{ "uniprot_canonical_ac": "O43189-1", "uniprot_ac": "O43189", "uniprot_id": "PHF1_HUMAN", "mass": { "chemical_mass": 62106.0, "monoisotopic_mass": 62106.0 }, "refseq": { "ac": "NP_002627", "name": "PHD finger protein 1 isoform a", "summary": "This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" }, "gene_names": [ { "name": "PHF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43189", "id": "O43189" }, { "name": "PCL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43189", "id": "O43189" }, { "name": "PHF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627", "id": "NP_002627" }, { "name": "hPHF1; MTF2L2; PCL1; PHF2; TDRD19C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627", "id": "NP_002627" } ], "protein_names": [ { "name": "PHD finger protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43189" }, { "name": "PHD finger protein 1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627", "id": "NP_002627" }, { "name": "Polycomb-like protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43189" }, { "name": "Protein PHF1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43189" }, { "name": "hPCl1; polycomb-like protein 1; tudor domain containing 19C; testicular tissue protein Li 140; polycomb-like 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627", "id": "NP_002627" }, { "name": "hPCl1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43189" }, { "name": "hPHF1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43189" } ], "function": [ { "annotation": "A PHF1-TFE3 fusion atypical ossifying fibromyxoid tumor with prominent collagenous rosettes: Case report with a brief review.", "evidence": [ { "database": "RefSeq", "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" }, { "database": "PubMed", "id": "34560087", "url": "https://glygen.org/publication/PubMed/34560087" } ] }, { "annotation": "PHF1 modulates the activity of Ezh2 in favor of the repressive H3K27me3 mark", "evidence": [ { "database": "RefSeq", "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" }, { "database": "PubMed", "id": "18285464", "url": "https://glygen.org/publication/PubMed/18285464" } ] }, { "annotation": "Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Involved in DNA damage response and is recruited at double-strand breaks (DSBs). Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex: it is however unclear whether recruitment of the PRC2 complex to H3K36me3 leads to enhance or inhibit H3K27me3 methylation mediated by the PRC2 complex. According to some reports, PRC2 recruitment by PHF1 promotes H3K27me3 and subsequent gene silencing by inducing spreading of PRC2 and H3K27me3 into H3K36me3 loci (PubMed:18285464, PubMed:23273982). According to another report, PHF1 recruits the PRC2 complex at double-strand breaks (DSBs) and inhibits the activity of PRC2 (PubMed:23142980). Regulates p53/TP53 stability and prolonges its turnover: may act by specifically binding to a methylated from of p53/TP53.", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189#function" }, { "database": "PubMed", "id": "23273982", "url": "https://glygen.org/publication/PubMed/23273982" }, { "database": "PubMed", "id": "18385154", "url": "https://glygen.org/publication/PubMed/18385154" }, { "database": "PubMed", "id": "23142980", "url": "https://glygen.org/publication/PubMed/23142980" }, { "database": "PubMed", "id": "18285464", "url": "https://glygen.org/publication/PubMed/18285464" }, { "database": "PubMed", "id": "18086877", "url": "https://glygen.org/publication/PubMed/18086877" }, { "database": "PubMed", "id": "23150668", "url": "https://glygen.org/publication/PubMed/23150668" } ] }, { "annotation": "Primary malignant ossifying fibromyxoid tumour of the bone. A clinicopathologic and molecular report of two cases.", "evidence": [ { "database": "RefSeq", "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" }, { "database": "PubMed", "id": "33179613", "url": "https://glygen.org/publication/PubMed/33179613" } ] }, { "annotation": "The role of PHF1 in H3K27 methylation and Hox gene silencing is reported.", "evidence": [ { "database": "RefSeq", "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" }, { "database": "PubMed", "id": "18086877", "url": "https://glygen.org/publication/PubMed/18086877" } ] }, { "annotation": "This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" } ] }, { "annotation": "When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion.", "evidence": [ { "database": "RefSeq", "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" }, { "database": "PubMed", "id": "37819540", "url": "https://glygen.org/publication/PubMed/37819540" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1483289271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483289271" }, { "id": "rs1483289271", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483289271" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 488, "end_pos": 488, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "6", "chr_pos": "33415857", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S488", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1471981210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1471981210" }, { "id": "rs1471981210", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1471981210" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 8, "end_pos": 8, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "6", "chr_pos": "33412286", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S8", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 41, "end_pos": 41, "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes histone H3K36me3-binding and localization at double-strand breaks (DSBs).", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" }, { "database": "PubMed", "id": "23273982", "url": "https://glygen.org/publication/PubMed/23273982" }, { "database": "PubMed", "id": "23142980", "url": "https://glygen.org/publication/PubMed/23142980" } ] }, { "start_pos": 47, "end_pos": 47, "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes histone H3K36me3-binding.", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" }, { "database": "PubMed", "id": "23273982", "url": "https://glygen.org/publication/PubMed/23273982" }, { "database": "PubMed", "id": "23142980", "url": "https://glygen.org/publication/PubMed/23142980" } ] }, { "start_pos": 65, "end_pos": 65, "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes histone H3K36me3-binding.", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" }, { "database": "PubMed", "id": "23273982", "url": "https://glygen.org/publication/PubMed/23273982" } ] }, { "start_pos": 66, "end_pos": 66, "sequence_org": "E", "sequence_mut": "K", "comment": "Impairs histone H3K36me3-binding.", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" }, { "database": "PubMed", "id": "23273982", "url": "https://glygen.org/publication/PubMed/23273982" } ] }, { "start_pos": 71, "end_pos": 71, "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes histone H3K36me3-binding.", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" }, { "database": "PubMed", "id": "23273982", "url": "https://glygen.org/publication/PubMed/23273982" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "87.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "91.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "89.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "95.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "91.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112511", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112511" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43189" } ], "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, 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43189" } ], "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 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"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": "O43189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43189" } ], "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": 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"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 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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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43189" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43189" } ], "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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43189" } ], "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": "O43189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43189" } ], "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": "O43189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43189" } ], "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": "O43189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43189" } ], "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": "O43189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43189" } ], "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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"Other" ] }, { "id": "NX_O43189", "url": "https://www.nextprot.org/entry/NX_O43189", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43189", "url": "https://oglcnac.org/atlas/detail/O43189", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O43189", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43189", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CAGPGWN", "url": "https://omabrowser.org/oma/group/CAGPGWN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5483634at2759", "url": "http://www.orthodb.org/?query=5483634at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12628", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12628", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12628:SF11", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12628:SF11", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2E5P", "url": "https://www.rcsb.org/structure/2E5P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2M0O", "url": "https://www.rcsb.org/structure/2M0O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4HCZ", "url": "https://www.rcsb.org/structure/4HCZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XFN", "url": "https://www.rcsb.org/structure/5XFN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XFO", "url": "https://www.rcsb.org/structure/5XFO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XFP", "url": "https://www.rcsb.org/structure/5XFP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6WAT", "url": "https://www.rcsb.org/structure/6WAT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6WAV", "url": "https://www.rcsb.org/structure/6WAV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LKY", "url": "https://www.rcsb.org/structure/7LKY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00628", "url": "http://pfam.xfam.org/family/PF00628", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14061", "url": "http://pfam.xfam.org/family/PF14061", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF18104", "url": "http://pfam.xfam.org/family/PF18104", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43189", "url": "https://pharos.nih.gov/targets/O43189", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43189", "url": "http://purl.obolibrary.org/obo/PR_O43189", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WVG4", "url": "https://www.uniprot.org/uniprot/A0A087WVG4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WVG4-1", "url": "https://www.uniprot.org/uniprot/A0A087WVG4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JIJ9", "url": "https://www.uniprot.org/uniprot/A0A0G2JIJ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JIJ9-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JIJ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9U3", "url": "https://www.uniprot.org/uniprot/A0A140T9U3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9U3-1", "url": "https://www.uniprot.org/uniprot/A0A140T9U3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA01", "url": "https://www.uniprot.org/uniprot/A0A140TA01", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA01-1", "url": "https://www.uniprot.org/uniprot/A0A140TA01-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA07", "url": "https://www.uniprot.org/uniprot/A0A140TA07", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA07-1", "url": "https://www.uniprot.org/uniprot/A0A140TA07-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AB22", "url": "https://www.uniprot.org/uniprot/A2AB22", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AB22-1", "url": "https://www.uniprot.org/uniprot/A2AB22-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AB23", "url": "https://www.uniprot.org/uniprot/A2AB23", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AB23-1", "url": "https://www.uniprot.org/uniprot/A2AB23-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AB25", "url": "https://www.uniprot.org/uniprot/A2AB25", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AB25-1", "url": "https://www.uniprot.org/uniprot/A2AB25-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQT8", "url": "https://www.uniprot.org/uniprot/E9PQT8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQT8-1", "url": "https://www.uniprot.org/uniprot/E9PQT8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQZ5", "url": "https://www.uniprot.org/uniprot/E9PQZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQZ5-1", "url": "https://www.uniprot.org/uniprot/E9PQZ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43189-1", "url": "https://www.uniprot.org/uniprot/O43189-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43189-2", "url": "https://www.uniprot.org/uniprot/O43189-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGHLSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKYFDFDREILPFTSENWDSLLLGELSDTPKGERSSRLLSALNSHKDRFISGREIKKRKCLFGLHARMPPPVEPPTGDGALTSFPSGQGPGGGVSRPLGKRRRPEPEPLRRRQKGKVEELGPPSAVRNQPEPQEQRERAHLQRALQASVSPPSPSPNQSYQGSSGYNFRPTDARCLPSSPIRMFASFHPSASTAGTSGDSGPPDRSPLELHIGFPTDIPKSAPHSMTASSSSVSSPSPGLPRRSAPPSPLCRSLSPGTGGGVRGGVGYLSRGDPVRVLARRVRPDGSVQYLVEWGGGGIF", "length": 567, "header": "sp|O43189-1|PHF1_HUMAN Isoform 1 of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=3 CANONICAL=O43189-1" }, "isoforms": [ { "isoform_ac": "A0A087WVG4-1", "url": "", "sequence": { "sequence": "MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKC", "length": 54, "header": "tr|A0A087WVG4-1|A0A087WVG4_HUMAN Computationally mapped isoform of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=1 CANONICAL=O43189-1" }, "locus": { "chromosome": "6", "start_pos": 33412518, "end_pos": 33412264, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000459809.5", "url": "https://www.ensembl.org/id/ENST00000459809.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000479423.1", "url": "https://www.ensembl.org/id/ENSP00000479423.1" } ] } }, { "isoform_ac": "A0A0G2JIJ9-1", "url": "", "sequence": { "sequence": "WGHPQQCAISPSPRSRGSGLICRGHCRPQCLHHPPALTRVTRAAAATTSGPQMPAACPGHPIRMFASFHPSASTAGTSGDSGPPDRSPLELHIGFPTDIPKSAPHSMTASSSSVSSPSPGLPRRSAPPSPLCRSLSPGTGGGVRGGVGYLSRGDPVRVLARRVRPDGSVQYLVEWGGGGIF", "length": 181, "header": "tr|A0A0G2JIJ9-1|PHF1_HUMAN Computationally mapped isoform of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=1 CANONICAL=O43189-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 4864820, "end_pos": 4863790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423868.1", "url": "https://www.ensembl.org/id/ENST00000423868.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000399226.1", "url": "https://www.ensembl.org/id/ENSP00000399226.1" } ] } }, { "isoform_ac": "A0A140T9U3-1", "url": "", "sequence": { "sequence": "XSLLLTATRTVSFQGERLRRGNVCLVSMLGCLPLWSPLLEMEHSPGQGPGGGVSRPLGKRRRPEPEPLRRRQKGKVEELGPPSAVRNQPEPQEQRERAHLQRALQASVSPPSPSPNQSYQGSSGYNFRPTDARCLPSPIRMFASFHPSASTAGTSGDSGPPDRSPLELHIGFPTDIPKSAPHSMTASSSSVSSPSPGLPRRSAPPSPLCRSLSPGTGGGVRGGVGYLSRGDPVRVLARRVRPD", "length": 243, "header": "tr|A0A140T9U3-1|A0A140T9U3_HUMAN Computationally mapped isoform of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=1 CANONICAL=O43189-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 4864776, "end_pos": 4863243, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000419154.5", "url": "https://www.ensembl.org/id/ENST00000419154.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413510.1", "url": "https://www.ensembl.org/id/ENSP00000413510.1" } ] } }, { "isoform_ac": "A0A140TA01-1", "url": "", "sequence": { "sequence": "MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGHLSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKYFDFDREILPFTSENWDSLLLGELSDTPKGERSSKLLSALNSHKDRFISGREIKKRKCLFGLHARMPPPVEPPTGDGALTSFPSGQGPGGGVSRPLGKRRRPEPEPLRRRQKGKVEELGPPSAP", "length": 393, "header": "tr|A0A140TA01-1|PHF1_HUMAN Computationally mapped isoform of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=1 CANONICAL=O43189-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 4863988, "end_pos": 4860991, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000495185.5", "url": "https://www.ensembl.org/id/ENST00000495185.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433516.1", "url": "https://www.ensembl.org/id/ENSP00000433516.1" } ] } }, { "isoform_ac": "A0A140TA07-1", "url": "", "sequence": { "sequence": "MPAACPAAPSGCLLPSTLLPAPQGPLGTVDPQTGHPWNFTLVSPQTSLKVPPTR", "length": 54, "header": "tr|A0A140TA07-1|PHF1_HUMAN Computationally mapped isoform of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=1 CANONICAL=O43189-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 4864596, "end_pos": 4864036, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475137.5", "url": "https://www.ensembl.org/id/ENST00000475137.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434774.1", "url": "https://www.ensembl.org/id/ENSP00000434774.1" } ] } }, { "isoform_ac": "A2AB22-1", "url": "", "sequence": { "sequence": "MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIAT", "length": 145, "header": "tr|A2AB22-1|PHF1_HUMAN Computationally mapped isoform of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=1 CANONICAL=O43189-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 4862020, "end_pos": 4860991, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421466.5", "url": "https://www.ensembl.org/id/ENST00000421466.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000395839.1", "url": "https://www.ensembl.org/id/ENSP00000395839.1" } ] } }, { "isoform_ac": "A2AB23-1", "url": "", "sequence": { "sequence": "MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGHLSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGD", "length": 227, "header": "tr|A2AB23-1|PHF1_HUMAN Computationally mapped isoform of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=1 CANONICAL=O43189-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 4862556, "end_pos": 4860991, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447305.5", "url": "https://www.ensembl.org/id/ENST00000447305.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000396023.1", "url": "https://www.ensembl.org/id/ENSP00000396023.1" } ] } }, { "isoform_ac": "A2AB25-1", "url": "", "sequence": { "sequence": "XGATLSSAQSARAPGAEGAGSSAEGTAGLSVSTIPQP", "length": 37, "header": "tr|A2AB25-1|PHF1_HUMAN Computationally mapped isoform of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=2 CANONICAL=O43189-1" }, "locus": { "chromosome": "6", "start_pos": 33415265, "end_pos": 33415065, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427826.1", "url": "https://www.ensembl.org/id/ENST00000427826.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000404788.2", "url": "https://www.ensembl.org/id/ENSP00000404788.2" } ] } }, { "isoform_ac": "E9PQT8-1", "url": "", "sequence": { "sequence": "MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGHLSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKYFDFDREILPFTSENWDSLLLGELSDTPKGERSSRLLSALNSHKDRFISGREIKKRKCLFGLHARMPPPVEPPTGDGALTRAGPWGRGLTSPGEAPEAGARAPEEEAEGESGGAGATLSSAQSARAPGAEGAGSSAEGTAGLSVSTIPQP", "length": 419, "header": "tr|E9PQT8-1|PHF1_HUMAN Computationally mapped isoform of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=1 CANONICAL=O43189-1" }, "locus": { "chromosome": "6", "start_pos": 33415263, "end_pos": 33412264, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000495509.6", "url": "https://www.ensembl.org/id/ENST00000495509.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000434347.1", "url": "https://www.ensembl.org/id/ENSP00000434347.1" } ] } }, { "isoform_ac": "E9PQZ5-1", "url": "", "sequence": { "sequence": "MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGHLSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKYFDFDREILPFTSENWDSLLLGELSDTPKGERSSRLLSALNSHKDRFISGREIKKRKCLFGLHARMPPPVEPPTGDGALTSFPSGQGPGGGVSRPLGKRRRPEPEPLRRRQKGKVEELGPPSAP", "length": 393, "header": "tr|E9PQZ5-1|E9PQZ5_HUMAN Computationally mapped isoform of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=1 CANONICAL=O43189-1" }, "locus": { "chromosome": "6", "start_pos": 33415263, "end_pos": 33412264, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487667.5", "url": "https://www.ensembl.org/id/ENST00000487667.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432419.1", "url": "https://www.ensembl.org/id/ENSP00000432419.1" } ] } }, { "isoform_ac": "O43189-1", "url": "", "sequence": { "sequence": "MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGHLSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKYFDFDREILPFTSENWDSLLLGELSDTPKGERSSRLLSALNSHKDRFISGREIKKRKCLFGLHARMPPPVEPPTGDGALTSFPSGQGPGGGVSRPLGKRRRPEPEPLRRRQKGKVEELGPPSAVRNQPEPQEQRERAHLQRALQASVSPPSPSPNQSYQGSSGYNFRPTDARCLPSSPIRMFASFHPSASTAGTSGDSGPPDRSPLELHIGFPTDIPKSAPHSMTASSSSVSSPSPGLPRRSAPPSPLCRSLSPGTGGGVRGGVGYLSRGDPVRVLARRVRPDGSVQYLVEWGGGGIF", "length": 567, "header": "sp|O43189-1|PHF1_HUMAN Isoform 1 of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=3 CANONICAL=O43189-1" }, "locus": { "chromosome": "6", "start_pos": 33416095, "end_pos": 33412264, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374516.8", "url": "https://www.ensembl.org/id/ENST00000374516.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000363640.3", "url": "https://www.ensembl.org/id/ENSP00000363640.3" } ] } }, { "isoform_ac": "O43189-2", "url": "", "sequence": { "sequence": "MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGHLSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKYFDFDREILPFTSENWDSLLLGELSDTPKGERSSRLLSALNSHKDRFISGREIKKRKCLFGLHARMPPPVEPPTGDGALTRAGPWGRGLTSPGEAPEAGARAPEEEAEGESGGAGATLSSAQSARAPGAEGAGSSAEGTAAAPSGCLLPSTLLPAPQGPLGTVDPQTGHPWNFTLVSPQTSLKVPPTR", "length": 457, "header": "sp|O43189-2|PHF1_HUMAN Isoform 2 of PHD finger protein 1 OS=Homo sapiens OX=9606 GN=PHF1 PE=1 SV=3 CANONICAL=O43189-1" }, "locus": { "chromosome": "6", "start_pos": 33415871, "end_pos": 33412264, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374512.7", "url": "https://www.ensembl.org/id/ENST00000374512.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000363636.3", "url": "https://www.ensembl.org/id/ENSP00000363636.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 488, "start_aa": "Ser", "end_pos": 488, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser488", "evidence": [ { "id": "O43189", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43189" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O43189", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43189" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 488, "start_aa": "Ser", "end_pos": 488, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser488", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "phosphorylation": [ { "start_pos": 360, "end_pos": 360, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Gly", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" }, { "database": "iPTMnet", "id": "O43189", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43189" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Gly360" }, { "start_pos": 420, "end_pos": 420, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43189", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43189" } ], "site_lbl": "Ser420" }, { "start_pos": 522, "end_pos": 522, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43189", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43189" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ], "site_lbl": "Ser522" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Role of histone H3 lysine 27 methylation in Polycomb-group silencing.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Cao R, Wang L, Wang H, Xia L, Erdjument-Bromage H, Tempst P, Jones RS, Zhang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "12351676", "url": "https://glygen.org/publication/PubMed/12351676" } ] }, { "title": "Histone methyltransferase activity associated with a human multiprotein complex containing the Enhancer of Zeste protein.", "journal": "Genes & development", "date": "2002", "authors": "Kuzmichev A, Nishioka K, Erdjument-Bromage H, Tempst P, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "12435631", "url": "https://glygen.org/publication/PubMed/12435631" } ] }, { "title": "Different EZH2-containing complexes target methylation of histone H1 or nucleosomal histone H3.", "journal": "Molecular cell", "date": "2004", "authors": "Kuzmichev A, Jenuwein T, Tempst P, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "15099518", "url": "https://glygen.org/publication/PubMed/15099518" } ] }, { "title": "The Polycomb group protein EZH2 directly controls DNA methylation.", "journal": "Nature", "date": "2006", "authors": "Vire E, Brenner C, Deplus R, Blanchon L, Fraga M, Didelot C, Morey L, Van Eynde A, Bernard D, Vanderwinden JM, Bollen M, Esteller M, Di Croce L, de Launoit Y, Fuks F", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "16357870", "url": "https://glygen.org/publication/PubMed/16357870" } ] }, { "title": "Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma.", "journal": "Cancer Res.", "date": "2006", "authors": "Micci Francesca, Panagopoulos Ioannis, Bjerkehagen Bodil, Heim Sverre", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" } ], "reference": [ { "type": "PubMed", "id": "16397222", "url": "https://glygen.org/publication/PubMed/16397222" } ] }, { "title": "Substrate preferences of the EZH2 histone methyltransferase complex.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Martin C, Cao R, Zhang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "16431907", "url": "https://glygen.org/publication/PubMed/16431907" } ] }, { "title": "Role of hPHF1 in H3K27 methylation and Hox gene silencing.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Cao R, Wang H, He J, Erdjument-Bromage H, Tempst P, Zhang Y", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" }, { "database": "RefSeq", "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" } ], "reference": [ { "type": "PubMed", "id": "18086877", "url": "https://glygen.org/publication/PubMed/18086877" } ] }, { "title": "Ezh2 requires PHF1 to efficiently catalyze H3 lysine 27 trimethylation in vivo.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Sarma K, Margueron R, Ivanov A, Pirrotta V, Reinberg D", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" }, { "database": "RefSeq", "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" } ], "reference": [ { "type": "PubMed", "id": "18285464", "url": "https://glygen.org/publication/PubMed/18285464" } ] }, { "title": "A polycomb group protein, PHF1, is involved in the response to DNA double-strand breaks in human cell.", "journal": "Nucleic acids research", "date": "2008-05", "authors": "Hong Zehui, Jiang Jie, Lan Li, Nakajima Satoshi, Kanno Shin-ichiro, Koseki Haruhiko, Yasui Akira", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" } ], "reference": [ { "type": "PubMed", "id": "18385154", "url": "https://glygen.org/publication/PubMed/18385154" } ] }, { "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": "iPTMnet", "id": "O43189", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43189" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Polycomb proteins targeted by a short repeat RNA to the mouse X chromosome.", "journal": "Science (New York, N.Y.)", "date": "2008", "authors": "Zhao J, Sun BK, Erwin JA, Song JJ, Lee JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "18974356", "url": "https://glygen.org/publication/PubMed/18974356" } ] }, { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "O43189-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43189-1" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] }, { "title": "Ezh1 and Ezh2 maintain repressive chromatin through different mechanisms.", "journal": "Molecular cell", "date": "2008", "authors": "Margueron R, Li G, Sarma K, Blais A, Zavadil J, Woodcock CL, Dynlacht BD, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "19026781", "url": "https://glygen.org/publication/PubMed/19026781" } ] }, { "title": "Many human large intergenic noncoding RNAs associate with chromatin-modifying complexes and affect gene expression.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Khalil AM, Guttman M, Huarte M, Garber M, Raj A, Rivea Morales D, Thomas K, Presser A, Bernstein BE, van Oudenaarden A, Regev A, Lander ES, Rinn JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "19571010", "url": "https://glygen.org/publication/PubMed/19571010" } ] }, { "title": "JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells.", "journal": "Nature", "date": "2010", "authors": "Pasini D, Cloos PA, Walfridsson J, Olsson L, Bukowski JP, Johansen JV, Bak M, Tommerup N, Rappsilber J, Helin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "20075857", "url": "https://glygen.org/publication/PubMed/20075857" } ] }, { "title": "Jarid2 and PRC2, partners in regulating gene expression.", "journal": "Genes & development", "date": "2010", "authors": "Li G, Margueron R, Ku M, Chambon P, Bernstein BE, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "20123894", "url": "https://glygen.org/publication/PubMed/20123894" } ] }, { "title": "Characterization of hNek6 interactome reveals an important role for its short N-terminal domain and colocalization with proteins at the centrosome.", "journal": "J. Proteome Res.", "date": "2010", "authors": "Vaz Meirelles G, Ferreira Lanza DC, da Silva JC, Santana Bernachi J, Paes Leme AF, Kobarg J", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" } ], "reference": [ { "type": "PubMed", "id": "20873783", "url": "https://glygen.org/publication/PubMed/20873783" } ] }, { "title": "A chromatin localization screen reveals poly (ADP ribose)-regulated recruitment of the repressive polycomb and NuRD complexes to sites of DNA damage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Chou DM, Adamson B, Dephoure NE, Tan X, Nottke AC, Hurov KE, Gygi SP, Colaiacovo MP, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "20937877", "url": "https://glygen.org/publication/PubMed/20937877" } ] }, { "title": "Binding of different histone marks differentially regulates the activity and specificity of polycomb repressive complex 2 (PRC2).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Xu C, Bian C, Yang W, Galka M, Ouyang H, Chen C, Qiu W, Liu H, Jones AE, MacKenzie F, Pan P, Li SS, Wang H, Min J", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "20974918", "url": "https://glygen.org/publication/PubMed/20974918" } ] }, { "title": "GC-rich sequence elements recruit PRC2 in mammalian ES cells.", "journal": "PLoS genetics", "date": "2010", "authors": "Mendenhall EM, Koche RP, Truong T, Zhou VW, Issac B, Chi AS, Ku M, Bernstein BE", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "21170310", "url": "https://glygen.org/publication/PubMed/21170310" } ] }, { "title": "Mutation of A677 in histone methyltransferase EZH2 in human B-cell lymphoma promotes hypertrimethylation of histone H3 on lysine 27 (H3K27).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "McCabe MT, Graves AP, Ganji G, Diaz E, Halsey WS, Jiang Y, Smitheman KN, Ott HM, Pappalardi MB, Allen KE, Chen SB, Della Pietra A 3rd, Dul E, Hughes AM, Gilbert SA, Thrall SH, Tummino PJ, Kruger RG, Brandt M, Schwartz B, Creasy CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "22323599", "url": "https://glygen.org/publication/PubMed/22323599" } ] }, { "title": "Sequential ChIP-bisulfite sequencing enables direct genome-scale investigation of chromatin and DNA methylation cross-talk.", "journal": "Genome research", "date": "2012", "authors": "Brinkman AB, Gu H, Bartels SJ, Zhang Y, Matarese F, Simmer F, Marks H, Bock C, Gnirke A, Meissner A, Stunnenberg HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "22466170", "url": "https://glygen.org/publication/PubMed/22466170" } ] }, { "title": "Novel fusion of MYST/Esa1-associated factor 6 and PHF1 in endometrial stromal sarcoma.", "journal": "PLoS ONE", "date": "2012", "authors": "Panagopoulos Ioannis, Micci Francesca, Thorsen Jim, Gorunova Ludmila, Eibak Anne Mette, Bjerkehagen Bodil, Davidson Ben, Heim Sverre", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" } ], "reference": [ { "type": "PubMed", "id": "22761769", "url": "https://glygen.org/publication/PubMed/22761769" } ] }, { "title": "Molecular basis for H3K36me3 recognition by the Tudor domain of PHF1.", "journal": "Nature structural & molecular biology", "date": "2012", "authors": "Musselman CA, Avvakumov N, Watanabe R, Abraham CG, Lalonde ME, Hong Z, Allen C, Roy S, Nunez JK, Nickoloff J, Kulesza CA, Yasui A, Cote J, Kutateladze TG", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" } ], "reference": [ { "type": "PubMed", "id": "23142980", "url": "https://glygen.org/publication/PubMed/23142980" } ] }, { "title": "Polycomb group protein PHF1 regulates p53-dependent cell growth arrest and apoptosis.", "journal": "The Journal of biological chemistry", "date": "2013-01-04", "authors": "Yang Yang, Wang Chenji, Zhang Pingzhao, Gao Kun, Wang Dejie, Yu Hongxiu, Zhang Ting, Jiang Sirui, Hexige Saiyin, Hong Zehui, Yasui Akira, Liu Jun O, Huang Haojie, Yu Long", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" } ], "reference": [ { "type": "PubMed", "id": "23150668", "url": "https://glygen.org/publication/PubMed/23150668" } ] }, { "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": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" }, { "database": "iPTMnet", "id": "O43189", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43189" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Tudor domains of the PRC2 components PHF1 and PHF19 selectively bind to histone H3K36me3.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2013", "authors": "Qin Su, Guo Yahong, Xu Chao, Bian Chuanbing, Fu Minfei, Gong Sarah, Min Jinrong", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" } ], "reference": [ { "type": "PubMed", "id": "23228662", "url": "https://glygen.org/publication/PubMed/23228662" } ] }, { "title": "An H3K36 methylation-engaging Tudor motif of polycomb-like proteins mediates PRC2 complex targeting.", "journal": "Molecular cell", "date": "2013", "authors": "Cai L, Rothbart SB, Lu R, Xu B, Chen WY, Tripathy A, Rockowitz S, Zheng D, Patel DJ, Allis CD, Strahl BD, Song J, Wang GG", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" } ], "reference": [ { "type": "PubMed", "id": "23273982", "url": "https://glygen.org/publication/PubMed/23273982" } ] }, { "title": "Coordinate regulation of DNA methylation and H3K27me3 in mouse embryonic stem cells.", "journal": "PloS one", "date": "2013", "authors": "Hagarman JA, Motley MP, Kristjansdottir K, Soloway PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "23326524", "url": "https://glygen.org/publication/PubMed/23326524" } ] }, { "title": "Noncoding RNA and Polycomb recruitment.", "journal": "RNA (New York, N.Y.)", "date": "2013", "authors": "Brockdorff N", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "23431328", "url": "https://glygen.org/publication/PubMed/23431328" } ] }, { "title": "Convergent evolution of chromatin modification by structurally distinct enzymes: comparative enzymology of histone H3 Lys(2)(7) methylation by human polycomb repressive complex 2 and vSET.", "journal": "The Biochemical journal", "date": "2013", "authors": "Swalm BM, Hallenbeck KK, Majer CR, Jin L, Scott MP, Moyer MP, Copeland RA, Wigle TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "23679895", "url": "https://glygen.org/publication/PubMed/23679895" } ] }, { "title": "Dnmt3L antagonizes DNA methylation at bivalent promoters and favors DNA methylation at gene bodies in ESCs.", "journal": "Cell", "date": "2013", "authors": "Neri F, Krepelova A, Incarnato D, Maldotti M, Parlato C, Galvagni F, Matarese F, Stunnenberg HG, Oliviero S", "evidence": [ { "database": "Reactome", "id": "R-HSA-212300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212300" } ], "reference": [ { "type": "PubMed", "id": "24074865", "url": "https://glygen.org/publication/PubMed/24074865" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43189", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43189" }, { "database": "O-GlcNAc Atlas", "id": "O43189", "url": "https://oglcnac.org/atlas/detail/O43189" }, { "database": "GlyGen", "id": "GLY_000142", "url": "https://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O43189", "url": "https://oglcnac.org/atlas/detail/O43189" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "title": "Primary malignant ossifying fibromyxoid tumour of the bone. A clinicopathologic and molecular report of two cases.", "journal": "Pathologica", "date": "2020", "authors": "Sbaraglia M, Bellan E, Gambarotti M, Righi A, Zanatta L, Toffolatti L, Dei Tos AP", "evidence": [ { "database": "RefSeq", "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" } ], "reference": [ { "type": "PubMed", "id": "33179613", "url": "https://glygen.org/publication/PubMed/33179613" } ] }, { "title": "A PHF1-TFE3 fusion atypical ossifying fibromyxoid tumor with prominent collagenous rosettes: Case report with a brief review.", "journal": "Experimental and molecular pathology", "date": "2021", "authors": "Zou C, Ru GQ, Zhao M", "evidence": [ { "database": "RefSeq", "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" } ], "reference": [ { "type": "PubMed", "id": "34560087", "url": "https://glygen.org/publication/PubMed/34560087" } ] }, { "title": "When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion.", "journal": "Genes, chromosomes & cancer", "date": "2024-01", "authors": "Sharma Aarti E, Dermawan Josephine K, Sherrod Andy E, Chopra Shefali, Maki Robert G, Antonescu Cristina R", "evidence": [ { "database": "RefSeq", "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627" } ], "reference": [ { "type": "PubMed", "id": "37819540", "url": "https://glygen.org/publication/PubMed/37819540" } ] }, { "title": "The identification and localization of a human gene with sequence similarity to Polycomblike of Drosophila melanogaster.", "journal": "Genomics", "date": "1998", "authors": "Coulson M, Robert S, Eyre HJ, Saint R", "evidence": [ { "database": "UniProtKB", "id": "O43189", "url": "https://www.uniprot.org/uniprot/O43189" } ], "reference": [ { "type": "PubMed", "id": "9545646", "url": "https://glygen.org/publication/PubMed/9545646" } ] } ], "pathway": [ { "id": "hsa:5252", "name": "", "url": 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