{ "uniprot_canonical_ac": "O75530-1", "uniprot_ac": "O75530", "uniprot_id": "EED_HUMAN", "mass": { "chemical_mass": 50198.0, "monoisotopic_mass": 50198.0 }, "refseq": { "ac": "NP_001294936", "name": "polycomb protein EED isoform c", "summary": "This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294936" }, "gene_names": [ { "name": "EED", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75530", "id": "O75530" }, { "name": "COGIS; HEED; WAIT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294936", "id": "NP_001294936" }, { "name": "EED", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294936", "id": "NP_001294936" } ], "protein_names": [ { "name": "Polycomb protein EED", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75530" }, { "name": "Embryonic ectoderm development protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75530" }, { "name": "WAIT-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75530" }, { "name": "WD protein associating with integrin cytoplasmic tails 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75530" }, { "name": "hEED", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75530" }, { "name": "polycomb protein EED isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294936", "id": "NP_001294936" }, { "name": "polycomb protein EED; WD protein associating with integrin cytoplasmic tails 1; embryonic ectoderm development protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294936", "id": "NP_001294936" } ], "function": [ { "annotation": "EED related overgrowth: First report of multiple members in a single family.", "evidence": [ { "database": "RefSeq", "id": "NP_001294936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294936" }, { "database": "PubMed", "id": "37840385", "url": "https://glygen.org/publication/PubMed/37840385" } ] }, { "annotation": "Embryonic Ectoderm Development (EED) as a Novel Target for Cancer Treatment. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001294936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294936" }, { "database": "PubMed", "id": "34544341", "url": "https://glygen.org/publication/PubMed/34544341" } ] }, { "annotation": "Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes 'Lys-26' trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 'Lys-27', whereas H3 'Lys-27' recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A.", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530#function" }, { "database": "PubMed", "id": "15231737", "url": "https://glygen.org/publication/PubMed/15231737" }, { "database": "PubMed", "id": "20974918", "url": "https://glygen.org/publication/PubMed/20974918" }, { "database": "PubMed", "id": "14532106", "url": "https://glygen.org/publication/PubMed/14532106" }, { "database": "PubMed", "id": "15385962", "url": "https://glygen.org/publication/PubMed/15385962" }, { "database": "PubMed", "id": "16357870", "url": "https://glygen.org/publication/PubMed/16357870" }, { "database": "PubMed", "id": "28229514", "url": "https://glygen.org/publication/PubMed/28229514" }, { "database": "PubMed", "id": "15225548", "url": "https://glygen.org/publication/PubMed/15225548" }, { "database": "PubMed", "id": "10581039", "url": "https://glygen.org/publication/PubMed/10581039" }, { "database": "PubMed", "id": "18285464", "url": "https://glygen.org/publication/PubMed/18285464" }, { "database": "PubMed", "id": "9584199", "url": "https://glygen.org/publication/PubMed/9584199" } ] }, { "annotation": "The PRC2 molecule EED is a target of epigenetic therapy for neuroblastoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001294936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294936" }, { "database": "PubMed", "id": "35636260", "url": "https://glygen.org/publication/PubMed/35636260" } ] }, { "annotation": "This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001294936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294936" } ] } ], "disease": [ { "disease_id": "MONDO:0060510", "recommended_name": { "id": "MONDO:0060510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060510", "name": "Cohen-Gibson syndrome", "description": "" }, "synonyms": [ { "id": "MONDO:0060510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060510", "name": "Cohen-Gibson syndrome", "description": "" }, { "id": "MONDO:0060510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060510", "name": "COGIS", "description": "" }, { "id": "MIM:617561", "resource": "MIM", "url": "https://www.omim.org/entry/617561", "name": "Cohen-Gibson syndrome", "description": "Cohen-Gibson syndrome" } ], "evidence": [ { "id": "617561", "database": "MIM", "url": "https://www.omim.org/entry/617561" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 148, "end_pos": 148, "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes binding to H3K27me3.", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" }, { "database": "PubMed", "id": "20974918", "url": "https://glygen.org/publication/PubMed/20974918" } ] }, { "start_pos": 193, "end_pos": 193, "sequence_org": "I", "sequence_mut": "N", "comment": "Impairs interaction with EZH2.", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" }, { "database": "PubMed", "id": "9584199", "url": "https://glygen.org/publication/PubMed/9584199" } ] }, { "start_pos": 196, "end_pos": 196, "sequence_org": "L", "sequence_mut": "P", "comment": "Impairs interaction with EZH2.", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" }, { "database": "PubMed", "id": "9584199", "url": "https://glygen.org/publication/PubMed/9584199" } ] }, { "start_pos": 300, "end_pos": 301, "sequence_org": "ST", "sequence_mut": "AA", "comment": "Impairs interaction with the matrix protein MA of HIV-1.", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" }, { "database": "PubMed", "id": "9880543", "url": "https://glygen.org/publication/PubMed/9880543" } ] }, { "start_pos": 305, "end_pos": 308, "sequence_org": "HRNY", "sequence_mut": "AAAA", "comment": "Impairs interaction with the matrix protein MA of HIV-1.", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" }, { "database": "PubMed", "id": "9880543", "url": "https://glygen.org/publication/PubMed/9880543" } ] }, { "start_pos": 364, "end_pos": 364, "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes binding to H3K27me3.", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" }, { "database": "PubMed", "id": "20974918", "url": "https://glygen.org/publication/PubMed/20974918" } ] }, { "start_pos": 364, "end_pos": 364, "sequence_org": "W", "sequence_mut": "L", "comment": "Abolishes binding to H3K27me3.", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" }, { "database": "PubMed", "id": "20974918", "url": "https://glygen.org/publication/PubMed/20974918" } ] }, { "start_pos": 365, "end_pos": 365, "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes binding to H3K27me3.", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" }, { "database": "PubMed", "id": "20974918", "url": "https://glygen.org/publication/PubMed/20974918" } ] }, { "start_pos": 97, "end_pos": 97, "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes binding to H3K27me3.", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" }, { "database": "PubMed", "id": "20974918", "url": "https://glygen.org/publication/PubMed/20974918" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000074266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000074266" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000074266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000074266" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000074266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000074266" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000074266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000074266" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000074266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000074266" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000074266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000074266" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000074266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000074266" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000074266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000074266" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000074266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000074266" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75530", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75530" } ], "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": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75530", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75530" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75530", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75530" } ], "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": 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"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": 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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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75530", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75530" } ], "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 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"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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75530", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75530" } ], "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": "O75530", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75530" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75530", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75530" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75530", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75530" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75530" } ], "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": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75530", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75530" } ], "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": 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"https://www.rcsb.org/structure/5H14", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H15", "url": "https://www.rcsb.org/structure/5H15", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H17", "url": "https://www.rcsb.org/structure/5H17", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H19", "url": "https://www.rcsb.org/structure/5H19", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H24", "url": "https://www.rcsb.org/structure/5H24", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H25", "url": "https://www.rcsb.org/structure/5H25", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5HYN", "url": "https://www.rcsb.org/structure/5HYN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5IJ7", "url": "https://www.rcsb.org/structure/5IJ7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5IJ8", "url": "https://www.rcsb.org/structure/5IJ8", "database": "PDB", 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"https://www.rcsb.org/structure/6WKR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6YVI", "url": "https://www.rcsb.org/structure/6YVI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6YVJ", "url": "https://www.rcsb.org/structure/6YVJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KSO", "url": "https://www.rcsb.org/structure/7KSO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KSR", "url": "https://www.rcsb.org/structure/7KSR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KTP", "url": "https://www.rcsb.org/structure/7KTP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KXT", "url": "https://www.rcsb.org/structure/7KXT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MSB", "url": "https://www.rcsb.org/structure/7MSB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MSD", "url": "https://www.rcsb.org/structure/7MSD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7P3C", "url": "https://www.rcsb.org/structure/7P3C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7P3G", "url": "https://www.rcsb.org/structure/7P3G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7P3J", "url": "https://www.rcsb.org/structure/7P3J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7QJG", "url": "https://www.rcsb.org/structure/7QJG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7QJU", "url": "https://www.rcsb.org/structure/7QJU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7QK4", "url": "https://www.rcsb.org/structure/7QK4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7SI4", "url": "https://www.rcsb.org/structure/7SI4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7SI5", "url": "https://www.rcsb.org/structure/7SI5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TD5", "url": "https://www.rcsb.org/structure/7TD5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8FYH", "url": "https://www.rcsb.org/structure/8FYH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00400", "url": "http://pfam.xfam.org/family/PF00400", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75530", "url": "https://pharos.nih.gov/targets/O75530", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75530", "url": "http://purl.obolibrary.org/obo/PR_O75530", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9609690", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609690", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9710421", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9710421", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001294936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294936", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A5F9ZI63", "url": "https://www.uniprot.org/uniprot/A0A5F9ZI63", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZI63-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZI63-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A9L9PY60", "url": "https://www.uniprot.org/uniprot/A0A9L9PY60", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A9L9PY60-1", "url": "https://www.uniprot.org/uniprot/A0A9L9PY60-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PJK2", "url": "https://www.uniprot.org/uniprot/E9PJK2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PJK2-1", "url": "https://www.uniprot.org/uniprot/E9PJK2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMU3", "url": "https://www.uniprot.org/uniprot/E9PMU3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMU3-1", "url": "https://www.uniprot.org/uniprot/E9PMU3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEL4", "url": "https://www.uniprot.org/uniprot/H0YEL4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEL4-1", "url": "https://www.uniprot.org/uniprot/H0YEL4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75530-1", "url": "https://www.uniprot.org/uniprot/O75530-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75530-2", "url": "https://www.uniprot.org/uniprot/O75530-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75530-3", "url": "https://www.uniprot.org/uniprot/O75530-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSEREVSTAPAGTDMPAAKKQKLSSDENSNPDLSGDENDDAVSIESGTNTERPDTPTNTPNAPGRKSWGKGKWKSKKCKYSFKCVNSLKEDHNQPLFGVQFNWHSKEGDPLVFATVGSNRVTLYECHSQGEIRLLQSYVDADADENFYTCAWTYDSNTSHPLLAVAGSRGIIRIINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHALRLWNIQTDTLVAIFGGVEGHRDEVLSADYDLLGEKIMSCGMDHSLKLWRINSKRMMNAIKESYDYNPNKTNRPFISQKIHFPDFSTRDIHRNYVDCVRWLGDLILSKSCENAIVCWKPGKMEDDIDKIKPSESNVTILGRFDYSQCDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAKCTTLTHHKCGAAIRQTSFSRDSSILIAVCDDASIWRWDRLR", "length": 441, "header": "sp|O75530-1|EED_HUMAN Isoform 1 of Polycomb protein EED OS=Homo sapiens OX=9606 GN=EED PE=1 SV=2 CANONICAL=O75530-1" }, "isoforms": [ { "isoform_ac": "A0A5F9ZI63-1", "url": "", "sequence": { "sequence": "MAGSHARPPRRLGAICDSGGGGGGGGGSGNFAASSGRACLTAVWRRPRPRRQEPGGRRRNMSEREVSTAPAGTDMPAAKKQKLSSDENSNPDLSGDENDDAVSIESGTNTERPDTPTNTPNAPGRKSWGKGKWKSKKCKYSFKCVNSLKEDHNQPLFGVQFNWHSKEGDPLVFATVGSNRVTLYECHSQGEIRLLQSYVDADADENFYTCAWTYDSNTSHPLLAVAGSRGIIRIINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHALRLWNIQTDTLVAIFGGVEGHRDEVLSADYDLLGEKIMSCGMDHSLKLWRINSKRMMNAIKESYDYNPNKTNRPFISQKIHFPDFSTRDIHRNYVDCVRWLGDLILSKSCENAIVCWKPGKMEDDIDKIKPSESNVTILGRFDYSQCDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAKCTTLTHHKCGAAIRQTSFSRDSSILIAVCDDASIWRWDRLR", "length": 501, "header": "tr|A0A5F9ZI63-1|EED_HUMAN Computationally mapped isoform of Polycomb protein EED OS=Homo sapiens OX=9606 GN=EED PE=1 SV=2 CANONICAL=O75530-1" }, "locus": { "chromosome": "11", "start_pos": 86278522, "end_pos": 86245050, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000673233.2", "url": "https://www.ensembl.org/id/ENST00000673233.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000500914.2", "url": "https://www.ensembl.org/id/ENSP00000500914.2" } ] } }, { "isoform_ac": "A0A9L9PY60-1", "url": "", "sequence": { "sequence": "MIRDDAVSIESGTNTERPDTPTNTPNAPGRKSWGKGKWKSKKCKYSFKCVNSLKEDHNQPLFGVQFNWHSKEGDPLVFATVGSNRVTLYECHSQGEIRLLQSYVDADADENFYTCAWTYDSNTSHPLLAVAGSRGIIRIINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHALRLWNIQTDTLVAIFGGVEGHRDEVLSADYDLLGEKIMSCGMDHSLKLWRINSKRMMNAIKESYDYNPNKTNRPFISQKIHFPDFSTRDIHRNYVDCVRWLGDLILSKSCENAIVCWKPGKMEDDIDKIKPSESNVTILGRFDYSQCDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAKCTTLTHHKCGAAIRQTSFSRDSSILIAVCDDASIWRWDRLR", "length": 406, "header": "tr|A0A9L9PY60-1|EED_HUMAN Computationally mapped isoform of Polycomb protein EED OS=Homo sapiens OX=9606 GN=EED PE=1 SV=1 CANONICAL=O75530-1" }, "locus": { "chromosome": "11", "start_pos": 86278522, "end_pos": 86206470, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000707108.1", "url": "https://www.ensembl.org/id/ENST00000707108.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516737.1", "url": "https://www.ensembl.org/id/ENSP00000516737.1" } ] } }, { "isoform_ac": "E9PJK2-1", "url": "", "sequence": { "sequence": "MSEREVSTAPAGTDMPAAKKQKLSSDENSNPDLSGDENDDAVSIESGTNTERPDTPTNTPNAPGRKSWGKGKWKSKKCKYSFKCVNSLKEDHNQPLFGVQFNWHSKEGDPLVFATVGSNRVTLYECHSQGEIRLLQSYVDADADENFYTCAWTYDSNTSHPLLAVAGSRGIIRIINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHALRLWNIQTDTLVAIFGGVEGHRDEVLSASCENAIVCWKPGKMEDDIDKIKPSESNVTILGRFDYSQCDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAKCTTLTHHKCGAAIRQTSFSRDSSILIAVCDDASIWRWDRLR", "length": 361, "header": "tr|E9PJK2-1|E9PJK2_HUMAN Computationally mapped isoform of Embryonic ectoderm development OS=Homo sapiens OX=9606 GN=EED PE=1 SV=1 CANONICAL=O75530-1" }, "locus": { "chromosome": "11", "start_pos": 86278522, "end_pos": 86245230, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528180.5", "url": "https://www.ensembl.org/id/ENST00000528180.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431778.1", "url": "https://www.ensembl.org/id/ENSP00000431778.1" } ] } }, { "isoform_ac": "E9PMU3-1", "url": "", "sequence": { "sequence": "MEDDIDKIKPSESNVTILGRFDYSQCDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAKCTTLTHHKCGAAIRQTSFSRDSSILIAVCDDASIWRWDRLR", "length": 106, "header": "tr|E9PMU3-1|EED_HUMAN Computationally mapped isoform of Polycomb protein EED OS=Homo sapiens OX=9606 GN=EED PE=1 SV=1 CANONICAL=O75530-1" }, "locus": { "chromosome": "11", "start_pos": 86278522, "end_pos": 86277019, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527888.1", "url": "https://www.ensembl.org/id/ENST00000527888.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000437318.1", "url": "https://www.ensembl.org/id/ENSP00000437318.1" } ] } }, { "isoform_ac": "H0YEL4-1", "url": "", "sequence": { "sequence": "XEREVSTAPAGTDMPAAKKQKLSSDENSNPDLSGDENSCENAIVCWKPGKMEDDIDKIKPSESNVTILGRFDYSQCDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAK", "length": 115, "header": "tr|H0YEL4-1|H0YEL4_HUMAN Computationally mapped isoform of Embryonic ectoderm development OS=Homo sapiens OX=9606 GN=EED PE=1 SV=1 CANONICAL=O75530-1" }, "locus": { "chromosome": "11", "start_pos": 86277993, "end_pos": 86245234, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534595.1", "url": "https://www.ensembl.org/id/ENST00000534595.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436084.1", "url": "https://www.ensembl.org/id/ENSP00000436084.1" } ] } }, { "isoform_ac": "O75530-1", "url": "", "sequence": { "sequence": "MSEREVSTAPAGTDMPAAKKQKLSSDENSNPDLSGDENDDAVSIESGTNTERPDTPTNTPNAPGRKSWGKGKWKSKKCKYSFKCVNSLKEDHNQPLFGVQFNWHSKEGDPLVFATVGSNRVTLYECHSQGEIRLLQSYVDADADENFYTCAWTYDSNTSHPLLAVAGSRGIIRIINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHALRLWNIQTDTLVAIFGGVEGHRDEVLSADYDLLGEKIMSCGMDHSLKLWRINSKRMMNAIKESYDYNPNKTNRPFISQKIHFPDFSTRDIHRNYVDCVRWLGDLILSKSCENAIVCWKPGKMEDDIDKIKPSESNVTILGRFDYSQCDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAKCTTLTHHKCGAAIRQTSFSRDSSILIAVCDDASIWRWDRLR", "length": 441, "header": "sp|O75530-1|EED_HUMAN Isoform 1 of Polycomb protein EED OS=Homo sapiens OX=9606 GN=EED PE=1 SV=2 CANONICAL=O75530-1" }, "locus": { "chromosome": "11", "start_pos": 86278522, "end_pos": 86245230, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000263360.11", "url": "https://www.ensembl.org/id/ENST00000263360.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000263360.6", "url": "https://www.ensembl.org/id/ENSP00000263360.6" } ] } }, { "isoform_ac": "O75530-2", "url": "", "sequence": { "sequence": "MSEREVSTAPAGTDMPAAKKQKLSSDENSNPDLSGDENDDAVSIESGTNTERPDTPTNTPNAPGRKSWGKGKWKSKKCKYSFKCVNSLKEDHNQPLFGVQFNWHSKEGDPLVFATVGSNRVTLYECHSQGEIRLLQSYVDADADENFYTCAWTYDSNTSHPLLAVAGSRGIIRIINPITMQCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHALRLWNIQTDTLVAIFGGVEGHRDEVLSADYDLLGEKIMSCGMDHSLKLWRINSKRMMNAIKESYDYNPNKTNRPFISQKIHFPDFSTRDIHRNYVDCVRWLGDLILSKSGRAILHSHQQCMRDPVSPNLRQHLSCENAIVCWKPGKMEDDIDKIKPSESNVTILGRFDYSQCDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAKCTTLTHHKCGAAIRQTSFSRDSSILIAVCDDASIWRWDRLR", "length": 466, "header": "sp|O75530-2|EED_HUMAN Isoform 2 of Polycomb protein EED OS=Homo sapiens OX=9606 GN=EED PE=1 SV=2 CANONICAL=O75530-1" }, "locus": { "chromosome": "11", "start_pos": 86278522, "end_pos": 86245230, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000351625.10", "url": "https://www.ensembl.org/id/ENST00000351625.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000338186.5", "url": "https://www.ensembl.org/id/ENSP00000338186.5" } ] } }, { "isoform_ac": "O75530-3", "url": 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"UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" }, { "database": "iPTMnet", "id": "O75530", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75530" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser34" }, { "start_pos": 43, "end_pos": 43, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75530", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75530" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser43" }, { "start_pos": 46, "end_pos": 46, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75530", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75530" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser46" }, { "start_pos": 50, "end_pos": 50, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75530", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75530" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr50" }, { "start_pos": 55, "end_pos": 55, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" }, { "database": "PubMed", "id": "18669648", "url": 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human p14(ARF) to the granular component of the interphase nucleolus.", "journal": "Experimental cell research", "date": "2000", "authors": "Lindstrom MS, Klangby U, Inoue R, Pisa P, Wiman KG, Asker CE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "10772813", "url": "https://glygen.org/publication/PubMed/10772813" } ] }, { "title": "Recruitment of nuclear receptor corepressor and coactivator to the retinoic acid receptor by retinoid ligands. Influence of DNA-heterodimer interactions.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Klein ES, Wang JW, Khalifa B, Gavigan SA, Chandraratna RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "10777502", "url": "https://glygen.org/publication/PubMed/10777502" } ] }, { "title": "c-Jun inhibits transforming growth factor beta-mediated transcription by repressing Smad3 transcriptional activity.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Dennler S, Prunier C, Ferrand N, Gauthier JM, Atfi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "10871633", "url": "https://glygen.org/publication/PubMed/10871633" } ] }, { "title": "Regulation of chromatin structure by site-specific histone H3 methyltransferases.", "journal": "Nature", "date": "2000", "authors": "Rea S, Eisenhaber F, O'Carroll D, Strahl BD, Sun ZW, Schmid M, Opravil S, Mechtler K, Ponting CP, Allis CD, Jenuwein T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "10949293", "url": "https://glygen.org/publication/PubMed/10949293" } ] }, { "title": "The polycomb group protein EED interacts with YY1, and both proteins induce neural tissue in Xenopus embryos.", "journal": "Mol. Cell. Biol.", "date": "2001", "authors": "Satijn D P, Hamer K M, den Blaauwen J, Otte A P", "evidence": [ { "database": "UniProtKB", "id": "O75530", "url": "https://www.uniprot.org/uniprot/O75530" } ], "reference": [ { "type": "PubMed", "id": "11158321", "url": "https://glygen.org/publication/PubMed/11158321" } ] }, { "title": "The E2F6 transcription factor is a component of the mammalian Bmi1-containing polycomb complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Trimarchi JM, Fairchild B, Wen J, Lees JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" } ], "reference": [ { "type": "PubMed", "id": "11171983", "url": "https://glygen.org/publication/PubMed/11171983" } ] }, { "title": "Tumor suppressor and anti-inflammatory actions of PPARgamma agonists are mediated via upregulation of PTEN.", "journal": "Current biology : CB", "date": "2001", "authors": "Patel L, Pass I, Coxon P, Downes CP, Smith SA, Macphee CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "11378386", "url": "https://glygen.org/publication/PubMed/11378386" } ] }, { "title": "Regulation of PTEN transcription by p53.", "journal": "Molecular cell", "date": "2001", "authors": "Stambolic V, MacPherson D, Sas D, Lin Y, Snow B, Jang Y, Benchimol S, Mak TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "11545734", "url": "https://glygen.org/publication/PubMed/11545734" } ] }, { "title": "Use of chromatin immunoprecipitation to clone novel E2F target promoters.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Weinmann AS, Bartley SM, Zhang T, Zhang MQ, Farnham PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "11564866", "url": "https://glygen.org/publication/PubMed/11564866" } ] }, { "title": "The Egr-1 transcription factor directly activates PTEN during irradiation-induced signalling.", "journal": "Nature cell biology", "date": "2001", "authors": "Virolle T, Adamson ED, Baron V, Birle D, Mercola D, Mustelin T, de Belle I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "11781575", "url": "https://glygen.org/publication/PubMed/11781575" } ] }, { "title": "SETDB1: a novel KAP-1-associated histone H3, lysine 9-specific methyltransferase that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins.", "journal": "Genes & development", "date": "2002", "authors": "Schultz DC, Ayyanathan K, Negorev D, Maul GG, Rauscher FJ 3rd", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "11959841", "url": "https://glygen.org/publication/PubMed/11959841" } ] }, { "title": "p53 regulates cell survival by inhibiting PIK3CA in squamous cell carcinomas.", "journal": "Genes & development", "date": "2002", "authors": "Singh B, Reddy PG, Goberdhan A, Walsh C, Dao S, Ngai I, Chou TC, O-Charoenrat P, Levine AJ, Rao PH, Stoffel A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "11959846", "url": "https://glygen.org/publication/PubMed/11959846" } ] }, { "title": "A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Ogawa H, Ishiguro K, Gaubatz S, Livingston DM, Nakatani Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" } ], "reference": [ { "type": "PubMed", "id": "12004135", "url": "https://glygen.org/publication/PubMed/12004135" } ] }, { "title": "Selective interactions between vertebrate polycomb homologs and the SUV39H1 histone lysine methyltransferase suggest that histone H3-K9 methylation contributes to chromosomal targeting of Polycomb group proteins.", "journal": "Mol. 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