{ "uniprot_canonical_ac": "Q8NFD5-5", "uniprot_ac": "Q8NFD5", "uniprot_id": "ARI1B_HUMAN", "mass": { "chemical_mass": 243943.0, "monoisotopic_mass": 243943.0 }, "refseq": { "ac": "NP_059989", "name": "AT-rich interactive domain-containing protein 1B isoform 1", "summary": "This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989" }, "gene_names": [ { "name": "ARID1B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8NFD5", "id": "Q8NFD5" }, { "name": "6A3-5; BAF250B; BRIGHT; CSS1; DAN15; ELD/OSA1; MRD12; OSA2; P250R; SMARCF2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989", "id": "NP_059989" }, { "name": "ARID1B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989", "id": "NP_059989" }, { "name": "BAF250B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8NFD5", "id": "Q8NFD5" }, { "name": "DAN15", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8NFD5", "id": "Q8NFD5" }, { "name": "KIAA1235", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8NFD5", "id": "Q8NFD5" }, { "name": "OSA2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8NFD5", "id": "Q8NFD5" } ], "protein_names": [ { "name": "AT-rich interactive domain-containing protein 1B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8NFD5" }, { "name": "ARID domain-containing protein 1B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NFD5" }, { "name": "AT-rich interactive domain-containing protein 1B isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989", "id": "NP_059989" }, { "name": "BAF250B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NFD5" }, { "name": "BRG1-associated factor 250b", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NFD5" }, { "name": "BRG1-binding protein ELD/OSA1; ELD (eyelid)/OSA protein; BRG1-associated factor 250b; ARID domain-containing protein 1B; AT rich interactive domain 1B (SWI1-like)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989", "id": "NP_059989" }, { "name": "BRG1-binding protein hELD/OSA1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NFD5" }, { "name": "Osa homolog 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NFD5" }, { "name": "hOsa2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NFD5" }, { "name": "p250R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NFD5" } ], "function": [ { "annotation": "Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein.", "evidence": [ { "database": "RefSeq", "id": "NP_059989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989" }, { "database": "PubMed", "id": "11988099", "url": "https://glygen.org/publication/PubMed/11988099" } ] }, { "annotation": "Correlation between ARID1B gene mutation (p.A460, p.V215G) and prognosis of high-risk refractory neuroblastoma.", "evidence": [ { "database": "RefSeq", "id": "NP_059989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989" }, { "database": "PubMed", "id": "36883912", "url": "https://glygen.org/publication/PubMed/36883912" } ] }, { "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. 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). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388).", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5#function" }, { "database": "PubMed", "id": "26601204", "url": "https://glygen.org/publication/PubMed/26601204" }, { "database": "UniProtKB", "id": "E9Q4N7", "url": "https://www.uniprot.org/uniprot/E9Q4N7#function" }, { "database": "PubMed", "id": "14982958", "url": "https://glygen.org/publication/PubMed/14982958" }, { "database": "PubMed", "id": "15170388", "url": "https://glygen.org/publication/PubMed/15170388" }, { "database": "PubMed", "id": "22952240", "url": "https://glygen.org/publication/PubMed/22952240" }, { "database": "PubMed", "id": "12672490", "url": "https://glygen.org/publication/PubMed/12672490" } ] }, { "annotation": "Paraspeckles interact with SWI/SNF subunit ARID1B to regulate transcription and splicing.", "evidence": [ { "database": "RefSeq", "id": "NP_059989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989" }, { "database": "PubMed", "id": "36354291", "url": "https://glygen.org/publication/PubMed/36354291" } ] }, { "annotation": "This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_059989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989" } ] }, { "annotation": "Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients.", "evidence": [ { "database": "RefSeq", "id": "NP_059989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989" }, { "database": "PubMed", "id": "36352633", "url": "https://glygen.org/publication/PubMed/36352633" } ] } ], "disease": [ { "disease_id": "DOID:0070042", "recommended_name": { "id": "DOID:0070042", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070042", "name": "Coffin-Siris syndrome 1", "description": "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3." }, "synonyms": [ { "id": "DOID:0070042", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070042", "name": "CSS1", "description": "" }, { "id": "DOID:0070042", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070042", "name": "MRD12", "description": "" }, { "id": "DOID:0070042", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070042", "name": "autosomal dominant mental retardation 12", "description": "" }, { "id": "DOID:0070042", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070042", "name": "fifth digit syndrome", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "Coffin-Siris syndrome 1", "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene." }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "fifth digit syndrome", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "ARID1B-related BAFopathy", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "COFFIN-SIRIS syndrome 1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "CSS1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "Coffin-Siris syndrome 1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "MRD12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "autosomal dominant mental retardation 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "intellectual disability, autosomal dominant 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "mental retardation, autosomal dominant type 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "COFFIN-SIRIS syndrome", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "CSS", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "mental retardation, autosomal dominant 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "Coffin-Siris syndrome 1", "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene." }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "fifth digit syndrome", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "ARID1B-related BAFopathy", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "COFFIN-SIRIS syndrome 1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "CSS1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "Coffin-Siris syndrome 1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "MRD12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "autosomal dominant mental retardation 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "intellectual disability, autosomal dominant 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "mental retardation, autosomal dominant type 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "COFFIN-SIRIS syndrome", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "CSS", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "mental retardation, autosomal dominant 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "Coffin-Siris syndrome 1", "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene." }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "fifth digit syndrome", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "ARID1B-related BAFopathy", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "COFFIN-SIRIS syndrome 1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "CSS1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "Coffin-Siris syndrome 1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "MRD12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "autosomal dominant mental retardation 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "intellectual disability, autosomal dominant 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "mental retardation, autosomal dominant type 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "COFFIN-SIRIS syndrome", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "CSS", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "mental retardation, autosomal dominant 12", "description": "" }, { "id": "MIM:135900", "resource": "MIM", "url": "https://www.omim.org/entry/135900", "name": "Coffin-Siris syndrome 1", "description": "Coffin-Siris syndrome 1" } ], "evidence": [ { "id": "135900", "database": "MIM", "url": "https://www.omim.org/entry/135900" } ] }, { "disease_id": "DOID:1925", "recommended_name": { "id": "DOID:1925", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1925", "name": "Coffin-Siris syndrome", "description": "An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails." }, "synonyms": [ { "id": "DOID:1925", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1925", "name": "Dwarfism-Onychodysplasia", "description": "" }, { "id": "DOID:1925", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1925", "name": "Fifth Digit Syndrome", "description": "" }, { "id": "DOID:1925", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1925", "name": "Short Stature-Onychodysplasia.", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "Coffin-Siris syndrome 1", "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene." }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "fifth digit syndrome", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "ARID1B-related BAFopathy", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "COFFIN-SIRIS syndrome 1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "CSS1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "Coffin-Siris syndrome 1", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "MRD12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "autosomal dominant mental retardation 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "intellectual disability, autosomal dominant 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "mental retardation, autosomal dominant type 12", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "COFFIN-SIRIS syndrome", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "CSS", "description": "" }, { "id": "MONDO:0007617", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007617", "name": "mental retardation, autosomal dominant 12", "description": "" }, { "id": "MIM:135900", "resource": "MIM", "url": "https://www.omim.org/entry/135900", "name": "Coffin-Siris syndrome 1", "description": "Coffin-Siris syndrome 1" } ], "evidence": [ { "id": "135900", "database": "MIM", "url": "https://www.omim.org/entry/135900" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000049618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000049618" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000049618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000049618" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "90.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000049618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000049618" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "86.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000049618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000049618" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000049618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000049618" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000049618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000049618" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000049618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000049618" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000049618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000049618" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000049618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000049618" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000049618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000049618" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "Q8NFD5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8NFD5" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "common_name": "Human" } ], "gene": [ { "name": "ARID1B", "url": "https://www.uniprot.org/uniprot/Q8NFD5", "locus": { "chromosome": "6", "start_pos": 157210779, "end_pos": 156776020, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000049618", "url": "https://www.ensembl.org/id/ENSG00000049618" } ] } } ], "crossref": [ { "id": "ENSG00000049618", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000049618", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd16877", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16877", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ARID1B", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID1B", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "57492", "url": "https://www.ncbi.nlm.nih.gov/gene/57492", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "18040", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18040", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q8NFD5", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q8NFD5*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001606", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001606", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR021906", "url": "https://www.ebi.ac.uk/interpro/entry/IPR021906", "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": "IPR038040", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038040", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:57492", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57492", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "135900", "url": "http://www.omim.org/entry/135900", "database": "MIM", "categories": [ "Other" ] }, { "id": "614556", "url": "http://www.omim.org/entry/614556", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q8NFD5", "url": "https://www.nextprot.org/entry/NX_Q8NFD5", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "AHLPITR", "url": "https://omabrowser.org/oma/group/AHLPITR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "PTHR12656", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12656", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12656:SF11", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12656:SF11", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2CXY", "url": "https://www.rcsb.org/structure/2CXY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2EH9", "url": "https://www.rcsb.org/structure/2EH9", "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": "Q8NFD5", "url": "https://pharos.nih.gov/targets/Q8NFD5", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q8NFD5", "url": "http://purl.obolibrary.org/obo/PR_Q8NFD5", "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_059989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8NFD5-1", "url": "https://www.uniprot.org/uniprot/Q8NFD5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8NFD5-2", "url": "https://www.uniprot.org/uniprot/Q8NFD5-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8NFD5-3", "url": "https://www.uniprot.org/uniprot/Q8NFD5-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8NFD5-5", "url": "https://www.uniprot.org/uniprot/Q8NFD5-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAARAAAAAAAAAARARARAGSGERRAPPGPRPAPGARDLEAGARGAAAAAAAPGPMLGGGGDGGGGLNSVHHHPLLPRHELNMAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNYSRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQAPPYSMAPAMVNSSAASVGLADMMSPGESKLPLPLKADGKEEGTPQPESKSKKSSSSTTTGEKITKVYELGNEPERKLWVDRYLTFMEERGSPVSSLPAVGKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQYLFAFECKIERGEEPPPEVFSTGDTKKQPKLQPPSPANSGSLQGPQTPQSTGSNSMAEVPGDLKPPTPASTPHGQMTPMQGGRSSTISVHDPFSDVSDSSFPKRNSMTPNAPYQQGMSMPDVMGRMPYEPNKDPFGGMRKVPGSSEPFMTQGQMPNSSMQDMYNQSPSGAMSNLGMGQRQQFPYGASYDRRHEPYGQQYPGQGPPSGQPPYGGHQPGLYPQQPNYKRHMDGMYGPPAKRHEGDMYNMQYSSQQQEMYNQYGGSYSGPDRRPIQGQYPYPYSRERMQGPGQIQTHGIPPQMMGGPLQSSSSEGPQQNMWAARNDMPYPYQNRQGPGGPTQAPPYPGMNRTDDMMVPDQRINHESQWPSHVSQRQPYMSSSASMQPITRPPQPSYQTPPSLPNHISRAPSPASFQRSLENRMSPSKSPFLPSMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPPGSVEASQPVLKQRRKITSKDIVTPEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLIDIFGILMEYEVGDPSQKALDHNAARKDDSQSLADDSGKEEEDAECIDDDEEDEEDEEEDSEKTESDEKSSIALTAPDAAADPKEKPKQASKFDKLPIKIVKKNNLFVVDRSDKLGRVQEFNSGLLHWQLGGGDTTEHIQTHFESKMEIPPRRRPPPPLSSAGRKKEQEGKGDSEEQQEKSIIATIDDVLSARPGALPEDANPGPQTESSKFPFGIQQAKSHRNIKLLEDEPRSRDETPLCTIAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPGLVLILGKLILLHHEHPERKRAPQTYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLANISGQLDLSAYTESICLPILDGLLHWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLSIQDNNVDLILATPPFSRQEKFYATLVRYVGDRKNPVCREMSMALLSNLAQGDALAARAIAVQKGSIGNLISFLEDGVTMAQYQQSQHNLMHMQPPPLEPPSVDMMCRAAKALLAMARVDENRSEFLLHEGRLLDISISAVLNSLVASVICDVLFQIGQL", "length": 2319, "header": "sp|Q8NFD5-5|ARI1B_HUMAN Isoform 5 of AT-rich interactive domain-containing protein 1B OS=Homo sapiens OX=9606 GN=ARID1B PE=1 SV=3 CANONICAL=Q8NFD5-5" }, "isoforms": [ { "isoform_ac": "Q8NFD5-1", "url": "", "sequence": { "sequence": "MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNYSRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQAPPYSMAPAMVNSSAASVGLADMMSPGESKLPLPLKADGKEEGTPQPESKSKKSSSSTTTGEKITKVYELGNEPERKLWVDRYLTFMEERGSPVSSLPAVGKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQYLFAFECKIERGEEPPPEVFSTGDTKKQPKLQPPSPANSGSLQGPQTPQSTGSNSMAEVPGDLKPPTPASTPHGQMTPMQGGRSSTISVHDPFSDVSDSSFPKRNSMTPNAPYQQGMSMPDVMGRMPYEPNKDPFGGMRKVPGSSEPFMTQGQMPNSSMQDMYNQSPSGAMSNLGMGQRQQFPYGASYDRRHEPYGQQYPGQGPPSGQPPYGGHQPGLYPQQPNYKRHMDGMYGPPAKRHEGDMYNMQYSSQQQEMYNQYGGSYSGPDRRPIQGQYPYPYSRERMQGPGQIQTHGIPPQMMGGPLQSSSSEGPQQNMWAARNDMPYPYQNRQGPGGPTQAPPYPGMNRTDDMMVPDQRINHESQWPSHVSQRQPYMSSSASMQPITRPPQPSYQTPPSLPNHISRAPSPASFQRSLENRMSPSKSPFLPSMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPPGSVEASQPVLKQRRKITSKDIVTPEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLIDIFGILMEYEVGDPSQKALDHNAARKDDSQSLADDSGKEEEDAECIDDDEEDEEDEEEDSEKTESDEKSSIALTAPDAAADPKEKPKQASKFDKLPIKIVKKNNLFVVDRSDKLGRVQEFNSGLLHWQLGGGDTTEHIQTHFESKMEIPPRRRPPPPLSSAGRKKEQEGKGDSEEQQEKSIIATIDDVLSARPGALPEDANPGPQTESSKFPFGIQQAKSHRNIKLLEDEPRSRDETPLCTIAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPGLVLILGKLILLHHEHPERKRAPQTYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLANISGQLDLSAYTESICLPILDGLLHWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLSIQDNNVDLILATPPFSRQEKFYATLVRYVGDRKNPVCREMSMALLSNLAQGDALAARAIAVQKGSIGNLISFLEDGVTMAQYQQSQHNLMHMQPPPLEPPSVDMMCRAAKALLAMARVDENRSEFLLHEGRLLDISISAVLNSLVASVICDVLFQIGQL", "length": 2236, "header": "sp|Q8NFD5-1|ARI1B_HUMAN Isoform 1 of AT-rich interactive domain-containing protein 1B OS=Homo sapiens OX=9606 GN=ARID1B PE=1 SV=3 CANONICAL=Q8NFD5-5" }, "locus": { "chromosome": "6", "start_pos": 157207888, "end_pos": 156777930, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000350026.10", "url": "https://www.ensembl.org/id/ENST00000350026.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000055163.7", "url": "https://www.ensembl.org/id/ENSP00000055163.7" } ] } }, { "isoform_ac": "Q8NFD5-2", "url": "", "sequence": { "sequence": "MAARAAAAAAAAAARARARAGSGERRAPPGPRPAPGARDLEAGARGAAAAAAAPGPMLGGGGDGGGGLNSVHHHPLLPRHELNMAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDSGDATWKETFWLMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNYSRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQAPPYSMAPAMVNSSAASVGLADMMSPGESKLPLPLKADGKEEGTPQPESKSKKSSSSTTTGEKITKVYELGNEPERKLWVDRYLTFMEERGSPVSSLPAVGKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQYLFAFECKIERGEEPPPEVFSTGDTKKQPKLQPPSPANSGSLQGPQTPQSTGSNSMAEVPGDLKPPTPASTPHGQMTPMQGGRSSTISVHDPFSDVSDSSFPKRNSMTPNAPYQQGMSMPDVMGRMPYEPNKDPFGGMRKVPGSSEPFMTQGQMPNSSMQDMYNQSPSGAMSNLGMGQRQQFPYGASYDRRHEPYGQQYPGQGPPSGQPPYGGHQPGLYPQQPNYKRHMDGMYGPPAKRHEGDMYNMQYSSQQQEMYNQYGGSYSGPDRRPIQGQYPYPYSRERMQGPGQIQTHGIPPQMMGGPLQSSSSEGPQQNMWAARNDMPYPYQNRQGPGGPTQAPPYPGMNRTDDMMVPDQRINHESQWPSHVSQRQPYMSSSASMQPITRPPQPSYQTPPSLPNHISRAPSPASFQRSLENRMSPSKSPFLPSMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPPGSVEASQPVLKQRRKITSKDIVTPEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLIDIFGILMEYEVGDPSQKALDHNAARKDDSQSLADDSGKEEEDAECIDDDEEDEEDEEEDSEKTESDEKSSIALTAPDAAADPKEKPKQASKFDKLPIKIVKKNNLFVVDRSDKLGRVQEFNSGLLHWQLGGGDTTEHIQTHFESKMEIPPRRRPPPPLSSAGRKKEQEGKGDSEEQQEKSIIATIDDVLSARPGALPEDANPGPQTESSKFPFGIQQAKSHRNIKLLEDEPRSRDETPLCTIAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPGLVLILGKLILLHHEHPERKRAPQTYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLANISGQLDLSAYTESICLPILDGLLHWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLSIQDNNVDLILATPPFSRQEKFYATLVRYVGDRKNPVCREMSMALLSNLAQGDALAARAIAVQKGSIGNLISFLEDGVTMAQYQQSQHNLMHMQPPPLEPPSVDMMCRAAKALLAMARVDENRSEFLLHEGRLLDISISAVLNSLVASVICDVLFQIGQL", "length": 2332, "header": "sp|Q8NFD5-2|ARI1B_HUMAN Isoform 2 of AT-rich interactive domain-containing protein 1B OS=Homo sapiens OX=9606 GN=ARID1B PE=1 SV=3 CANONICAL=Q8NFD5-5" }, "locus": { "chromosome": "6", "start_pos": 157207888, "end_pos": 156777681, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000346085.10", "url": "https://www.ensembl.org/id/ENST00000346085.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000344546.5", "url": "https://www.ensembl.org/id/ENSP00000344546.5" } ] } }, { "isoform_ac": "Q8NFD5-3", "url": "", "sequence": { "sequence": "MAARAAAAAAAAAARARARAGSGERRAPPGPRPAPGARDLEAGARGAAAAAAAPGPMLGGGGDGGGGLNSVHHHPLLPRHELNMAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNYSRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQAPPYSMAPAMVNSSAASVGLADMMSPGESKLPLPLKADGKEEGTPQPESKSKDSYSSQGISQPPTPGNLPVPSPMSPSSASISSFHGDESDSISSPGWPKTPSSPKSSSSTTTGEKITKVYELGNEPERKLWVDRYLTFMEERGSPVSSLPAVGKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQYLFAFECKIERGEEPPPEVFSTGDTKKQPKLQPPSPANSGSLQGPQTPQSTGSNSMAEVPGDLKPPTPASTPHGQMTPMQGGRSSTISVHDPFSDVSDSSFPKRNSMTPNAPYQQGMSMPDVMGRMPYEPNKDPFGGMRKVPGSSEPFMTQGQMPNSSMQDMYNQSPSGAMSNLGMGQRQQFPYGASYDRRHEPYGQQYPGQGPPSGQPPYGGHQPGLYPQQPNYKRHMDGMYGPPAKRHEGDMYNMQYSSQQQEMYNQYGGSYSGPDRRPIQGQYPYPYSRERMQGPGQIQTHGIPPQMMGGPLQSSSSEGPQQNMWAARNDMPYPYQNRQGPGGPTQAPPYPGMNRTDDMMVPDQRINHESQWPSHVSQRQPYMSSSASMQPITRPPQPSYQTPPSLPNHISRAPSPASFQRSLENRMSPSKSPFLPSMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPPGSVEASQPVLKQRRKITSKDIVTPEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLIDIFGILMEYEVGDPSQKALDHNAARKDDSQSLADDSGKEEEDAECIDDDEEDEEDEEEDSEKTESDEKSSIALTAPDAAADPKEKPKQASKFDKLPIKIVKKNNLFVVDRSDKLGRVQEFNSGLLHWQLGGGDTTEHIQTHFESKMEIPPRRRPPPPLSSAGRKKEQEGKGDSEEQQEKSIIATIDDVLSARPGALPEDANPGPQTESSKFPFGIQQAKSHRNIKLLEDEPRSRDETPLCTIAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPGLVLILGKLILLHHEHPERKRAPQTYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLANISGQLDLSAYTESICLPILDGLLHWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLSIQDNNVDLILATPPFSRQEKFYATLVRYVGDRKNPVCREMSMALLSNLAQGDALAARAIAVQKGSIGNLISFLEDGVTMAQYQQSQHNLMHMQPPPLEPPSVDMMCRAAKALLAMARVDENRSEFLLHEGRLLDISISAVLNSLVASVICDVLFQIGQL", "length": 2372, "header": "sp|Q8NFD5-3|ARI1B_HUMAN Isoform 3 of AT-rich interactive domain-containing protein 1B OS=Homo sapiens OX=9606 GN=ARID1B PE=1 SV=3 CANONICAL=Q8NFD5-5" }, "locus": { "chromosome": "6", "start_pos": 157207888, "end_pos": 156777681, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636930.2", "url": "https://www.ensembl.org/id/ENST00000636930.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000490491.2", "url": "https://www.ensembl.org/id/ENSP00000490491.2" } ] } }, { "isoform_ac": "Q8NFD5-5", "url": "", "sequence": { "sequence": "MAARAAAAAAAAAARARARAGSGERRAPPGPRPAPGARDLEAGARGAAAAAAAPGPMLGGGGDGGGGLNSVHHHPLLPRHELNMAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNYSRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQAPPYSMAPAMVNSSAASVGLADMMSPGESKLPLPLKADGKEEGTPQPESKSKKSSSSTTTGEKITKVYELGNEPERKLWVDRYLTFMEERGSPVSSLPAVGKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQYLFAFECKIERGEEPPPEVFSTGDTKKQPKLQPPSPANSGSLQGPQTPQSTGSNSMAEVPGDLKPPTPASTPHGQMTPMQGGRSSTISVHDPFSDVSDSSFPKRNSMTPNAPYQQGMSMPDVMGRMPYEPNKDPFGGMRKVPGSSEPFMTQGQMPNSSMQDMYNQSPSGAMSNLGMGQRQQFPYGASYDRRHEPYGQQYPGQGPPSGQPPYGGHQPGLYPQQPNYKRHMDGMYGPPAKRHEGDMYNMQYSSQQQEMYNQYGGSYSGPDRRPIQGQYPYPYSRERMQGPGQIQTHGIPPQMMGGPLQSSSSEGPQQNMWAARNDMPYPYQNRQGPGGPTQAPPYPGMNRTDDMMVPDQRINHESQWPSHVSQRQPYMSSSASMQPITRPPQPSYQTPPSLPNHISRAPSPASFQRSLENRMSPSKSPFLPSMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPPGSVEASQPVLKQRRKITSKDIVTPEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLIDIFGILMEYEVGDPSQKALDHNAARKDDSQSLADDSGKEEEDAECIDDDEEDEEDEEEDSEKTESDEKSSIALTAPDAAADPKEKPKQASKFDKLPIKIVKKNNLFVVDRSDKLGRVQEFNSGLLHWQLGGGDTTEHIQTHFESKMEIPPRRRPPPPLSSAGRKKEQEGKGDSEEQQEKSIIATIDDVLSARPGALPEDANPGPQTESSKFPFGIQQAKSHRNIKLLEDEPRSRDETPLCTIAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPGLVLILGKLILLHHEHPERKRAPQTYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLANISGQLDLSAYTESICLPILDGLLHWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLSIQDNNVDLILATPPFSRQEKFYATLVRYVGDRKNPVCREMSMALLSNLAQGDALAARAIAVQKGSIGNLISFLEDGVTMAQYQQSQHNLMHMQPPPLEPPSVDMMCRAAKALLAMARVDENRSEFLLHEGRLLDISISAVLNSLVASVICDVLFQIGQL", "length": 2319, "header": "sp|Q8NFD5-5|ARI1B_HUMAN Isoform 5 of AT-rich interactive domain-containing protein 1B OS=Homo sapiens OX=9606 GN=ARID1B PE=1 SV=3 CANONICAL=Q8NFD5-5" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 1625, "end_pos": 1625, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser1625" }, { "start_pos": 1638, "end_pos": 1638, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ], "site_lbl": "Ser1638" }, { "start_pos": 1642, "end_pos": 1642, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser1642" }, { "start_pos": 1715, "end_pos": 1715, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" }, { "database": "iPTMnet", "id": "Q8NFD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NFD5" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ], "site_lbl": "Ser1715" }, { "start_pos": 1798, "end_pos": 1798, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ], "site_lbl": "Ser1798" }, { "start_pos": 585, "end_pos": 585, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser585" }, { "start_pos": 599, "end_pos": 599, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ], "site_lbl": "Ser599" } ], "glycation": [], "keywords": [], "publication": [ { "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. Biol. Chem.", "date": "2002", "authors": "Sugano S., Zhang W., Kato H., Chait B.T., Krutchinsky A.N., Roeder R.G., Takeuchi T., de Bruijn D.R., An W., Ohtsuki Y., Tjernberg A.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "11734557", "url": "https://glygen.org/publication/PubMed/11734557" } ] }, { "title": "Hormone-dependent, CARM1-directed, arginine-specific methylation of histone H3 on a steroid-regulated promoter.", "journal": "Current biology : CB", "date": "2001", "authors": "Ma H, Baumann CT, Li H, Strahl BD, Rice R, Jelinek MA, Aswad DW, Allis CD, Hager GL, Stallcup MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "11747826", "url": "https://glygen.org/publication/PubMed/11747826" } ] }, { "title": "Methylation at arginine 17 of histone H3 is linked to gene activation.", "journal": "EMBO reports", "date": "2002", "authors": "Bauer UM, Daujat S, Nielsen SJ, Nightingale K, Kouzarides T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "11751582", "url": "https://glygen.org/publication/PubMed/11751582" } ] }, { "title": "A novel WD repeat protein component of the methylosome binds Sm proteins.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Friesen WJ, Wyce A, Paushkin S, Abel L, Rappsilber J, Mann M, Dreyfuss G", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "11756452", "url": "https://glygen.org/publication/PubMed/11756452" } ] }, { "title": "Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein.", "journal": "Biochem. J.", "date": "2002", "authors": "Hurlstone AF, Olave IA, Barker N, van Noort M, Clevers H", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" }, { "database": "RefSeq", "id": "NP_059989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989" } ], "reference": [ { "type": "PubMed", "id": "11988099", "url": "https://glygen.org/publication/PubMed/11988099" } ] }, { "title": "Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Inoue H., Zhou S., Tanese N., Furukawa T., Giannakopoulos S., King D.S.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "12200431", "url": "https://glygen.org/publication/PubMed/12200431" } ] }, { "title": "Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner.", "journal": "Mol. Cell. Biol.", "date": "2003", "authors": "Cleary M.L., Nie Z., Wang W., Xue Y., Zhou S., Yang D., Chen E.H., Kanakubo E., Ling C., Murray D., Sechi S., Yan Z.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "12665591", "url": "https://glygen.org/publication/PubMed/12665591" } ] }, { "title": "Recent advances in understanding chromatin remodeling by SWI/SNF complexes.", "journal": "Curr. Opin. Genet. Dev.", "date": "2003", "authors": "Martens JA, Winston F", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "12672490", "url": "https://glygen.org/publication/PubMed/12672490" } ] }, { "title": "The DNA-binding properties of the ARID-containing subunits of yeast and mammalian SWI/SNF complexes.", "journal": "Nucleic Acids Res.", "date": "2004", "authors": "Chen Y., Kim S., Dallas P.B., Moran E., Patsialou A., Wilsker D., Zumbrun S.D.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "14982958", "url": "https://glygen.org/publication/PubMed/14982958" } ] }, { "title": "Two related ARID family proteins are alternative subunits of human SWI/SNF complexes.", "journal": "Biochem. J.", "date": "2004", "authors": "Wang X., Dallas P.B., Moran E., Nagl N.G., Pacchione S., Van Scoy M., Wilsker D., Yaciuk P.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "15170388", "url": "https://glygen.org/publication/PubMed/15170388" } ] }, { "title": "Human SWI/SNF-associated PRMT5 methylates histone H3 arginine 8 and negatively regulates expression of ST7 and NM23 tumor suppressor genes.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Pal S, Vishwanath SN, Erdjument-Bromage H, Tempst P, Sif S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "15485929", "url": "https://glygen.org/publication/PubMed/15485929" } ] }, { "title": "Roles of HIPK1 and HIPK2 in AML1- and p300-dependent transcription, hematopoiesis and blood vessel formation.", "journal": "The EMBO journal", "date": "2006", "authors": "Aikawa Y, Nguyen LA, Isono K, Takakura N, Tagata Y, Schmitz ML, Koseki H, Kitabayashi I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8939243", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939243" } ], "reference": [ { "type": "PubMed", "id": "16917507", "url": "https://glygen.org/publication/PubMed/16917507" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Histone arginine methylation regulates pluripotency in the early mouse embryo.", "journal": "Nature", "date": "2007", "authors": "Torres-Padilla ME, Parfitt DE, Kouzarides T, Zernicka-Goetz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "17215844", "url": "https://glygen.org/publication/PubMed/17215844" } ] }, { "title": "Methylation of histone H3R2 by PRMT6 and H3K4 by an MLL complex are mutually exclusive.", "journal": "Nature", "date": "2007", "authors": "Guccione E, Bassi C, Casadio F, Martinato F, Cesaroni M, Schuchlautz H, Luscher B, Amati B", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "17898714", "url": "https://glygen.org/publication/PubMed/17898714" } ] }, { "title": "PRMT6-mediated methylation of R2 in histone H3 antagonizes H3 K4 trimethylation.", "journal": "Genes & development", "date": "2007", "authors": "Hyllus D, Stein C, Schnabel K, Schiltz E, Imhof A, Dou Y, Hsieh J, Bauer UM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "18079182", "url": "https://glygen.org/publication/PubMed/18079182" } ] }, { "title": "The histone-binding protein COPR5 is required for nuclear functions of the protein arginine methyltransferase PRMT5.", "journal": "EMBO reports", "date": "2008", "authors": "Lacroix M, El Messaoudi S, Rodier G, Le Cam A, Sardet C, Fabbrizio E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "18404153", "url": "https://glygen.org/publication/PubMed/18404153" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "PEBP2-beta/CBF-beta-dependent phosphorylation of RUNX1 and p300 by HIPK2: implications for leukemogenesis.", "journal": "Blood", "date": "2008", "authors": "Wee HJ, Voon DC, Bae SC, Ito Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8939243", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939243" } ], "reference": [ { "type": "PubMed", "id": "18695000", "url": "https://glygen.org/publication/PubMed/18695000" } ] }, { "title": "Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex.", "journal": "Genes Dev.", "date": "2008", "authors": "Lange M, Kaynak B, Forster UB, Tonjes M, Fischer JJ, Grimm C, Schlesinger J, Just S, Dunkel I, Krueger T, Mebus S, Lehrach H, Lurz R, Gobom J, Rottbauer W, Abdelilah-Seyfried S, Sperling S", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "18765789", "url": "https://glygen.org/publication/PubMed/18765789" } ] }, { "title": "PRMT5-mediated methylation of histone H4R3 recruits DNMT3A, coupling histone and DNA methylation in gene silencing.", "journal": "Nature structural & molecular biology", "date": "2009", "authors": "Zhao Q, Rank G, Tan YT, Li H, Moritz RL, Simpson RJ, Cerruti L, Curtis DJ, Patel DJ, Allis CD, Cunningham JM, Jane SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "19234465", "url": "https://glygen.org/publication/PubMed/19234465" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "The human SWI/SNF complex associates with RUNX1 to control transcription of hematopoietic target genes.", "journal": "Journal of cellular physiology", "date": "2010", "authors": "Bakshi R, Hassan MQ, Pratap J, Lian JB, Montecino MA, van Wijnen AJ, Stein JL, Imbalzano AN, Stein GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8939243", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939243" } ], "reference": [ { "type": "PubMed", "id": "20506188", "url": "https://glygen.org/publication/PubMed/20506188" } ] }, { "title": "Nuclear cyclin D1/CDK4 kinase regulates CUL4 expression and triggers neoplastic growth via activation of the PRMT5 methyltransferase.", "journal": "Cancer cell", "date": "2010", "authors": "Aggarwal P, Vaites LP, Kim JK, Mellert H, Gurung B, Nakagawa H, Herlyn M, Hua X, Rustgi AK, McMahon SB, Diehl JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "20951943", "url": "https://glygen.org/publication/PubMed/20951943" } ] }, { "title": "JAK2V617F-mediated phosphorylation of PRMT5 downregulates its methyltransferase activity and promotes myeloproliferation.", "journal": "Cancer cell", "date": "2011", "authors": "Liu F, Zhao X, Perna F, Wang L, Koppikar P, Abdel-Wahab O, Harr MW, Levine RL, Xu H, Tefferi A, Deblasio A, Hatlen M, Menendez S, Nimer SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "21316606", "url": "https://glygen.org/publication/PubMed/21316606" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" }, { "database": "iPTMnet", "id": "Q8NFD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Methylation of H2AR29 is a novel repressive PRMT6 target.", "journal": "Epigenetics & chromatin", "date": "2011", "authors": "Waldmann T, Izzo A, Kamieniarz K, Richter F, Vogler C, Sarg B, Lindner H, Young NL, Mittler G, Garcia BA, Schneider R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "21774791", "url": "https://glygen.org/publication/PubMed/21774791" } ] }, { "title": "Symmetric dimethylation of H3R2 is a newly identified histone mark that supports euchromatin maintenance.", "journal": "Nature structural & molecular biology", "date": "2012", "authors": "Migliori V, Muller J, Phalke S, Low D, Bezzi M, Mok WC, Sahu SK, Gunaratne J, Capasso P, Bassi C, Cecatiello V, De Marco A, Blackstock W, Kuznetsov V, Amati B, Mapelli M, Guccione E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "22231400", "url": "https://glygen.org/publication/PubMed/22231400" } ] }, { "title": "Direct recruitment of polycomb repressive complex 1 to chromatin by core binding transcription factors.", "journal": "Molecular cell", "date": "2012", "authors": "Yu M, Mazor T, Huang H, Huang HT, Kathrein KL, Woo AJ, Chouinard CR, Labadorf A, Akie TE, Moran TB, Xie H, Zacharek S, Taniuchi I, Roeder RG, Kim CF, Zon LI, Fraenkel E, Cantor AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-8939243", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939243" } ], "reference": [ { "type": "PubMed", "id": "22325351", "url": "https://glygen.org/publication/PubMed/22325351" } ] }, { "title": "Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.", "journal": "Am. J. Hum. Genet.", "date": "2012", "authors": "Engels H., Wieczorek D., Rappold G., Riess O., Endele S., Reis A., Dufke A., Ekici A.B., Gohring I., Hoyer J., Petsch C., Popp B., Rauch A., Rossier E., Schrock E., Wiesener A., Wohlleber E., Zink A.M., Zweier C., Zweier M.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "22405089", "url": "https://glygen.org/publication/PubMed/22405089" } ] }, { "title": "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.", "journal": "Nat. Genet.", "date": "2012", "authors": "Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "22426308", "url": "https://glygen.org/publication/PubMed/22426308" } ] }, { "title": "Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.", "journal": "Nat. Genet.", "date": "2012", "authors": "Sun Y., Gilissen C., Nielsen M., Kant S.G., Ruivenkamp C.A., Santen G.W., den Dunnen J.T., Almomani R., Wessels M.W., Aten E., Breuning M.H., Hilhorst-Hofstee Y., Kriek M., Peeters E.A., Snoeck I.N., den Hollander N.S., van Haeringen A., van Ommen G.J.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "22426309", "url": "https://glygen.org/publication/PubMed/22426309" } ] }, { "title": "SWI/SNF chromatin-remodeling factors: multiscale analyses and diverse functions.", "journal": "J. Biol. Chem.", "date": "2012", "authors": "Auerbach R.K., Euskirchen G., Snyder M.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "22952240", "url": "https://glygen.org/publication/PubMed/22952240" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Mol. Cell. Proteomics", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.", "journal": "BMC Genomics", "date": "2015", "authors": "Yu Y, Yao R, Wang L, Fan Y, Huang X, Hirschhorn J, Dauber A, Shen Y", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "26376624", "url": "https://glygen.org/publication/PubMed/26376624" } ] }, { "title": "Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics.", "journal": "Sci. Adv.", "date": "2015", "authors": "Crabtree G.R., Kadoch C.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "26601204", "url": "https://glygen.org/publication/PubMed/26601204" } ] }, { "title": "Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.", "journal": "Neuron", "date": "2015", "authors": "D'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AN, Sestan N, Walsh CA", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "26637798", "url": "https://glygen.org/publication/PubMed/26637798" } ] }, { "title": "Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients.", "journal": "Neurology India", "date": "2022", "authors": "Tan Yuxia, Chen Jun, Li Yutang, Liu Yedan, Wang Yu, Xia Shungang, Chen Liping, Wei Wei, Chen Zongbo", "evidence": [ { "database": "RefSeq", "id": "NP_059989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989" } ], "reference": [ { "type": "PubMed", "id": "36352633", "url": "https://glygen.org/publication/PubMed/36352633" } ] }, { "title": "Paraspeckles interact with SWI/SNF subunit ARID1B to regulate transcription and splicing.", "journal": "EMBO reports", "date": "2023-01-09", "authors": "Reddy Divya, Bhattacharya Saikat, Levy Michaella, Zhang Ying, Gogol Madelaine, Li Hua, Florens Laurence, Workman Jerry L", "evidence": [ { "database": "RefSeq", "id": "NP_059989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989" } ], "reference": [ { "type": "PubMed", "id": "36354291", "url": "https://glygen.org/publication/PubMed/36354291" } ] }, { "title": "Correlation between ARID1B gene mutation (p.A460, p.V215G) and prognosis of high-risk refractory neuroblastoma.", "journal": "Cell biology international", "date": "2023-03-08", "authors": "Zhang Yi, Chen Moyi, Huang Dongsheng, Gu Huali, Yi You, Meng Xue", "evidence": [ { "database": "RefSeq", "id": "NP_059989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059989" } ], "reference": [ { "type": "PubMed", "id": "36883912", "url": "https://glygen.org/publication/PubMed/36883912" } ] }, { "title": "Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.", "journal": "Nat. Genet.", "date": "1996", "authors": "Agid Y., Brice A., Mandel J.-L., Stevanin G., Weber C., Garnier J.-M., Duerr A., Abbas N., Cancel G., Devys D., Didierjean O., Imbert G., Saudou F., Trottier Y., Yvert G.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "8896557", "url": "https://glygen.org/publication/PubMed/8896557" } ] }, { "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" } ] }, { "title": "New 5'-(CGG)-3' repeats in the human genome.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Schmitz B., Doerfler W., Mangel L., Ternes T.", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "reference": [ { "type": "PubMed", "id": "9804814", "url": "https://glygen.org/publication/PubMed/9804814" } ] } ], "pathway": [ { "id": "hsa:57492", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57492", "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": "E9Q4N7-1", "protein_name": "AT-rich interactive domain-containing protein 1B", "gene_name": "Arid1b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAARAAAAARARAGSGERRAPSGPRPAPGARDLETGARGAVAAPGPILGGGDGGLNNVHHHPLHPRHDLNMAHSASAAAAASSNSAQSGRSEAALKEGGSAAALSSSAAVAASSSSAGPGSTMETGLLPNHKLKAVGEAPAAPPHQQHHHHHAHHHHHHHAHHLHHLHHHHALQQQLNQFQQPQPPQPQQQQPPPPPQQQHPTANNSLGGAGGGAPQPGPDMEQPQHGGAKDSVAGNQADPQGQPLLSKPGDEDDAPPKMGEPAGSRYEHPGLGAQQQPAPVAVPGGGGGPAAVSEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAGAPSSMDPLQNSHEGYPNSQYNHYPGYSRPGAGGGGGGGGGGGGSGGGGGGGGAGGAGGAAAAAAGAGAVAAAAAAAAAAAAAAGGGGGGGYGSSSSGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGAAAAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPDYSSSSAPPPPSQPQSQAAAGAAAGGQQAAAGMGLGKDLGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGTHPHSQPQQSSPYPGGSYGPPGAQRYPLGMQGRAPGALGGLQYPQQQMPPQYGQQAVSGYCQQGQQPYYNQQPQPSHLPPQAQYLQPAAAQSQQRYQPQQDMSQEGYGTRSQPPLAPGKSNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGNYSRTPTYSGVPSASYSGPGPGMGINANNQMHGQGPAQPCGAMPLGRMPSAGMQNRPFPGTMSSVTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLVASSSPYSQSMNNNSSLMSTQAQPYSMTPTMVNSSTASMGLADMMSPSESKLSVPLKADGKEEGVSQPESKSKDSYGSQGISQPPTPGNLPVPSPMSPSSASISSFHGDESDSISSPGWPKTPSSPKSSSSSTTGEKITKVYELGNEPERKLWVDRYLTFMEERGSPVSSLPAVGKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQYLFAFECKTERGEEPPPEVFSTGDSKKQPKLQPPSPANSGSLQGPQTPQSTGSNSMAEVPGDLKPPTPASTPHGQMTPMQSGRSSTVSVHDPFSDVSDSAYPKRNSMTPNAPYQQGMGMPDMMGRMPYEPNKDPFSGMRKVPGSSEPFMTQGQVPNSGMQDMYNQSPSGAMSNLGMGQRQQFPYGTSYDRRHEAYGQQYPGQGPPTGQPPYGGHQPGLYPQQPNYKRHMDGMYGPPAKRHEGDMYNMQYGSQQQEMYNQYGGSYSGPDRRPIQGQYPYPYNRERMQGPGQMQPHGIPPQMMGGPMQSSSSEGPQQNMWATRNDMPYPYQSRQGPGGPAQAPPYPGMNRTDDMMVPEQRINHESQWPSHVSQRQPYMSSSASMQPITRPPQSSYQTPPSLPNHISRAPSPASFQRSLESRMSPSKSPFLPTMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPPGSVEASQPILKQRRKITSKDIVTPEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLIDIFGILMEYEVGDPSQKALDHRSGKKDDSQSLEDDSGKEDDDAECLVEEEEEEEEEEEDSEKIESEGKSSPALAAPDASVDPKETPKQASKFDKLPIKIVKKNKLFVVDRSDKLGRVQEFSSGLLHWQLGGGDTTEHIQTHFESKMEIPPRRRPPPPLSSTGKKKELEGKGDSEEQPEKSIIATIDDVLSARPGALPEDTNPGPQTDSGKFPFGIQQAKSHRNIRLLEDEPRSRDETPLCTIAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPGLVLILGKLILLHHEHPERKRAPQTYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLANISGQLDLSAYTESICLPILDGLLHWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLSIQDNNVDLILATPPFSRQEKFYATLVRYVGDRKNPVCREMSMALLSNLAQGDTLAARAIAVQKGSIGNLISFLEDGVTMAQYQQSQHNLMHMQPPPLEPPSVDMMCRAAKALLAMARVDENRSEFLLHEGRLLDISISAVLNSLVASVICDVLFQIGQL", "length": 2306 }, "evidence": [ { "id": "45227155", "url": "http://www.informatics.jax.org/homology/45227155", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 15, "go_terms": [ { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "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": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "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": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "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": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation", "id": "GO:0045582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045582", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "regulation of G0 to G1 transition", "id": "GO:0070316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070316", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "SWI/SNF complex", "id": "GO:0016514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016514", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "npBAF complex", "id": "GO:0071564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071564", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "nBAF complex", "id": "GO:0071565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071565", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "brahma complex", "id": "GO:0035060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035060", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" }, { "name": "bBAF complex", "id": "GO:0140092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140092", "evidence": [ { "database": "UniProtKB", "id": "Q8NFD5", "url": "https://www.uniprot.org/uniprot/Q8NFD5" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1038, "end_pos": 1040, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1054, "end_pos": 1056, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1055, "end_pos": 1057, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1075, "end_pos": 1077, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1373, "end_pos": 1375, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1381, "end_pos": 1383, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1564, "end_pos": 1566, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1742, "end_pos": 1744, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2100, "end_pos": 2102, "annotation": "n_glycosylation_sequon" }, { "start_pos": 220, "end_pos": 222, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2281, "end_pos": 2283, "annotation": "n_glycosylation_sequon" }, { "start_pos": 817, "end_pos": 819, "annotation": "n_glycosylation_sequon" }, { "start_pos": 905, "end_pos": 907, "annotation": "n_glycosylation_sequon" }, { "start_pos": 922, "end_pos": 924, "annotation": "n_glycosylation_sequon" }, { "start_pos": 982, "end_pos": 984, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 47 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }