{ "uniprot_canonical_ac": "P0C0S8-1", "uniprot_ac": "P0C0S8", "uniprot_id": "H2A1_HUMAN", "mass": { "chemical_mass": 14091.0, "monoisotopic_mass": 14091.0 }, "refseq": { "ac": "NP_003500", "name": "histone H2A type 1", "summary": "Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003500" }, "gene_names": [ { "name": "H2AC11", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "H2AC13", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "H2AC15", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "H2AC16", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "H2AC17", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "H2A/c; H2AC11; H2AC15; H2AC16; H2AC17; H2AFC; HIST1H2AI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003500", "id": "NP_003500" }, { "name": "H2AC13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003500", "id": "NP_003500" }, { "name": "H2AFC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "H2AFD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "H2AFI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "H2AFN", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "H2AFP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "HIST1H2AG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "HIST1H2AI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "HIST1H2AK", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "HIST1H2AL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" }, { "name": "HIST1H2AM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S8", "id": "P0C0S8" } ], "protein_names": [ { "name": "Histone H2A type 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0C0S8" }, { "name": "H2A histone family, member C; histone 1, H2ai; H2A.1; histone cluster 1, H2ai; histone H2A/ptl; histone cluster 1 H2A family member i", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003500", "id": "NP_003500" }, { "name": "H2A.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C0S8" }, { "name": "Histone H2A/ptl", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C0S8" }, { "name": "histone H2A type 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003500", "id": "NP_003500" } ], "function": [ { "annotation": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S8", "url": "https://www.uniprot.org/uniprot/P0C0S8#function" } ] }, { "annotation": "Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_003500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003500" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1561940130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1561940130" }, { "id": "rs1561940130", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1561940130" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 100, "end_pos": 100, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "6", "chr_pos": "27865654", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1184927363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184927363" }, { "id": "rs1184927363", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1184927363#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 102, "end_pos": 102, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "27838036", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1434394422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434394422" }, { "id": "rs1434394422", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434394422" }, { "id": "rs1466682075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466682075" }, { "id": "rs1466682075", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1466682075#frequency_tab" }, { "id": "rs1293786934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293786934" }, { "id": "rs1293786934", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1293786934#frequency_tab" }, { "id": "rs1293786934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293786934" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 102, "end_pos": 102, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "27808514", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1293786934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1293786934" }, { "id": "rs1293786934", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1293786934#frequency_tab" }, { "id": "rs1293786934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1293786934" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 102, "end_pos": 102, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "6", "chr_pos": "27892845", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs551526680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551526680" }, { "id": "rs551526680", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs551526680" }, { "id": "rs551526680", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs551526680" }, { "id": "rs551526680", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs551526680" }, { "id": "rs1306405219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306405219" }, { "id": "rs1306405219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1306405219" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 119, "end_pos": 119, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "6", "chr_pos": "27837983", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "K119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs150544468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150544468" }, { "id": "rs150544468", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150544468" }, { "id": "rs150544468", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150544468#frequency_tab" }, { "id": "rs150544468", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150544468" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 17, "end_pos": 17, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TRS->NRS).", "chr_id": "6", "chr_pos": "27865404", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765198765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765198765" }, { "id": "rs765198765", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765198765" }, { "id": "rs765198765", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765198765#frequency_tab" }, { "id": "rs765198765", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765198765" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 41, "end_pos": 41, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYA->NYS).", "chr_id": "6", "chr_pos": "27133192", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A41", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765198765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765198765" }, { "id": "rs765198765", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765198765" }, { "id": "rs765198765", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765198765" }, { "id": "rs765198765", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765198765#frequency_tab" }, { "id": "rs765198765", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765198765" }, { "id": "rs769266771", 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"end_pos": 41, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYA->NYT).", "chr_id": "6", "chr_pos": "27133192", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A41", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756139434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756139434" }, { "id": "rs756139434", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756139434" }, { "id": "rs756139434", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756139434" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 58, "end_pos": 58, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YLT->NLT).", "chr_id": "6", "chr_pos": "27892978", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y58", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1312957027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312957027" }, { "id": "rs1312957027", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1312957027" }, { "id": "rs146210589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146210589" }, { "id": "rs146210589", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146210589" }, { "id": "rs146210589", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146210589" }, { "id": "rs146210589", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146210589#frequency_tab" }, { "id": "rs146210589", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146210589" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 71, "end_pos": 71, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "6", "chr_pos": "27865565", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A71", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 2, "end_pos": 2, "sequence_org": "S", "sequence_mut": "A", "comment": "Blocks the inhibition of transcription by RPS6KA5/MSK1.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S8", "url": "https://www.uniprot.org/uniprot/P0C0S8" }, { "database": "PubMed", "id": "15010469", "url": "https://glygen.org/publication/PubMed/15010469" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "45.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196747" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "43.25", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000196747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196747" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196747" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196747" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196747" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "70.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196747" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196747" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "26.06", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000196747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196747" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "33.02", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196747" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "62.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196747" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196747", 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"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": 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"https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": 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"BioXpress", "id": "P0C0S8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S8" } ], "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": 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P0C0S8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S8" } ], "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": "P0C0S8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S8" } ], "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": "P0C0S8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S8" } ], "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": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P0C0S8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S8" } ], "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": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P0C0S8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S8" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": 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"description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": 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corepressor required for regulation of neural-specific gene expression.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Andres ME, Burger C, Peral-Rubio MJ, Battaglioli E, Anderson ME, Grimes J, Dallman J, Ballas N, Mandel G", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "10449787", "url": "https://glygen.org/publication/PubMed/10449787" } ] }, { "title": "Cloning and characterization of a novel human class I histone deacetylase that functions as a transcription repressor.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hu E, Chen Z, Fredrickson T, Zhu Y, Kirkpatrick R, Zhang GF, Johanson K, Sung CM, Liu R, Winkler J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], 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characterization of a novel human histone deacetylase, HDAC8.", "journal": "The Biochemical journal", "date": "2000", "authors": "Buggy JJ, Sideris ML, Mak P, Lorimer DD, McIntosh B, Clark JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "10926844", "url": "https://glygen.org/publication/PubMed/10926844" } ] }, { "title": "A deubiquitinating enzyme UBPY interacts with the Src homology 3 domain of Hrs-binding protein via a novel binding motif PX(V/I)(D/N)RXXKP.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kato M, Miyazawa K, Kitamura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "10982817", "url": "https://glygen.org/publication/PubMed/10982817" } ] }, { "title": "Methylation of histone H3 by 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testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S8", "url": "https://www.uniprot.org/uniprot/P0C0S8" }, { "database": "PubMed", "id": "21925322", "url": "https://glygen.org/publication/PubMed/21925322" } ] }, { "annotation": "Deiminated on Arg-4 in granulocytes upon calcium entry.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S8", "url": "https://www.uniprot.org/uniprot/P0C0S8" }, { "database": "PubMed", "id": "15823041", "url": "https://glygen.org/publication/PubMed/15823041" } ] }, { "annotation": "Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).", "evidence": [ { "database": "UniProtKB", "id": "P0C0S8", "url": "https://www.uniprot.org/uniprot/P0C0S8" }, { "database": "PubMed", "id": "24352239", "url": "https://glygen.org/publication/PubMed/24352239" } ] }, { "annotation": "Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM37 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). H2AK119Ub and ionizing radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S8", "url": "https://www.uniprot.org/uniprot/P0C0S8" }, { "database": "PubMed", "id": "19203579", "url": "https://glygen.org/publication/PubMed/19203579" }, { "database": "PubMed", "id": "22980979", "url": "https://glygen.org/publication/PubMed/22980979" }, { "database": "PubMed", "id": "16359901", "url": "https://glygen.org/publication/PubMed/16359901" }, { "database": "PubMed", "id": "16702407", "url": "https://glygen.org/publication/PubMed/16702407" }, { "database": "PubMed", "id": "25470042", "url": "https://glygen.org/publication/PubMed/25470042" }, { "database": "PubMed", "id": "22713238", "url": "https://glygen.org/publication/PubMed/22713238" }, { "database": "PubMed", "id": "18001825", "url": "https://glygen.org/publication/PubMed/18001825" }, { "database": "PubMed", "id": "18001824", "url": "https://glygen.org/publication/PubMed/18001824" }, { "database": "PubMed", "id": "15386022", "url": "https://glygen.org/publication/PubMed/15386022" }, { "database": "PubMed", "id": "19203578", "url": "https://glygen.org/publication/PubMed/19203578" }, { "database": "PubMed", "id": "24352239", "url": "https://glygen.org/publication/PubMed/24352239" }, { "database": "PubMed", "id": "27083998", "url": "https://glygen.org/publication/PubMed/27083998" } ] }, { "annotation": "Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S8", "url": "https://www.uniprot.org/uniprot/P0C0S8" }, { "database": "PubMed", "id": "15823041", "url": "https://glygen.org/publication/PubMed/15823041" }, { "database": "PubMed", "id": "16457589", "url": "https://glygen.org/publication/PubMed/16457589" }, { "database": "PubMed", "id": "15078818", "url": "https://glygen.org/publication/PubMed/15078818" }, { "database": "PubMed", "id": "24140421", "url": "https://glygen.org/publication/PubMed/24140421" }, { "database": "PubMed", "id": "11709551", "url": "https://glygen.org/publication/PubMed/11709551" }, { "database": "PubMed", "id": "15010469", "url": "https://glygen.org/publication/PubMed/15010469" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 102 ], "snv_sites": [ 17, 41, 58, 71, 100, 102, 119 ], "glycation_sites": [], "phosphorylation_sites": [ 2, 121 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 170 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }