{ "uniprot_canonical_ac": "O14497-1", "uniprot_ac": "O14497", "uniprot_id": "ARI1A_HUMAN", "mass": { "chemical_mass": 242045.0, "monoisotopic_mass": 242045.0 }, "refseq": { "ac": "NP_006006", "name": "AT-rich interactive domain-containing protein 1A isoform a", "summary": "This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006" }, "gene_names": [ { "name": "ARID1A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14497", "id": "O14497" }, { "name": "ARID1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006", "id": "NP_006006" }, { "name": "B120; BAF250; BAF250a; BM029; C1orf4; CSS2; ELD; hELD; hOSA1; MRD14; OSA1; P270; SMARCF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006", "id": "NP_006006" }, { "name": "BAF250A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14497", "id": "O14497" }, { "name": "BAF250", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14497", "id": "O14497" }, { "name": "C1orf4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14497", "id": "O14497" }, { "name": "OSA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14497", "id": "O14497" }, { "name": "SMARCF1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14497", "id": "O14497" } ], "protein_names": [ { "name": "AT-rich interactive domain-containing protein 1A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14497" }, { "name": "ARID domain-containing protein 1A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" }, { "name": "AT-rich interactive domain-containing protein 1A isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006", "id": "NP_006006" }, { "name": "B120", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" }, { "name": "BAF250A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" }, { "name": "BAF250", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" }, { "name": "BRG1-associated factor 250a", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" }, { "name": "BRG1-associated factor 250", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" }, { "name": "Osa homolog 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" }, { "name": "SWI-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" }, { "name": "SWI/SNF complex protein p270; BRG1-associated factor 250a; chromatin remodeling factor p250; OSA1 nuclear protein; brain protein 120; osa homolog 1; SWI-like protein; ARID domain-containing protein 1A; SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1; AT rich interactive domain 1A (SWI-like)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006", "id": "NP_006006" }, { "name": "SWI/SNF complex protein p270", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" }, { "name": "SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" }, { "name": "hELD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" }, { "name": "hOSA1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14497" } ], "function": [ { "annotation": "ARID1A deficiency promotes progression and potentiates therapeutic antitumour immunity in hepatitis B virus-related hepatocellular carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006" }, { "database": "PubMed", "id": "38166741", "url": "https://glygen.org/publication/PubMed/38166741" } ] }, { "annotation": "ARID1A loss activates MAPK signaling via DUSP4 downregulation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006" }, { "database": "PubMed", "id": "38071325", "url": "https://glygen.org/publication/PubMed/38071325" } ] }, { "annotation": "Coexistent ARID1A-PIK3CA mutations are associated with immune-related pathways in luminal breast cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006" }, { "database": "PubMed", "id": "38017109", "url": "https://glygen.org/publication/PubMed/38017109" } ] }, { "annotation": "Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497#function" }, { "database": "PubMed", "id": "26601204", "url": "https://glygen.org/publication/PubMed/26601204" }, { "database": "UniProtKB", "id": "A2BH40", "url": "https://www.uniprot.org/uniprot/A2BH40#function" }, { "database": "PubMed", "id": "22952240", "url": "https://glygen.org/publication/PubMed/22952240" }, { "database": "PubMed", "id": "12672490", "url": "https://glygen.org/publication/PubMed/12672490" } ] }, { "annotation": "Targeting the TCA cycle through cuproptosis confers synthetic lethality on ARID1A-deficient hepatocellular carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_006006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006" }, { "database": "PubMed", "id": "37939712", "url": "https://glygen.org/publication/PubMed/37939712" } ] }, { "annotation": "This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006" } ] } ], "disease": [ { "disease_id": "DOID:0070044", "recommended_name": { "id": "DOID:0070044", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070044", "name": "Coffin-Siris syndrome 2", "description": "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11." }, "synonyms": [ { "id": "DOID:0070044", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070044", "name": "CSS2", "description": "" }, { "id": "DOID:0070044", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070044", "name": "MRD14", "description": "" }, { "id": "DOID:0070044", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070044", "name": "autosomal dominant mental retardation 14", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "intellectual disability, autosomal dominant 14", "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene." }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "ARID1A Coffin-Siris syndrome", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "ARID1A-related BAFopathy", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "CSS2", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "Coffin-Siris syndrome caused by mutation in ARID1A", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "MRD14", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "autosomal dominant intellectual disability 14", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "autosomal dominant mental retardation 14", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "intellectual disability, autosomal dominant 14", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "intellectual disability, autosomal dominant type 14", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "mental retardation, autosomal dominant type 14", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "COFFIN-SIRIS syndrome 2", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "Coffin-Siris syndrome 2", "description": "" }, { "id": "MONDO:0013819", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013819", "name": "mental retardation, autosomal dominant 14", "description": "" }, { "id": "MIM:614607", "resource": "MIM", "url": "https://www.omim.org/entry/614607", "name": "Coffin-Siris syndrome 2", "description": "Coffin-Siris syndrome 2" } ], "evidence": [ { "id": "614607", "database": "MIM", "url": "https://www.omim.org/entry/614607" } ] } ], "snv": [ { "evidence": [ { "id": "rs913551347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs913551347" }, { "id": "rs913551347", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs913551347#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 104, "end_pos": 104, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSN->NST).", "chr_id": "1", "chr_pos": "26696714", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753205954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753205954" }, { "id": "rs753205954", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753205954" }, { "id": "rs753205954", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753205954" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 106, "end_pos": 106, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGN->NGS).", "chr_id": "1", "chr_pos": "26696720", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148400981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148400981" }, { "id": "rs148400981", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148400981" }, { "id": "rs148400981", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148400981" }, { "id": "rs148400981", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148400981#frequency_tab" }, { "id": "rs148400981", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148400981" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1081, "end_pos": 1081, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "1", "chr_pos": "26771162", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "N1081", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14497", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14497" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1090, "end_pos": 1090, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "26771189", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1090", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1570614072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570614072" }, { "id": "rs1570614072", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1570614072" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1235, "end_pos": 1235, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "1", "chr_pos": "26772977", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1287651077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1287651077" }, { "id": "rs1287651077", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1287651077" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1242, "end_pos": 1242, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "26773354", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750682204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750682204" }, { "id": "rs750682204", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750682204" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1242, "end_pos": 1242, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "26773355", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14497", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14497" } ], "glycoeffect": [], "start_pos": 1262, "end_pos": 1262, "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": "1", "chr_pos": "26773414", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1262", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "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": 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"https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14497", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14497" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14497", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14497" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "common_name": "Human" } ], "gene": [ { "name": "ARID1A", "url": "https://www.uniprot.org/uniprot/O14497", "locus": { "chromosome": "1", "start_pos": 91080, "end_pos": 5001, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_875", "url": "https://www.ensembl.org/id/LRG_875" } ] } } ], "crossref": [ { "id": "ENSG00000117713", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117713", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O14497", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14497", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd16876", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16876", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ARID1A", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID1A", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8289", "url": "https://www.ncbi.nlm.nih.gov/gene/8289", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11110", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11110", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O14497", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14497*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001606", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001606", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR021906", "url": "https://www.ebi.ac.uk/interpro/entry/IPR021906", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030094", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030094", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036431", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036431", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8289", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8289", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603024", "url": "http://www.omim.org/entry/603024", "database": "MIM", "categories": [ "Other" ] }, { "id": "614607", "url": "http://www.omim.org/entry/614607", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14497", "url": "https://www.nextprot.org/entry/NX_O14497", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O14497", "url": "https://oglcnac.org/atlas/detail/O14497", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O14497", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14497", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CRPIDMD", "url": "https://omabrowser.org/oma/group/CRPIDMD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5477968at2759", "url": "http://www.orthodb.org/?query=5477968at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12656", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12656", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12656:SF12", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12656:SF12", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1RYU", "url": "https://www.rcsb.org/structure/1RYU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6LTH", "url": "https://www.rcsb.org/structure/6LTH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6LTJ", "url": "https://www.rcsb.org/structure/6LTJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01388", "url": "http://pfam.xfam.org/family/PF01388", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12031", "url": "http://pfam.xfam.org/family/PF12031", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14497", "url": "https://pharos.nih.gov/targets/O14497", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14497", "url": "http://purl.obolibrary.org/obo/PR_O14497", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8939243", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939243", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_006006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1B0GTU5", "url": "https://www.uniprot.org/uniprot/A0A1B0GTU5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GTU5-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GTU5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GVT5", "url": "https://www.uniprot.org/uniprot/A0A1B0GVT5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GVT5-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GVT5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQW6", "url": "https://www.uniprot.org/uniprot/E9PQW6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQW6-1", "url": "https://www.uniprot.org/uniprot/E9PQW6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y488", "url": "https://www.uniprot.org/uniprot/H0Y488", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y488-1", "url": "https://www.uniprot.org/uniprot/H0Y488-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YCU6", "url": "https://www.uniprot.org/uniprot/H0YCU6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YCU6-1", "url": "https://www.uniprot.org/uniprot/H0YCU6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEW5", "url": "https://www.uniprot.org/uniprot/H0YEW5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEW5-1", "url": "https://www.uniprot.org/uniprot/H0YEW5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14497-1", "url": "https://www.uniprot.org/uniprot/O14497-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14497-2", "url": "https://www.uniprot.org/uniprot/O14497-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14497-3", "url": "https://www.uniprot.org/uniprot/O14497-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAQVAPAAASSLGNPPPPPPSELKKAEQQQREEAGGEAAAAAAAERGEMKAAAGQESEGPAVGPPQPLGKELQDGAESNGGGGGGGAGSGGGPGAEPDLKNSNGNAGPRPALNNNLTEPPGGGGGGSSDGVGAPPHSAAAALPPPAYGFGQPYGRSPSAVAAAAAAVFHQQHGGQQSPGLAALQSGGGGGLEPYAGPQQNSHDHGFPNHQYNSYYPNRSAYPPPAPAYALSSPRGGTPGSGAAAAAGSKPPPSSSASASSSSSSFAQQRFGAMGGGGPSAAGGGTPQPTATPTLNQLLTSPSSARGYQGYPGGDYSGGPQDGGAGKGPADMASQCWGAAAAAAAAAAASGGAQQRSHHAPMSPGSSGGGGQPLARTPQPSSPMDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQPYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQQQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQPPHQQSPAPYPSQQSTTQQHPQSQPPYSQPQAQSPYQQQQPQQPAPSTLSQQAAYPQPQSQQSQQTAYSQQRFPPPQELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPGVSTSGISSSQGEQSNPAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVPGNQMPPRPPSGQSDSIMHPSMNQSSIAQDRGYMQRNPQMPQYSSPQPGSALSPRQPSGGQIHTGMGSYQQNSMGSYGPQGGQYGPQGGYPRQPNYNALPNANYPSAGMAGGINPMGAGGQMHGQPGIPPYGTLPPGRMSHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQETAVAMHVAANSIQNRPPGYPNMNQGGMMGTGPPYGQGINSMAGMINPQGPPYSMGGTMANNSAGMAASPEMMGLGDVKLTPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPERKMWVDRYLAFTEEKAMGMTNLPAVGRKPLDLYRLYVSVKEIGGLTQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQCLYAFECKIERGEDPPPDIFAAADSKKSQPKIQPPSPAGSGSMQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMSRSNSVGIQDAFNDGSDSTFQKRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGSMRKAPGSDPFMSSGQGPNGGMGDPYSRAAGPGLGNVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMSTGAPQPNLMPSNPDSGMYSPSRYPPQQQQQQQQRHDSYGNQFSTQGTPSGSPFPSQQTTMYQQQQQNYKRPMDGTYGPPAKRHEGEMYSVPYSTGQGQPQQQQLPPAQPQPASQQQAAQPSPQQDVYNQYGNAYPATATAATERRPAGGPQNQFPFQFGRDRVSAPPGTNAQQNMPPQMMGGPIQASAEVAQQGTMWQGRNDMTYNYANRQSTGSAPQGPAYHGVNRTDEMLHTDQRANHEGSWPSHGTRQPPYGPSAPVPPMTRPPPSNYQPPPSMQNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPVPASHIAPAPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGLLAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLIEIFGILKEYEVGDPGQRTLLDPGRFSKVSSPAPMEGGEEEEELLGPKLEEEEEEEVVENDEEIAFSGKDKPASENSEEKLISKFDKLPVKIVQKNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFESKTELLPSRPHAPCPPAPRKHVTTAEGTPGTTDQEGPPPDGPPEKRITATMDDMLSTRSSTLTEDGAKSSEAIKESSKFPFGISPAQSHRNIKILEDEPHSKDETPLCTLLDWQDSLAKRCVCVSNTIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERKQAPLTYEKEEEQDQGVSCNKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQDPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKNPVCREMAVVLLANLAQGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQNPPFEPTSVDMMRRAARALLALAKVDENHSEFTLYESRLLDISVSPLMNSLVSQVICDVLFLIGQS", "length": 2285, "header": "sp|O14497-1|ARI1A_HUMAN Isoform 1 of AT-rich interactive domain-containing protein 1A OS=Homo sapiens OX=9606 GN=ARID1A PE=1 SV=3 CANONICAL=O14497-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GTU5-1", "url": "", "sequence": { "sequence": "SPMDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQPYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQQQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQPPHQQSPAPYPSQQSTTQQHPQSQPPYSQPQAQSPYQQQQPQQPAPSTLSQQAAYPQPQSQQSQQTAYSQQRFPPPQELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPGVSTSGISSSQGEQSNPAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVPGNQMPPRPPSGQSDSIMHPSMNQSSIAQDRGYMQRNPQMPQYSSPQPGSALSPRQPSGGQIHTGMGSYQQNSMGSYGPQGGQYGPQGGYPRQPNYNALPNANYPSAGMAGGINPMGAGGQMHGQPGIPPYGTLPPGRMSHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQETAVAMHVAANSIQNRPPGYPNMNQGGMMGTGPPYGQGINSMAGMINPQGPPYSMGGTMANNSAGMAASPEMMGLGDVKLTPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPERKMWVDRYLAFTEEKAMGMTNLPAVGRKPLDLYRLYVSVKEIGGLTQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQCLYAFECKIERGEDPPPDIFAAADSKKSQPKIQPPSPAGSGSMQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMRSNSVGIQDAFNDGSDSTFQKRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGSMRKAPGSDPFMSSGQGPNGGMGDPYSRAAGPGLGNVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMSTGAPQPNLMPSNPDSGMYSPSRYPPQQQQQQQQRHDSYGNQFSTQGTPSGSPFPSQQTTMYQQQQQNYKRPMDGTYGPPAKRHEGEMYSVPYSTGQGQPQQQQLPPAQPQPASQQQAAQPSPQQDVYNQYGNAYPATATAATERRPAGGPQNQFPFQFGRDRVSAPPGTNAQQNMPPQMMGGPIQASAEVAQQGTMWQGRNDMTYNYANRQSTGSAPQGPAYHGVNRTDEMLHTDQRANHEGSWPSHGTRQPPYGPSAPVPPMTRPPPSNYQPPPSMQNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPVPASHIAPAPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGLLAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLIEIFGILKEYEVGDPGQRTLLDPGRFSKVSSPAPMEGGEEEEELLGPKLEEEEEEEVVENDEEIAFSGKDKPASENSEEKLISKFDKLPVKIVQKNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFESKTELLPSRPHAPCPPAPRKHVTTAEGTPGTTDQEGPPPDGPPEKRITATMDDMLSTRSSTLTEDGAKSSEAIKESSKFPFGISPAQSHRNIKILEDEPHSKDETPLCTLLDWQDSLAKRCVCVSNTIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERKQAPLTYEKEEEQDQGVSCNKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQDPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKNPVCREMAVVLLANLAQGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQNPPFEPTSVDMMRRAARALLALAKVDENHSEFTLYESRLLDISVSPLMNSLVSQVICDVLFLIGQS", "length": 1903, "header": "tr|A0A1B0GTU5-1|A0A1B0GTU5_HUMAN Computationally mapped isoform of AT-rich interaction domain 1A OS=Homo sapiens OX=9606 GN=ARID1A PE=1 SV=1 CANONICAL=O14497-1" }, "locus": { "chromosome": "1", "start_pos": 26780753, "end_pos": 26729657, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636219.1", "url": "https://www.ensembl.org/id/ENST00000636219.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489842.1", "url": "https://www.ensembl.org/id/ENSP00000489842.1" } ] } }, { "isoform_ac": "A0A1B0GVT5-1", "url": "", "sequence": { "sequence": "MDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQPYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQQQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQPPHQQSPAPYPSQQSTTQQHPQSQPPYSQPQAQSPYQQQQPQQPAPSTLSQQAAYPQPQSQQSQQ", "length": 206, "header": "tr|A0A1B0GVT5-1|A0A1B0GVT5_HUMAN Computationally mapped isoform of AT-rich interaction domain 1A OS=Homo sapiens OX=9606 GN=ARID1A PE=1 SV=1 CANONICAL=O14497-1" }, "locus": { "chromosome": "1", "start_pos": 26731568, "end_pos": 26729663, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637465.1", "url": "https://www.ensembl.org/id/ENST00000637465.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490650.1", "url": "https://www.ensembl.org/id/ENSP00000490650.1" } ] } }, { "isoform_ac": "E9PQW6-1", "url": "", "sequence": { "sequence": "MDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQPYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQQQPPYSQQPPSQTPHAQPSYQQQPQ", "length": 122, "header": "tr|E9PQW6-1|E9PQW6_HUMAN Computationally mapped isoform of AT-rich interaction domain 1A OS=Homo sapiens OX=9606 GN=ARID1A PE=1 SV=8 CANONICAL=O14497-1" }, "locus": { "chromosome": "1", "start_pos": 26731316, "end_pos": 26729663, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524572.1", "url": "https://www.ensembl.org/id/ENST00000524572.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000432473.1", "url": "https://www.ensembl.org/id/ENSP00000432473.1" } ] } }, { "isoform_ac": "H0Y488-1", "url": "", "sequence": { "sequence": "MDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQPYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQQQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQPPHQQSPAPYPSQQSTTQQHPQSQPPYSQPQAQSPYQQQQPQQPAPSTLSQQAAYPQPQSQQSQQTAYSQQRFPPPQELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPGVSTSGISSSQGEQSNPAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVPGNQMPPRPPSGQSDSIMHPSMNQSSIAQDRGYMQRNPQMPQYSSPQPGSALSPRQPSGGQIHTGMGSYQQNSMGSYGPQGGQYGPQGGYPRQPNYNALPNANYPSAGMAGGINPMGAGGQMHGQPGIPPYGTLPPGRMSHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQETAVAMHVAANSIQNRPPGYPNMNQGGMMGTGPPYGQGINSMAGMINPQGPPYSMGGTMANNSAGMAASPEMMGLGDVKLTPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPERKMWVDRYLAFTEEKAMGMTNLPAVGRKPLDLYRLYVSVKEIGGLTQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQCLYAFECKIERGEDPPPDIFAAADSKKSQPKIQPPSPAGSGSMQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMRSNSVGIQDAFNDGSDSTFQKRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGSMRKAPGSDPFMSSGQGPNGGMGDPYSRAAGPGLGNVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMSTGAPQPNLMPSNPDSGMYSPSRYPPQQQQQQQQRHDSYGNQFSTQGTPSGSPFPSQQTTMYQQQQQNYKRPMDGTYGPPAKRHEGEMYSVPYSTGQGQPQQQQLPPAQPQPASQQQAAQPSPQQDVYNQYGNAYPATATAATERRPAGGPQNQFPFQFGRDRVSAPPGTNAQQNMPPQMMGGPIQASAEVAQQGTMWQGRNDMTYNYANRQSTGSAPQGPAYHGVNRTDEMLHTDQRANHEGSWPSHGTRQPPYGPSAPVPPMTRPPPSNYQPPPSMQNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPVPASHIAPAPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGLLAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLIEIFGILKEYEVGDPGQRTLLDPGRFSKVSSPAPMEGGEEEEELLGPKLEEEEEEEVVENDEEIAFSGKDKPASENSEEKLISKFDKLPVKIVQKNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFESKTELLPSRPHAPCPPAPRKHVTTAEGTPGTTDQEGPPPDGPPEKRITATMDDMLSTRSSTLTEDGAKSSEAIKESSKFPFGISPAQSHRNIKILEDEPHSKDETPLCTLLDWQDSLAKRCVCVSNTIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERKQAPLTYEKEEEQDQGVSCNKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQDPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKNPVCREMAVVLLANLAQGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQNPPFEPTSVDMMRRAARALLALAKVDENHSEFTLYESRLLDISVSPLMNSLVSQVICDVLFLIGQS", "length": 1901, "header": "tr|H0Y488-1|H0Y488_HUMAN Computationally mapped isoform of AT-rich interaction domain 1A OS=Homo sapiens OX=9606 GN=ARID1A PE=1 SV=2 CANONICAL=O14497-1" }, "locus": { "chromosome": "1", "start_pos": 26780753, "end_pos": 26729663, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430799.7", "url": "https://www.ensembl.org/id/ENST00000430799.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000390317.3", "url": "https://www.ensembl.org/id/ENSP00000390317.3" } ] } }, { "isoform_ac": "H0YCU6-1", "url": "", "sequence": { "sequence": "XPYGSMRKAPGSDPFMSSGQGPNGGMGDPYSRAAGPGLGNVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMSTGAPQPNLMPSNPDSGMYSPSRYPPQQQQQQQQRHDSYGNQFSTQGTPSGSPFPSQQTTMYQQQQQEPRRHGG", "length": 144, "header": "tr|H0YCU6-1|H0YCU6_HUMAN Computationally mapped isoform of AT-rich interaction domain 1A OS=Homo sapiens OX=9606 GN=ARID1A PE=1 SV=1 CANONICAL=O14497-1" }, "locus": { "chromosome": "1", "start_pos": 26775598, "end_pos": 26772964, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000466382.2", "url": "https://www.ensembl.org/id/ENST00000466382.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000432368.1", "url": "https://www.ensembl.org/id/ENSP00000432368.1" } ] } }, { "isoform_ac": "H0YEW5-1", "url": "", "sequence": { "sequence": "XGTRQPPYGPSAPVPPMTRPPPSNYQPPPSMQNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPVPASHIAPAPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGLLAESTWALDTINILLYDDNSIMTFNLSQISSMPVLCFLCLWARAQDFDSNNNLFT", "length": 188, "header": "tr|H0YEW5-1|H0YEW5_HUMAN Computationally mapped isoform of AT-rich interaction domain 1A OS=Homo sapiens OX=9606 GN=ARID1A PE=1 SV=1 CANONICAL=O14497-1" }, "locus": { "chromosome": "1", "start_pos": 26775898, "end_pos": 26774870, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532781.1", "url": "https://www.ensembl.org/id/ENST00000532781.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436692.1", "url": "https://www.ensembl.org/id/ENSP00000436692.1" } ] } }, { "isoform_ac": "O14497-1", "url": "", "sequence": { "sequence": "MAAQVAPAAASSLGNPPPPPPSELKKAEQQQREEAGGEAAAAAAAERGEMKAAAGQESEGPAVGPPQPLGKELQDGAESNGGGGGGGAGSGGGPGAEPDLKNSNGNAGPRPALNNNLTEPPGGGGGGSSDGVGAPPHSAAAALPPPAYGFGQPYGRSPSAVAAAAAAVFHQQHGGQQSPGLAALQSGGGGGLEPYAGPQQNSHDHGFPNHQYNSYYPNRSAYPPPAPAYALSSPRGGTPGSGAAAAAGSKPPPSSSASASSSSSSFAQQRFGAMGGGGPSAAGGGTPQPTATPTLNQLLTSPSSARGYQGYPGGDYSGGPQDGGAGKGPADMASQCWGAAAAAAAAAAASGGAQQRSHHAPMSPGSSGGGGQPLARTPQPSSPMDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQPYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQQQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQPPHQQSPAPYPSQQSTTQQHPQSQPPYSQPQAQSPYQQQQPQQPAPSTLSQQAAYPQPQSQQSQQTAYSQQRFPPPQELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPGVSTSGISSSQGEQSNPAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVPGNQMPPRPPSGQSDSIMHPSMNQSSIAQDRGYMQRNPQMPQYSSPQPGSALSPRQPSGGQIHTGMGSYQQNSMGSYGPQGGQYGPQGGYPRQPNYNALPNANYPSAGMAGGINPMGAGGQMHGQPGIPPYGTLPPGRMSHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQETAVAMHVAANSIQNRPPGYPNMNQGGMMGTGPPYGQGINSMAGMINPQGPPYSMGGTMANNSAGMAASPEMMGLGDVKLTPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPERKMWVDRYLAFTEEKAMGMTNLPAVGRKPLDLYRLYVSVKEIGGLTQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQCLYAFECKIERGEDPPPDIFAAADSKKSQPKIQPPSPAGSGSMQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMSRSNSVGIQDAFNDGSDSTFQKRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGSMRKAPGSDPFMSSGQGPNGGMGDPYSRAAGPGLGNVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMSTGAPQPNLMPSNPDSGMYSPSRYPPQQQQQQQQRHDSYGNQFSTQGTPSGSPFPSQQTTMYQQQQQNYKRPMDGTYGPPAKRHEGEMYSVPYSTGQGQPQQQQLPPAQPQPASQQQAAQPSPQQDVYNQYGNAYPATATAATERRPAGGPQNQFPFQFGRDRVSAPPGTNAQQNMPPQMMGGPIQASAEVAQQGTMWQGRNDMTYNYANRQSTGSAPQGPAYHGVNRTDEMLHTDQRANHEGSWPSHGTRQPPYGPSAPVPPMTRPPPSNYQPPPSMQNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPVPASHIAPAPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGLLAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLIEIFGILKEYEVGDPGQRTLLDPGRFSKVSSPAPMEGGEEEEELLGPKLEEEEEEEVVENDEEIAFSGKDKPASENSEEKLISKFDKLPVKIVQKNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFESKTELLPSRPHAPCPPAPRKHVTTAEGTPGTTDQEGPPPDGPPEKRITATMDDMLSTRSSTLTEDGAKSSEAIKESSKFPFGISPAQSHRNIKILEDEPHSKDETPLCTLLDWQDSLAKRCVCVSNTIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERKQAPLTYEKEEEQDQGVSCNKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQDPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKNPVCREMAVVLLANLAQGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQNPPFEPTSVDMMRRAARALLALAKVDENHSEFTLYESRLLDISVSPLMNSLVSQVICDVLFLIGQS", "length": 2285, "header": "sp|O14497-1|ARI1A_HUMAN Isoform 1 of AT-rich interactive domain-containing protein 1A OS=Homo sapiens OX=9606 GN=ARID1A PE=1 SV=3 CANONICAL=O14497-1" }, "locus": { "chromosome": "1", "start_pos": 26780753, "end_pos": 26696404, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000324856.13", "url": "https://www.ensembl.org/id/ENST00000324856.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000320485.7", "url": "https://www.ensembl.org/id/ENSP00000320485.7" } ] } }, { "isoform_ac": "O14497-2", "url": "", "sequence": { "sequence": "MAAQVAPAAASSLGNPPPPPPSELKKAEQQQREEAGGEAAAAAAAERGEMKAAAGQESEGPAVGPPQPLGKELQDGAESNGGGGGGGAGSGGGPGAEPDLKNSNGNAGPRPALNNNLTEPPGGGGGGSSDGVGAPPHSAAAALPPPAYGFGQPYGRSPSAVAAAAAAVFHQQHGGQQSPGLAALQSGGGGGLEPYAGPQQNSHDHGFPNHQYNSYYPNRSAYPPPAPAYALSSPRGGTPGSGAAAAAGSKPPPSSSASASSSSSSFAQQRFGAMGGGGPSAAGGGTPQPTATPTLNQLLTSPSSARGYQGYPGGDYSGGPQDGGAGKGPADMASQCWGAAAAAAAAAAASGGAQQRSHHAPMSPGSSGGGGQPLARTPQPSSPMDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQPYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQQQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQPPHQQSPAPYPSQQSTTQQHPQSQPPYSQPQAQSPYQQQQPQQPAPSTLSQQAAYPQPQSQQSQQTAYSQQRFPPPQELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPGVSTSGISSSQGEQSNPAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVPGNQMPPRPPSGQSDSIMHPSMNQSSIAQDRGYMQRNPQMPQYSSPQPGSALSPRQPSGGQIHTGMGSYQQNSMGSYGPQGGQYGPQGGYPRQPNYNALPNANYPSAGMAGGINPMGAGGQMHGQPGIPPYGTLPPGRMSHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQETAVAMHVAANSIQNRPPGYPNMNQGGMMGTGPPYGQGINSMAGMINPQGPPYSMGGTMANNSAGMAASPEMMGLGDVKLTPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPERKMWVDRYLAFTEEKAMGMTNLPAVGRKPLDLYRLYVSVKEIGGLTQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQCLYAFECKIERGEDPPPDIFAAADSKKSQPKIQPPSPAGSGSMQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMSRSNSVGIQDAFNDGSDSTFQKRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGSMRKAPGSDPFMSSGQGPNGGMGDPYSRAAGPGLGNVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMSTGAPQPNLMPSNPDSGMYSPSRYPPQQQQQQQQRHDSYGNQFSTQGTPSGSPFPSQQTTMYQQQQQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPVPASHIAPAPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGLLAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLIEIFGILKEYEVGDPGQRTLLDPGRFSKVSSPAPMEGGEEEEELLGPKLEEEEEEEVVENDEEIAFSGKDKPASENSEEKLISKFDKLPVKIVQKNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFESKTELLPSRPHAPCPPAPRKHVTTAEGTPGTTDQEGPPPDGPPEKRITATMDDMLSTRSSTLTEDGAKSSEAIKESSKFPFGISPAQSHRNIKILEDEPHSKDETPLCTLLDWQDSLAKRCVCVSNTIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERKQAPLTYEKEEEQDQGVSCNKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQDPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKNPVCREMAVVLLANLAQGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQNPPFEPTSVDMMRRAARALLALAKVDENHSEFTLYESRLLDISVSPLMNSLVSQVICDVLFLIGQS", "length": 2068, "header": "sp|O14497-2|ARI1A_HUMAN Isoform 2 of AT-rich interactive domain-containing protein 1A OS=Homo sapiens OX=9606 GN=ARID1A PE=1 SV=3 CANONICAL=O14497-1" }, "locus": { "chromosome": "1", "start_pos": 26780753, "end_pos": 26696404, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457599.6", "url": "https://www.ensembl.org/id/ENST00000457599.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000387636.2", "url": "https://www.ensembl.org/id/ENSP00000387636.2" } ] } }, { "isoform_ac": "O14497-3", "url": "", "sequence": { "sequence": "MDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQPYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQQQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQPPHQQSPAPYPSQQSTTQQHPQSQPPYSQPQAQSPYQQQQPQQPAPSTLSQQAAYPQPQSQQSQQTAYSQQRFPPPQELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPGVSTSGISSSQGEQSNPAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVPGNQMPPRPPSGQSDSIMHPSMNQSSIAQDRGYMQRNPQMPQYSSPQPGSALSPRQPSGGQIHTGMGSYQQNSMGSYGPQGGQYGPQGGYPRQPNYNALPNANYPSAGMAGGINPMGAGGQMHGQPGIPPYGTLPPGRMSHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQETAVAMHVAANSIQNRPPGYPNMNQGGMMGTGPPYGQGINSMAGMINPQGPPYSMGGTMANNSAGMAASPEMMGLGDVKLTPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPERKMWVDRYLAFTEEKAMGMTNLPAVGRKPLDLYRLYVSVKEIGGLTQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQCLYAFECKIERGEDPPPDIFAAADSKKSQPKIQPPSPAGSGSMQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMSRSNSVGIQDAFNDGSDSTFQKRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGSMRKAPGSDPFMSSGQGPNGGMGDPYSRAAGPGLGNVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMSTGAPQPNLMPSNPDSGMYSPSRYPPQQQQQQQQRHDSYGNQFSTQGTPSGSPFPSQQTTMYQQQQQNYKRPMDGTYGPPAKRHEGEMYSVPYSTGQGQPQQQQLPPAQPQPASQQQAAQPSPQQDVYNQYGNAYPATATAATERRPAGGPQNQFPFQFGRDRVSAPPGTNAQQNMPPQMMGGPIQASAEVAQQGTMWQGRNDMTYNYANRQSTGSAPQGPAYHGVNRTDEMLHTDQRANHEGSWPSHGTRQPPYGPSAPVPPMTRPPPSNYQPPPSMQNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPVPASHIAPAPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGLLAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLIEIFGILKEYEVGDPGQRTLLDPGRFSKVSSPAPMEGGEEEEELLGPKLEEEEEEEVVENDEEIAFSGKDKPASENSEEKLISKFDKLPVKIVQKNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFESKTELLPSRPHAPCPPAPRKHVTTAEGTPGTTDQEGPPPDGPPEKRITATMDDMLSTRSSTLTEDGAKSSEAIKESSKFPFGISPAQSHRNIKILEDEPHSKDETPLCTLLDWQDSLAKRCVCVSNTIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERKQAPLTYEKEEEQDQGVSCNKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQDPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKNPVCREMAVVLLANLAQGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQNPPFEPTSVDMMRRAARALLALAKVDENHSEFTLYESRLLDISVSPLMNSLVSQVICDVLFLIGQS", "length": 1902, "header": "sp|O14497-3|ARI1A_HUMAN Isoform 3 of AT-rich interactive domain-containing protein 1A OS=Homo sapiens OX=9606 GN=ARID1A PE=1 SV=3 CANONICAL=O14497-1" }, "locus": { "chromosome": "1", "start_pos": 26780753, "end_pos": 26729663, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374152.7", "url": "https://www.ensembl.org/id/ENST00000374152.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000363267.2", "url": "https://www.ensembl.org/id/ENSP00000363267.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1090, "start_aa": "Ser", "end_pos": 1090, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1090", "evidence": [ { "id": "O14497", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14497" }, { "id": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" 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Biol.", "date": "2000", "authors": "Nie Z, Xue Y, Yang D, Zhou S, Deroo B J, Archer T K, Wang W", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "reference": [ { "type": "PubMed", "id": "11073988", "url": "https://glygen.org/publication/PubMed/11073988" } ] }, { "title": "Characterization of mammalian orthologues of the Drosophila osa gene: cDNA cloning, expression, chromosomal localization, and direct physical interaction with Brahma chromatin-remodeling complex.", "journal": "Genomics", "date": "2001", "authors": "Kozmik Z, Machon O, Kr\u00e1lov\u00e1 J, Kreslov\u00e1 J, Paces J, Vlcek C", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "reference": [ { "type": "PubMed", "id": "11318604", "url": "https://glygen.org/publication/PubMed/11318604" } ] }, { "title": "Methylation of histone H3 by coactivator-associated arginine methyltransferase 1.", "journal": "Biochemistry", "date": "2001", "authors": "Schurter BT, Koh SS, Chen D, Bunick GJ, Harp JM, Hanson BL, Henschen-Edman A, Mackay DR, Stallcup MR, Aswad DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "11341840", "url": "https://glygen.org/publication/PubMed/11341840" } ] }, { "title": "Methylation of histone H4 at arginine 3 occurs in vivo and is mediated by the nuclear receptor coactivator PRMT1.", "journal": "Current biology : CB", "date": "2001", "authors": "Strahl BD, Briggs SD, Brame CJ, Caldwell JA, Koh SS, Ma H, Cook RG, Shabanowitz J, Hunt DF, Stallcup MR, Allis CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "11448779", "url": "https://glygen.org/publication/PubMed/11448779" } ] }, { "title": "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones.", "journal": "J. 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biomedical science", "date": "2023-12-09", "authors": "Mandal Jayaprakash, Yu Zheng-Cheng, Shih Ie-Ming, Wang Tian-Li", "evidence": [ { "database": "RefSeq", "id": "NP_006006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006" } ], "reference": [ { "type": "PubMed", "id": "38071325", "url": "https://glygen.org/publication/PubMed/38071325" } ] }, { "title": "ARID1A deficiency promotes progression and potentiates therapeutic antitumour immunity in hepatitis B virus-related hepatocellular carcinoma.", "journal": "BMC gastroenterology", "date": "2024-01-02", "authors": "Xing Tao, Li Li, Rao Xiaosong, Zhao Jing, Chen Yiran, Ju Gaoda, Xu Yaping, Gao Xuan, Dong Guilan, Xia Xuefeng, Guan Yanfang, Zhang Lingling, Wen Zhenping, Liang Jun", "evidence": [ { "database": "RefSeq", "id": "NP_006006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006" } ], "reference": [ { "type": "PubMed", "id": "38166741", "url": "https://glygen.org/publication/PubMed/38166741" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14497", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14497" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Diversity and specialization of mammalian SWI/SNF complexes.", "journal": "Genes Dev.", "date": "1996", "authors": "Wang W, Xue Y, Zhou S, Kuo A, Cairns B R, Crabtree G R", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "reference": [ { "type": "PubMed", "id": "8804307", "url": "https://glygen.org/publication/PubMed/8804307" } ] }, { "title": "Molecular cloning and expression of a novel human cDNA containing CAG repeats.", "journal": "Gene", "date": "1997", "authors": "Takeuchi T, Chen B K, Qiu Y, Sonobe H, Ohtsuki Y", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "reference": [ { "type": "PubMed", "id": "9434167", "url": "https://glygen.org/publication/PubMed/9434167" } ] }, { "title": "PRMT 3, a type I protein arginine N-methyltransferase that differs from PRMT1 in its oligomerization, subcellular localization, substrate specificity, and regulation.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Tang J, Gary JD, Clarke S, Herschman HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "9642256", "url": "https://glygen.org/publication/PubMed/9642256" } ] } ], "pathway": [ { "id": "hsa:8289", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8289", "resource": "KEGG Pathway" }, { "id": "R-HSA-3214858", "name": "RMTs methylate histone arginines", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858", "resource": "Reactome", "description": "RMTs methylate histone arginines" }, { "id": "R-HSA-8939243", "name": "RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939243", "resource": "Reactome", "description": "RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6AJE2-1", "protein_name": "AT-rich interaction domain 1A", "gene_name": "Arid1a", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAQVAPAAASSLGNPPPPPSELKKAEQQQREEAGGEAAAAAAERGEMKAAAGQESEGPAVGPPQPLGKELQDGAESNGGGGGGGAGSGGGPGAEPDLKNSNGNAGPRPALNNNLTEPPGGGGGSSDGVGAPPHSAAAALPPPAYGFGQPYGRSPSAVAAAAAAVFHQQHGGQQSPGLAALQSGGGGGLEPYAGPQQNSHDHGFPNHQYNSYYPNRSAYPPPPQAYALSSPRGGTPGSGAAAAGSKPPPSSSASASSSSSSFAPQRFGAMGGGGPSAAGGGTPQPTATPTLNQLLTSPSSARGYQGYPGGDYGGGPQDGGAGKGPADMASQCWGAAAAAAAAAAASGGAQQRSHHAPMSPGSSGGGGQPLARTPQSSSPMDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQPYGSQTPQRYPMTMQGRAQSAMGSLSYAQQIPPYGQQGPSAYGQQGQTPYYNQQSPHPQQQQQPPYSQQPPSQTPHAQPSYQQQPQTQQPQLQSSQPPYSQQPSQPPHQQSQTPYPSQQSTTQQHPQSQPPYSQPQAQAPYQQQQPQQPASSTLSQQAAYPQPQPQQSQQTAYSQQRFPPPQELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPGVSTSGISSSQGEQSNPAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVPGNQMPPRPPSGQSDSIMHPSMNQSSIAQDRGYMQRNPQMPQYTSPQPGSALSPRQPSGGQMHSGMGSYQQNSMGSYGPQGSQYGPQGGYPRQPNYNALPNANYPSAGMAGSMNPLGAGGQMHGQPGIPPYGTLPPGRMTHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQESAVAMHVAANSIQNRPPGYPNMNQGGIMGTGPPYGQGINSMAGMINPQGPPYPMGGTMANNSAGMAASPEMMGLGDVKLTPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPERKMWVDRYLAFTEEKAMGMTNLPAVGRKPLDLYRLYVSVKEIGGLTQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQCLYAFECKIERGEDPPPDIFAAADSKKSQPKIQPPSPAGSGSMQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMSRSNSVGIQDAFPDGSEPTFQKRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGGMRKAPGSDPFMSSGQGPNGGMGDPYSRAAGPGLGNVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMGTGAPQPNLMPSTPDSGMYSPSRYPPQQQQQQQQQQQQQQQQQQRHDSYGNQFSTQGTPSSSPFPSQQTTMYQQQQQQNYKRPMDGTYGPPAKRHEGELYSVPYSTGQGQPQQQQLPAAQSQSASQPQAAQPSPQQDVYNQYSNAYPATATAATERRPAGGPQNQFPFQFGRDRVSAPPGSNAQQNMPPQMMGGPIQASAEVAQQGTMWQGRNDMTYNYANRQNTGSAPQGPAYHGVNRTDEMLHTDQRANHEGPWPSHGTRQPPYGPSAPVPPMTRPPPSNYQPPPSMQNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPVPASHIAPTPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGLLAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLIEIFGILKEYEVGDPGQRTLLDPGRLTKVSSPAPTEEEEEEEHVDPKLEEEEEEGVENDEEMAFLGKDKPPSEKSEEKLVSKFDKLPVKIVQKNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFESKIELLPSRPCVPSPVPPRKHVTTVEGTPGTTEQEGPPPDGLPEKRITATMDDMLSTRSSTLTDEGTKSTEANKESSKFPFGISPAQSHRNIKILEDEPHSKDETPLCTLLDWQDSLAKRCVCVSNAIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERKQAPLTYEKEEEQDQGVSCDKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQDPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKNPVCREMAVVLLANLAQGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQSPPFEPTSVDMMRRAARALLALAKVDENHSEFTLYESRLLDISVSPLMNSLVSQVICDVLFLIGQS", "length": 2291 }, "evidence": [ { "id": "O14497", "url": "https://omabrowser.org/oma/group/O14497/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "A2BH40-1", "protein_name": "AT-rich interactive domain-containing protein 1A", "gene_name": "Arid1a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAQVAPAAASSLGNPPPPPSELKKAEQQQREEAGGEAAAAAAERGEMKAAAGQESEGPAVGPPQPLGKELQDGAESNGGGGGGGAGSGGGPGAEPDLKNSNGNAGPRPALNNNLPEPPGGGGGGGSSSSDGVGAPPHSAAAALPPPAYGFGQAYGRSPSAVAAAAAAVFHQQHGGQQSPGLAALQSGGGGGLEPYAGPQQNSHDHGFPNHQYNSYYPNRSAYPPPPQAYALSSPRGGTPGSGAAAAAGSKPPPSSSASASSSSSSFAQQRFGAMGGGGPSAAGGGTPQPTATPTLNQLLTSPSSARGYQGYPGGDYGGGPQDGGAGKGPADMASQCWGAAAAAAAAAAAVSGGAQQRSHHAPMSPGSSGGGGQPLARTPQSSSPMDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQPYGSQTPQRYPMTMQGRAQSAMGSLSYAQQIPPYGQQGPSAYGQQGQTPYYNQQSPHPQQQPPYAQQPPSQTPHAQPSYQQQPQTQQPQLQSSQPPYSQQPSQPPHQQSPTPYPSQQSTTQQHPQSQPPYSQPQAQSPYQQQQPQQPASSSLSQQAAYPQPQPQQSQQTAYSQQRFPPPQELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPGVSTSGISSSQGEQSNPAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVPGNQMPPRPPSGQSDSIMHPSMNQSSIAQDRGYMQRNPQMPQYTSPQPGSALSPRQPSGGQMHSGVGSYQQNSMGSYGPQGSQYGPQGGYPRQPNYNALPNANYPNAGMAGSMNPMGAGGQMHGQPGIPPYGTLPPGRMAHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQESAVAMHVAANSIQNRPPGYPNMNQGGMMGTGPPYGQGINSMAGMINPQGPPYPMGGTMANNSAGMAASPEMMGLGDVKLTPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPERKMWVDRYLAFTEEKAMGMTNLPAVGRKPLDLYRLYVSVKEIGGLTQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQCLYAFECKIERGEDPPPDIFAAADSKKSQPKIQPPSPAGSGSMQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMSRSNSVGIQDAFPDGSDPTFQKRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGSMRKAPGSDPFMSSGQGPNGGMGDPYSRAAGPGLGSVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMGTGAPQPNLMPSTPDSGMYSPSRYPPQQQQQQQQQHDSYGNQFSTQGTPSSSPFPSQQTTMYQQQQQNYKRPMDGTYGPPAKRHEGEMYSVPYSAGQGQPQQQQLPAAQSQPASQPQAAQPSPQQDVYNQYSNAYPASATAATDRRPAGGPQNQFPFQFGRDRVSAPPGSSAQQNMPPQMMGGPIQASAEVAQQGTMWQGRNDMTYNYANRQNTGSATQGPAYHGVNRTDEMLHTDQRANHEGPWPSHGTRQPPYGPSAPVPPMTRPPPSNYQPPPSMPNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPVPASHIAPTPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGLLAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLIEIFGILKEYEVGDPGQRTLLDPGRFTKVYSPAHTEEEEEEHLDPKLEEEEEEGVGNDEEMAFLGKDKPSSENNEEKLVSKFDKLPVKIVQRNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFESKIELLPSRPYVPCPTPPRKHLTTVEGTPGTTEQEGPPPDGLPEKRITATMDDMLSTRSSTLTDEGAKSAEATKESSKFPFGISPAQSHRNIKILEDEPHSKDETPLCTLLDWQDSLAKRCVCVSNTIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERKQAPLTYEKEEEQDQGVSCDKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQDPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKNPVCREMAVVLLANLAQGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQNPPFEPTSVDMMRRAARALLALAKVDENHSEFTLYESRLLDISVSPLMNSLVSQVICDVLFLIGQS", "length": 2283 }, "evidence": [ { "id": "45929011", "url": "http://www.informatics.jax.org/homology/45929011", "database": "MGI" }, { "id": "O14497", "url": "https://omabrowser.org/oma/group/O14497/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q8IN94-1", "protein_name": "Trithorax group protein osa", "gene_name": "osa", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MNEKIKSPQTQQQQQGGAPAPAATPPSAGAAPGAATPPTSGPPTPNNNSNNGSDPSIQQQQQNVAPHPYGAPPPPGSGPGGPPGPDPAAVMHYHHLHQQQQQHPPPPHMQQQQHHGGPAPPPPGGAPEHAPGVKEEYTHLPPPHPHPAYGRYHADPNMDPYRYGQPLPGGKPPQQQQPHPQQQPPQQPGPGGSPNRPPQQRYIPGQPPQGPTPTLNSLLQSSNPPPPPQHRYANTYDPQQAAASAAAAAAAQQQQAGGPPPPGHGPPPPQHQPSPYGGQQGGWAPPPRPYSPQLGPSQQYRTPPPTNTSRGQSPYPPAHGQNSGSYPSSPQQQQQQQQQQQQQAGQQPGGPVPGGPPPGTGQQPPQQNTPPTSQYSPYPQRYPTPPGLPAGGSNHRTAYSTHQYPEPNRPWPGGSSPSPGSGHPLPPASPHHVPPLQQQPPPPPHVSAGGPPPSSSPGHAPSPSPQPSQASPSPHQELIGQNSNDSSSGGAHSGMGSGPPGTPNPQQVMRPTPSPTGSSGSRSMSPAVAQNHPISRPASNQSSSGGPMQQPPVGAGGPPPMPPHPGMPGGPPQQQQSQQQQASNSASSASNSPQQTPPPAPPPNQGMNNMATPPPPPQGAAGGGYPMPPHMHGGYKMGGPGQSPGAQGYPPQQPQQYPPGNYPPRPQYPPGAYATGPPPPPTSQAGAGGANSMPSGAQAGGYPGRGMPNHTGQYPPYQWVPPSPQQTVPGGAPGGAMVGNHVQGKGTPPPPVVGGPPPPQGSGSPRPLNYLKQHLQHKGGYGGSPTPPQGPQGYGNGPTGMHPGMPMGPPHHMGPPHGPTNMGPPTSTPPQSQMLQGGQPQGQGASGGPESGGPEHISQDNGISSSGPTGAAGMHAVTSVVTTGPDGTSMDEVSQQSTLSNASAASGEDPQCTTPKSRKNDPYSQSHLAPPSTSPHPVVMHPGGGPGEEYDMSSPPNWPRPAGSPQVFNHVPVPQEPFRSTITTTKKSDSLCKLYEMDDNPDRRGWLDKLRAFMEERRTPITACPTISKQPLDLYRLYIYVKERGGFVEVTKSKTWKDIAGLLGIGASSSAAYTLRKHYTKNLLTFECHFDRGDIDPLPIIQQVEAGSKKKTAKAASVPSPGGGHLDAGTTNSTGSSNSQDSFPAPPGSAPNAAIDGYPGYPGGSPYPVASGPQPDYATAGQMQRPPSQNNPQTPHPGAAAAVAAGDNISVSNPFEDPIAAGGGPGSGTGPGPGQGPGPGAASGGAGAVGAVGGGPQPHPPPPHSPHTAAQQAAGQHQQQHPQHQHPGLPGPPPPQQQQGQQGQQPPPSVGGGPPPAPQQHGPGQVPPSPQQHVRPAAGAPYPPGGSGYPTPVSRTPGSPYPSQPGAYGQYGSSDQYNATGPPGQPFGQGPGQYPPQNRNMYPPYGPEGEAPPTGANQYGPYGSRPYSQPPPGGPQPPTQTVAGGPPAGGAPGAPPSSAYPTGRPSQQDYYQPPPDQSPQPRRHPDFIKDSQPYPGYNARPQIYGAWQSGTQQYRPQYPSSPAPQNWGGAPPRGAAPPPGAPHGPPIQQPAGVAQWDQHRYPPQQGPPPPPQQQQQPQQQQQQPPYQQVAGPPGQQPPQAPPQWAQMNPGQTAQSGIAPPGSPLRPPSGPGQQNRMPGMPAQQQQSQQQGGVPQPPPQQASHGGVPSPGLPQVGPGGMVKPPYAMPPPPSQGVGQQVGQGPPGGMMSQKPPPMPGQAMQQQPLQQQPPSHQHPHPHQHPQHQHPHQMPPNQTAPGGYGPPGMPGGGAQLVKKELIFPHDSVESTTPVLYRRKRLMKADVCPVDPWRIFMAMRSGLLTECTWALDVLNVLLFDDSTVQFFGISNLPGLLTLLLEHFQKNLAEMFDERENEEQSALLAEDADDDADSGTVMCEKLRTSGRQPRCVRSISSYNRRRHYENMDRSGKDGAGNGSDSEDADEGIDLGQVRVQPNPEERSLLLSFTPNYTMVTRKGVPVRIQPAENDIFVDERQKAWDIDTNRLYEQLEPVGSDAWTYGFTEPDPLDGIIDVFKSEIVNIPFARYIRSDKKGRKRTELASSSRKPEIKTEENSTEEQTFNKKRRLVSGGSSSSGAHAEGKKSKLTSEEFAQPNAEVKKEPGTADSDCRPVDMDIEAPQQRLTNGVAPCSSTPAIFDPRTTAKDEARVLQRRRDSSFEDECYTRDEASLHLVSESQDSLARRCIALSNIFRNLTFVPGNETVLAKSTRFLAVLGRLLLLNHEHLRRTPKTRNYDREEDTDFSDSCSSLQGEREWWWDYLITIRENMLVAMANIAGHLELSRYDELIARPLIDGLLHWAVCPSAHGQDPFPSCGPNSVLSPQRLALEALCKLCVTDANVDLVIATPPFSRLEKLCAVLTRHLCRNEDQVLREFSVNLLHYLAAADSAMARTVALQSPCISYLVAFIEQAEQTALGVANQHGINYLRENPDSMGTSLDMLRRAAGTLLHLAKHPDNRSLFMQQEQRLLGLVMSHILDQQVALIISRVLYQVSRGTGPIHSVEFRLLQQRQQQQLRPGPAGKQAASAGGSATVKAETASTETSSTEAKPAPAATTAVVNDENSNSSQQLPPAATFNDVSNSSTNSNSCGTASSNQTNNSTTNSSHSSSAISSQSAITVAAPSAAATGAGSATAAAIASDQQQVSKVAAAAAAAAALSNASAAAAAAAAAAAASVGPPTSSSVSAGAAVAQPAAPPPTNAGTTTAVA", "length": 2716 }, "evidence": [ { "id": "O14497", "url": "https://omabrowser.org/oma/group/O14497/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "SWI/SNF complex", "id": "GO:0016514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016514", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "brahma complex", "id": "GO:0035060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035060", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "npBAF complex", "id": "GO:0071564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071564", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "nBAF complex", "id": "GO:0071565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071565", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "bBAF complex", "id": "GO:0140092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140092", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 18, "go_terms": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "positive regulation of stem cell population maintenance", "id": "GO:1902459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902459", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "glucocorticoid receptor signaling pathway", "id": "GO:0042921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042921", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "androgen receptor signaling pathway", "id": "GO:0030521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030521", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { "name": "nucleosome disassembly", "id": "GO:0006337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006337", "evidence": [ { "database": "UniProtKB", "id": "O14497", "url": "https://www.uniprot.org/uniprot/O14497" } ], "pmid": "" }, { 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