, slides edge- and center-positioned histone octamers away from their original location on the DNA template (PubMed:28801535). Catalytic activity and histone octamer sliding propensity is regulated and determined by components of the ISWI chromatin-remodeling complexes (PubMed:28801535). The BAZ1A/ACF1-, BAZ1B/WSTF-, BAZ2A/TIP5- and BAZ2B-containing ISWI chromatin-remodeling complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the center of a DNA template in an ATP-dependent manner (PubMed:14759371, PubMed:15543136, PubMed:28801535). The CECR2- and RSF1-containing ISWI chromatin-remodeling complexes do not have the ability to slide mononucleosomes to the center of a DNA template (PubMed:28801535). Binds to core histones together with RSF1, and is required for the assembly of regular nucleosome arrays by the RSF-5 ISWI chromatin-remodeling complex (PubMed:12972596). Involved in DNA replication and together with BAZ1A/ACF1 is required for replication of pericentric heterochromatin in S-phase (PubMed:12434153). Probably plays a role in repression of RNA polymerase I dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter (By similarity). Essential component of the WICH-5 ISWI chromatin-remodeling complex (also called the WICH complex), a chromatin-remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure (PubMed:11980720, PubMed:15543136). The WICH-5 ISWI chromatin-remodeling complex regulates the transcription of various genes, has a role in RNA polymerase I transcription (By similarity). Within the B-WICH complex has a role in RNA polymerase III transcription (PubMed:16603771). Mediates the histone H2AX phosphorylation at 'Tyr-142', and is involved in the maintenance of chromatin structures during DNA replication processes (By similarity). Essential component of NoRC-5 ISWI chromatin-remodeling complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264#function" }, { "database": "PubMed", "id": "10880450", "url": "https://glygen.org/publication/PubMed/10880450" }, { "database": "PubMed", "id": "15543136", "url": "https://glygen.org/publication/PubMed/15543136" }, { "database": "PubMed", "id": "12434153", "url": "https://glygen.org/publication/PubMed/12434153" }, { "database": "PubMed", "id": "11980720", "url": "https://glygen.org/publication/PubMed/11980720" }, { "database": "UniProtKB", "id": "Q91ZW3", "url": "https://www.uniprot.org/uniprot/Q91ZW3#function" }, { "database": "PubMed", "id": "12198550", "url": "https://glygen.org/publication/PubMed/12198550" }, { "database": "PubMed", "id": "28801535", "url": "https://glygen.org/publication/PubMed/28801535" }, { "database": "PubMed", "id": "23911928", "url": "https://glygen.org/publication/PubMed/23911928" }, { "database": "PubMed", "id": "14759371", "url": "https://glygen.org/publication/PubMed/14759371" }, { "database": "PubMed", "id": "12972596", "url": "https://glygen.org/publication/PubMed/12972596" }, { "database": "PubMed", "id": "16603771", "url": "https://glygen.org/publication/PubMed/16603771" } ] }, { "annotation": "Human SMARCA5 is continuously required to maintain nucleosome spacing.", "evidence": [ { "database": "RefSeq", "id": "NP_003592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003592" }, { "database": "PubMed", "id": "36630954", "url": "https://glygen.org/publication/PubMed/36630954" } ] }, { "annotation": "Hyperglycemia-Suppressed SMARCA5 Disrupts Transcriptional Homeostasis to Facilitate Endothelial Dysfunction in Diabetes.", "evidence": [ { "database": "RefSeq", "id": "NP_003592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003592" }, { "database": "PubMed", "id": "36872061", "url": "https://glygen.org/publication/PubMed/36872061" } ] }, { "annotation": "The RPA-RNF20-SNF2H cascade promotes proper chromosome segregation and homologous recombination repair.", "evidence": [ { "database": "RefSeq", "id": "NP_003592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003592" }, { "database": "PubMed", "id": "37155876", "url": "https://glygen.org/publication/PubMed/37155876" } ] }, { "annotation": "The miR-100-5p Targets SMARCA5 to Regulate the Apoptosis and Intracellular Survival of BCG in Infected THP-1 Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003592" }, { "database": "PubMed", "id": "36766816", "url": "https://glygen.org/publication/PubMed/36766816" } ] }, { "annotation": "The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003592" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O60264", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60264" } ], "glycoeffect": [], "start_pos": 1040, "end_pos": 1040, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "143553143", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1040", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60264", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60264" } ], "glycoeffect": [], "start_pos": 560, "end_pos": 560, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "143538846", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R560", "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": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60264" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60264" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": 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"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", 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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": "O60264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60264" } ], "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 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60264" } ], "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://glygen.org/publication/PubMed/16565220" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser116" }, { "start_pos": 137, "end_pos": 137, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "phospho.ELM", "id": "O60264", "url": "http://phospho.elm.eu.org/byAccession/O60264.html" }, { "database": "iPTMnet", "id": "O60264", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60264" }, { "database": "PubMed", "id": "14729942", "url": 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"id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "positive regulation of histone deacetylation", "id": "GO:0031065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031065", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "regulation of DNA replication", "id": "GO:0006275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006275", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "regulation of DNA methylation", "id": "GO:0044030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044030", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "positive regulation of histone acetylation", "id": "GO:0035066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035066", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "rDNA heterochromatin formation", "id": "GO:0000183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000183", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase I", "id": "GO:0045943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045943", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "DNA-templated transcription initiation", "id": "GO:0006352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006352", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase I", "id": "GO:0016479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016479", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "positive regulation of histone methylation", "id": "GO:0031062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031062", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" }, { "name": "negative regulation of mitotic chromosome condensation", "id": "GO:1905213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905213", "evidence": [ { "database": "UniProtKB", "id": "O60264", "url": "https://www.uniprot.org/uniprot/O60264" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 30, "end_pos": 32, "annotation": "n_glycosylation_sequon" }, { "start_pos": 549, "end_pos": 551, "annotation": "n_glycosylation_sequon" }, { "start_pos": 702, "end_pos": 704, "annotation": "n_glycosylation_sequon" }, { "start_pos": 946, "end_pos": 948, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-427409", "name": "Nucleolar Remodelling Complex (NoRC) binds intergenic region of rDNA", "equation": "", "summary": "As inferred from mouse cell models, the Nucleolar Remodeling Complex (NoRC) comprises TIP5 (BAZ2A) and the chromatin remodeller SNF2H (SMARCA5). The TAM domain of TIP5 (BAZ2A) binds promoter-associated RNA (pRNA) transcribed from the intergenic spacer region of rDNA (Anosova et al. 2015). Binding is not sequence-specific but depends on the secondary structure of the RNA. The pRNA bound by TIP5 is required to direct the complex to the main promoter of the rRNA gene possibly by triple helix formation between pRNA and the rDNA. The PHD domain of TIP5 binds histone H4 acetylated at lysine-16. Transcription Termination Factor-I (TTF-I) binds to a promoter-proximal terminator (T0 site) in the rDNA and interacts with the TIP5 subunit of NoRC. NoRC also interacts with the SIN3-HDAC complex, HDAC1, HDAC2, DNMT1, and DNMT3B. DNMT3B interacts with a triple helix formed by pRNA and the rDNA. HDAC1, DNMT1, and DNMT3B have been shown to be required for proper DNA methylation of silenced rRNA gene copies, although the catalytic activity of DNMT3B was not required (Majumder et al. 2006).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-205135", "R-HSA-212316", "R-HSA-427339", "R-HSA-427397" ], "output_participant_list": [ "R-HSA-74974" ], "enzyme_list": [ "P26358-1", "Q13547-1", "Q9UBC3-1", "O60264-1", "Q92769-1" ], "evidence": [ { "id": "R-HSA-427409", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427409" } ] }, { "id": "R-HSA-433672", "name": "NoRC:HDAC:DNMT deacetylates histone H4 and methylates histone H3", "equation": "", "summary": "As inferred from mouse cell models, histones in silenced rRNA gene copies are deacetylated by HDAC1 (and possibly HDAC2), which is part of the SIN3-HDAC complex bound to NoRC. The PHD domain of the TIP5 (BAZ2A) component of NoRC binds acetylated lysine-16 of histone H4. The residues of histone H4 that are deacetylatd are lysine-5, lysine-8, and lysine-12.
In the main promoters of silenced rRNA gene copies, histone H3 is methylated on lysine-9 (H3K9) by an unknown histone methyltransferase. H3K9 methylation is still observed when deacetylation is inhibited, therefore histone methylation does not depend on deacetylation. However histone deacetylation is required for DNA methylation. Significantly more dimethylation than trimethylation is observed.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P26358-1", "Q13547-1", "Q9UBC3-1", "O60264-1", "Q92769-1" ], "evidence": [ { "id": "R-HSA-433672", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-433672" } ] }, { "id": "R-HSA-5227490", "name": "NoRC:HDAC:DNMT methylates cytosine of the rRNA genes", "equation": "", "summary": "From research with human cells (Majumder et al. 2006, Espada et al. 2007) and inferences from mouse cell models, cytosine residues in the main promoter of silenced rRNA gene copiess are methylated by DNMT1 and DNMT3B. DNMT3B directly binds a triple helix formed by pRNA and the main promoter of rDNA. The methylated cytosines prevent binding of the UBF transcription factor, thus preventing transcription of silenced rRNA gene copies. Histone deacetylation is required for DNA methylation.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P26358-1", "Q13547-1", "Q9UBC3-1", "O60264-1", "Q92769-1" ], "evidence": [ { "id": "R-HSA-5227490", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5227490" } ] }, { "id": "R-HSA-5250930", "name": "B-WICH recruits histone acetyltransferases", "equation": "", "summary": "Direct interactions between BAZ1B (WSTF) and histone acetyltransferases KAT2B, KAT2A, and EP300 are weak (Vintermist et al. 2011) so the acetyltransferases may interact with other subunits of B\u2011WICH or with proteins not in the B\u2011WICH complex. The ERCC6 (CSB) component of B\u2011WICH and MYOIC interact with KAT2B (PCAF) (Sarshad et al. 2013, Shen et al. 2013). The histone acetyltransferases are believed to acetylate histone H3 at lysine\u20119 in rDNA since this modification is reduced in WSTF and MYOIC knockdown cells (Vintermist et al. 2011, Sarshad et al. 2013). Knockdown of KAT2B causes loss of acetylation on histone H4 and on histone H3 at lysine\u20119 (Shen et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q92830-1", "Q9NR30-1", "Q03468-1", "Q9H9Y6-1", "Q09472-1", "O60264-1", "Q9UIG0-1", "Q92831-1", "O95602-1" ], "evidence": [ { "id": "R-HSA-5250930", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250930" } ] }, { "id": "R-HSA-5250938", "name": "B-WICH:histone acetyltransferase acetylates histone H3 at lysine-9", "equation": "", "summary": "Histone acetyltransferases recruited by the B\u2011WICH complex acetylate histone H3 at lysine\u20119. Knockdown of the BAZ1B (WSTF) and MYOIC components of B\u2011WICH cause a loss of histone acetyltransferases KAT2B (PCAF), KAT2A (GCN5), and EP300 (p300) and a reduction of acetylated histone H3. Knockdown of KAT2B (PCAF) causes a reduction in acetylation of histone H3 at lysine\u20119, leading to reduced rRNA synthesis levels (Sarshad et al. 2013, Shen et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q92830-1", "Q9NR30-1", "Q03468-1", "Q9H9Y6-1", "Q09472-1", "O60264-1", "Q9UIG0-1", "Q92831-1", "O95602-1" ], "evidence": [ { "id": "R-HSA-5250938", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250938" } ] }, { "id": "R-HSA-5250947", "name": "B-WICH complex binds rDNA promoter", "equation": "", "summary": "Active rRNA genes are bound by the B\u2011WICH multiprotein complex (Cavellan et al. 2006, Percipalle et al. 2006). B-WICH binds the promoter region of the gene (Percipalle et al. 2006, Sarshad et al. 2013). The MYO1C component of the B-WICH complex binds chromatin and interacts with SMARCA5. Binding causes 200 bp of chromatin at the promoter to adopt a more open configuration and contributes to epigenetic modifications compatible with transcription activation (Vintermist et al. 2011, Sarshad et al. 2013). At the rRNA gene promoter the SMARCA5-MYOIC interaction is excluded when MYOIC interacts with actin in complex with RNA polymerase I (Sarshad et al. 2013). Binding of MYOIC to chromatin is regulated by GSK3beta-dependent phosphorylation that targets the MYOIC chromatin binding domain (Sarshad et al. 2014). Binding of MYOIC to the RNA polymerase I is partly mediated via phosphorylated TIF1A (Philimonenko et al. 2004). Binding of B\u2011WICH to rRNA genes requires MYOIC to be recruited to active rRNA genes and this mechanism appears to be a requirement to activate and maintain transcription by RNA polymerase I (Percipalle et al. 2006, Sarshad et al. 2013, Sarshad et al. 2014, reviewed in Sarshad and Percipalle 2014).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-ALL-73682", "R-HSA-417140", "R-HSA-417153", "R-HSA-5250643", "R-HSA-5250650", "R-HSA-5250652", "R-HSA-71968", "R-HSA-73859" ], "output_participant_list": [ "R-HSA-3321990" ], "enzyme_list": [ "Q9NR30-1", "Q03468-1", "Q9H9Y6-1", "P60709-1", "P49841-1", "O60264-1", "Q9UIG0-1", "O95602-1" ], "evidence": [ { "id": "R-HSA-5250947", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250947" } ] }, { "id": "R-HSA-5683930", "name": "WICH phosphorylates H2AFX on Y142", "equation": "", "summary": "Under basal conditions, histone H2AFX (H2AX) is phosphorylated on tyrosine residue Y142 by the WICH complex composed of BAZ1B (WSTF) and SMARCA5 (SNF2H) (Xiao et al. 2009).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60264-1", "Q9UIG0-1" ], "evidence": [ { "id": "R-HSA-5683930", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683930" } ] }, { "id": "R-HSA-606287", "name": "RSF complex binds the centromere", "equation": "", "summary": "The RSF complex binds the centromere in mid-G1 phase after deposition of new CENPA-containing nucleosomes has occurred. The RSF complex is required for stable incorporation of the previously deposited CENPA-containing nucleosomes.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-606288" ], "output_participant_list": [ "R-HSA-606346" ], "enzyme_list": [ "O60264-1", "Q9Y265-1" ], "evidence": [ { "id": "R-HSA-606287", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-606287" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-73682", "participant_name": "rDNA Promoter [nucleoplasm]", "crossref": [ { "id": "61120", "database": "ChEBI", "url": "" }, { "id": "61120", "database": "ChEBI", "url": "" }, { "id": "61120", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-HSA-205135", "participant_name": "HDAC2 [nucleoplasm]", "crossref": [ { "id": "Q92769", "database": "UniProt", "url": "" }, { "id": "7MOZ", "database": "PDB", "url": "" }, { "id": "Q92769", "database": "GeneCards", "url": "" }, { "id": "6WHN", "database": "PDB", "url": "" 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"database": "Ensembl", "url": "" }, { "id": "6XDM", "database": "PDB", "url": "" }, { "id": "ENST00000519065", "database": "Ensembl", "url": "" }, { "id": "HDAC2_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "HDAC2_HUMAN", "database": "ZINC - Investigational", "url": "" }, { "id": "Q92769", "database": "PRO", "url": "" }, { "id": "7ZZU", "database": "PDB", "url": "" }, { "id": "7ZZT", "database": "PDB", "url": "" }, { "id": "7KBG", "database": "PDB", "url": "" }, { "id": "ENST00000519108", "database": "Ensembl", "url": "" }, { "id": "5IX0", "database": "PDB", "url": "" }, { "id": "NP_001518.3", "database": "RefSeq", "url": "" }, { "id": "ENSG00000196591-HDAC2", "database": "HPA", "url": "" }, { "id": "7MOT", "database": "PDB", "url": "" }, { "id": "HDAC2_HUMAN", "database": "ZINC - World Drugs", "url": "" }, { "id": "7MOX", "database": "PDB", "url": "" }, { "id": "XP_011534090.1", "database": "RefSeq", "url": "" }, { "id": "HDAC2_HUMAN", "database": "ZINC - FDA 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"id": "Q13547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13547" } ] }, { "ec_number": "3.5.1.98", "activity": "", "evidence": [ { "id": "Q13547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13547" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q13547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13547" } ] } ] }, { "uniprot_ac": "Q92769", "gene_name": "HDAC2", "activity": [ { "ec_number": "3.5.1.98", "activity": "H2O + N(6)-acetyl-L-lysyl-[histone] = acetate + L-lysyl-[histone].", "evidence": [ { "id": "Q92769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92769" } ] }, { "ec_number": "3.5.1.98", "activity": "", "evidence": [ { "id": "Q92769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92769" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q92769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92769" } ] } ] }, { "uniprot_ac": "Q92830", "gene_name": "KAT2A", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q92830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92830" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q92830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92830" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q92830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92830" } ] } ] }, { "uniprot_ac": "Q92831", "gene_name": "KAT2B", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q92831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92831" } ] }, { "ec_number": "2.3.1.57", "activity": "acetyl-CoA + an alkane-alpha,omega-diamine = an N-acetylalkane-alpha,omega-diamine + CoA + H(+).", "evidence": [ { "id": "Q92831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92831" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q92831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92831" } ] } ] }, { "uniprot_ac": "Q9H9Y6", "gene_name": "POLR1B", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "Q9H9Y6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H9Y6" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "Q9H9Y6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H9Y6" } ] } ] }, { "uniprot_ac": "Q9NR30", "gene_name": "DDX21", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q9NR30", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NR30" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "Q9NR30", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NR30" } ] } ] }, { "uniprot_ac": "Q9UBC3", "gene_name": "DNMT3B", "activity": [ { "ec_number": "2.1.1.37", "activity": "a 2'-deoxycytidine in DNA + S-adenosyl-L-methionine = a 5-methyl-2'-deoxycytidine in DNA + H(+) + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9UBC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBC3" } ] }, { "ec_number": "2.1.1.37", "activity": "", "evidence": [ { "id": "Q9UBC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBC3" } ] } ] }, { "uniprot_ac": "Q9UIG0", "gene_name": "BAZ1B", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q9UIG0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UIG0" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "Q9UIG0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UIG0" } ] } ] }, { "uniprot_ac": "Q9Y265", "gene_name": "RUVBL1", "activity": [ { "ec_number": "3.6.4.12", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q9Y265", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y265" } ] }, { "ec_number": "3.6.4.12", "activity": "", "evidence": [ { "id": "Q9Y265", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y265" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 560, 1040 ], "glycation_sites": [], "phosphorylation_sites": [ 66, 113, 115, 116, 137, 171, 755, 825 ], "sequon_annotation_sites": [ { "start_pos": 30, "end_pos": 32 }, { "start_pos": 549, "end_pos": 551 }, { "start_pos": 702, "end_pos": 704 }, { "start_pos": 946, "end_pos": 948 } ] }, "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": 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