{ "uniprot_canonical_ac": "P12004-1", "uniprot_ac": "P12004", "uniprot_id": "PCNA_HUMAN", "mass": { "chemical_mass": 28769.0, "monoisotopic_mass": 28769.0 }, "refseq": { "ac": "NP_002583", "name": "proliferating cell nuclear antigen", "summary": "The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583" }, "gene_names": [ { "name": "PCNA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12004", "id": "P12004" }, { "name": "ATLD2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583", "id": "NP_002583" }, { "name": "PCNA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583", "id": "NP_002583" } ], "protein_names": [ { "name": "Proliferating cell nuclear antigen", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12004" }, { "name": "Cyclin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12004" }, { "name": "PCNA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12004" }, { "name": "cyclin; DNA polymerase delta auxiliary protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583", "id": "NP_002583" }, { "name": "proliferating cell nuclear antigen", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583", "id": "NP_002583" } ], "function": [ { "annotation": "A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_002583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583" }, { "database": "PubMed", "id": "36990216", "url": "https://glygen.org/publication/PubMed/36990216" } ] }, { "annotation": "Auxiliary protein of DNA polymerase delta and epsilon, is involved in the control of eukaryotic DNA replication by increasing the polymerase's processibility during elongation of the leading strand (PubMed:35585232). Induces a robust stimulatory effect on the 3'-5' exonuclease and 3'-phosphodiesterase, but not apurinic-apyrimidinic (AP) endonuclease, APEX2 activities. Has to be loaded onto DNA in order to be able to stimulate APEX2. Plays a key role in DNA damage response (DDR) by being conveniently positioned at the replication fork to coordinate DNA replication with DNA repair and DNA damage tolerance pathways (PubMed:24939902). Acts as a loading platform to recruit DDR proteins that allow completion of DNA replication after DNA damage and promote postreplication repair: Monoubiquitinated PCNA leads to recruitment of translesion (TLS) polymerases, while 'Lys-63'-linked polyubiquitination of PCNA is involved in error-free pathway and employs recombination mechanisms to synthesize across the lesion (PubMed:24695737).", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004#function" }, { "database": "PubMed", "id": "19443450", "url": "https://glygen.org/publication/PubMed/19443450" }, { "database": "PubMed", "id": "24939902", "url": "https://glygen.org/publication/PubMed/24939902" }, { "database": "PubMed", "id": "18719106", "url": "https://glygen.org/publication/PubMed/18719106" }, { "database": "PubMed", "id": "24695737", "url": "https://glygen.org/publication/PubMed/24695737" }, { "database": "PubMed", "id": "35585232", "url": "https://glygen.org/publication/PubMed/35585232" } ] }, { "annotation": "FANCD2-dependent mitotic DNA synthesis relies on PCNA K164 ubiquitination.", "evidence": [ { "database": "RefSeq", "id": "NP_002583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583" }, { "database": "PubMed", "id": "38060446", "url": "https://glygen.org/publication/PubMed/38060446" } ] }, { "annotation": "G-CSF reshapes the cytosolic PCNA scaffold and modulates glycolysis in neutrophils.", "evidence": [ { "database": "RefSeq", "id": "NP_002583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583" }, { "database": "PubMed", "id": "37824822", "url": "https://glygen.org/publication/PubMed/37824822" } ] }, { "annotation": "Short-range end resection requires ATAD5-mediated PCNA unloading for faithful homologous recombination.", "evidence": [ { "database": "RefSeq", "id": "NP_002583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583" }, { "database": "PubMed", "id": "37739427", "url": "https://glygen.org/publication/PubMed/37739427" } ] }, { "annotation": "The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583" } ] }, { "annotation": "Ubiquitin specific peptidase 37 and PCNA interaction promotes osteosarcoma pathogenesis by modulating replication fork progression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002583" }, { "database": "PubMed", "id": "37118828", "url": "https://glygen.org/publication/PubMed/37118828" } ] } ], "disease": [ { "disease_id": "DOID:0081385", "recommended_name": { "id": "DOID:0081385", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081385", "name": "ataxia-telangiectasia-like disorder-2", "description": "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12." }, "synonyms": [ { "id": "DOID:0081385", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081385", "name": "PCNA-related progressive neurodegenerative photosensitivity syndrome", "description": "" }, { "id": "MONDO:0014399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014399", "name": "ataxia-telangiectasia-like disorder 2", "description": "" }, { "id": "MONDO:0014399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014399", "name": "ataxia-telangiectasia-like disorder 2", "description": "" }, { "id": "MONDO:0014399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014399", "name": "ataxia-telangiectasia-like disorder type 2", "description": "" }, { "id": "MONDO:0014399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014399", "name": "ATLD2", "description": "" }, { "id": "MONDO:0014399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014399", "name": "PCNA-related progressive neurodegenerative photosensitivity syndrome", "description": "" }, { "id": "MIM:615919", "resource": "MIM", "url": "https://www.omim.org/entry/615919", "name": "Ataxia-telangiectasia-like disorder 2", "description": "Ataxia-telangiectasia-like disorder 2" } ], "evidence": [ { "id": "615919", "database": "MIM", "url": "https://www.omim.org/entry/615919" } ] } ], "snv": [ { "evidence": [ { "id": "rs1435159800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1435159800" }, { "id": "rs1435159800", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1435159800" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "20", "chr_pos": "5119770", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12004", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12004" }, { "id": "rs915271779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915271779" }, { "id": "rs915271779", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915271779" }, { "id": "rs915271779", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs915271779#frequency_tab" }, { "id": "rs915271779", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915271779" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 179, "end_pos": 179, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NGN->NGS).", "chr_id": "20", "chr_pos": "5117516", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N179", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P12004", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12004" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 228, "end_pos": 228, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SMS->NMS).", "chr_id": "20", "chr_pos": "5115472", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S228", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P12004", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12004" }, { "id": "rs141842220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141842220" }, { "id": "rs141842220", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141842220" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 67, "end_pos": 67, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "20", "chr_pos": "5119600", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A67", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1412088718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412088718" }, { "id": "rs1412088718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1412088718#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 74, "end_pos": 74, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SMS->NMS).", "chr_id": "20", "chr_pos": "5119578", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S74", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 125, "end_pos": 128, "sequence_org": "QLGI", "sequence_mut": "AAAA", "comment": "Strong decrease in POLD3-binding. Impairs binding to ALKBH2.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "11595739", "url": "https://glygen.org/publication/PubMed/11595739" }, { "database": "PubMed", "id": "26408825", "url": "https://glygen.org/publication/PubMed/26408825" } ] }, { "start_pos": 128, "end_pos": 128, "sequence_org": "I", "sequence_mut": "A", "comment": "Complete loss of interaction with UHRF2.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "11595739", "url": "https://glygen.org/publication/PubMed/11595739" } ] }, { "start_pos": 13, "end_pos": 13, "sequence_org": "K", "sequence_mut": "R", "comment": "Inhibits acetylation, recruitment to DNA damage sites, inducible ubiquitination and protein degradation, DNA replication and repair synthesis efficiencies, but homotrimer formation, nuclear recruitment to DNA damage sites, interactions with CREBBP, EP300 and POLD1 are similar as the wild-type; in association with R-14; R-20; R-77 and R-80.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "24939902", "url": "https://glygen.org/publication/PubMed/24939902" } ] }, { "start_pos": 14, "end_pos": 14, "sequence_org": "K", "sequence_mut": "R", "comment": "Inhibits acetylation, recruitment to DNA damage sites, inducible ubiquitination and protein degradation, DNA replication and repair synthesis efficiencies, but homotrimer formation, nuclear recruitment to DNA damage sites, interactions with CREBBP, EP300 and POLD1 are similar as the wild-type; in association with R-13; R-20; R-77 and R-80.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "24939902", "url": "https://glygen.org/publication/PubMed/24939902" } ] }, { "start_pos": 164, "end_pos": 164, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes ubiquitination. No effect on interaction with SHPRH.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "17108083", "url": "https://glygen.org/publication/PubMed/17108083" }, { "database": "PubMed", "id": "18719106", "url": "https://glygen.org/publication/PubMed/18719106" }, { "database": "PubMed", "id": "17130289", "url": "https://glygen.org/publication/PubMed/17130289" }, { "database": "PubMed", "id": "20129063", "url": "https://glygen.org/publication/PubMed/20129063" } ] }, { "start_pos": 188, "end_pos": 190, "sequence_org": "VDK", "sequence_mut": "AAA", "comment": "No effect on POLD3-binding. No effect on ALKBH2-binding.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "11595739", "url": "https://glygen.org/publication/PubMed/11595739" }, { "database": "PubMed", "id": "26408825", "url": "https://glygen.org/publication/PubMed/26408825" } ] }, { "start_pos": 20, "end_pos": 20, "sequence_org": "K", "sequence_mut": "R", "comment": "Inhibits acetylation, recruitment to DNA damage sites, inducible ubiquitination and protein degradation, DNA replication and repair synthesis efficiencies, but homotrimer formation, nuclear recruitment to DNA damage sites, interactions with CREBBP, EP300 and POLD1 are similar as the wild-type; in association with R-13; R-14; R-77 and R-80.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "24939902", "url": "https://glygen.org/publication/PubMed/24939902" } ] }, { "start_pos": 211, "end_pos": 211, "sequence_org": "Y", "sequence_mut": "F", "comment": "Alters chromatin-associated PCNA stability and its function in DNA replication and repair.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "17115032", "url": "https://glygen.org/publication/PubMed/17115032" } ] }, { "start_pos": 250, "end_pos": 250, "sequence_org": "Y", "sequence_mut": "A", "comment": "Complete loss of interaction with UHRF2.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "11595739", "url": "https://glygen.org/publication/PubMed/11595739" } ] }, { "start_pos": 251, "end_pos": 254, "sequence_org": "LAPK", "sequence_mut": "AAAA", "comment": "Decrease in POLD3-binding.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "11595739", "url": "https://glygen.org/publication/PubMed/11595739" } ] }, { "start_pos": 252, "end_pos": 252, "sequence_org": "A", "sequence_mut": "G", "comment": "Complete loss of interaction with UHRF2.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "11595739", "url": "https://glygen.org/publication/PubMed/11595739" } ] }, { "start_pos": 40, "end_pos": 40, "sequence_org": "M", "sequence_mut": "A", "comment": "Complete loss of interaction with UHRF2.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "11595739", "url": "https://glygen.org/publication/PubMed/11595739" } ] }, { "start_pos": 43, "end_pos": 45, "sequence_org": "SHV", "sequence_mut": "AAA", "comment": "No effect on POLD3-binding. Impairs binding to ALKBH2.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "11595739", "url": "https://glygen.org/publication/PubMed/11595739" }, { "database": "PubMed", "id": "26408825", "url": "https://glygen.org/publication/PubMed/26408825" } ] }, { "start_pos": 77, "end_pos": 77, "sequence_org": "K", "sequence_mut": "A", "comment": "Inhibits recruitment to DNA damage sites, but nuclear localization is similar as the wild-type; in association with A-80.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "24939902", "url": "https://glygen.org/publication/PubMed/24939902" } ] }, { "start_pos": 77, "end_pos": 77, "sequence_org": "K", "sequence_mut": "R", "comment": "Inhibits acetylation, recruitment to DNA damage sites, inducible ubiquitination and protein degradation, DNA replication and repair synthesis efficiencies, but homotrimer formation, nuclear recruitment to DNA damage sites, interactions with CREBBP, EP300 and POLD1 are similar as the wild-type; in association with R-13; R-14; R-20 and R-80.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "24939902", "url": "https://glygen.org/publication/PubMed/24939902" } ] }, { "start_pos": 80, "end_pos": 80, "sequence_org": "K", "sequence_mut": "A", "comment": "Inhibits recruitment to DNA damage sites, but nuclear localization is similar as the wild-type; in association with A-77.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "24939902", "url": "https://glygen.org/publication/PubMed/24939902" } ] }, { "start_pos": 80, "end_pos": 80, "sequence_org": "K", "sequence_mut": "R", "comment": "Inhibits acetylation, recruitment to DNA damage sites, inducible ubiquitination and protein degradation, DNA replication and repair synthesis efficiencies, but homotrimer formation, nuclear recruitment to DNA damage sites, interactions with CREBBP, EP300 and POLD1 are similar as the wild-type; in association with R-13; R-14; R-20 and R-77.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "24939902", "url": "https://glygen.org/publication/PubMed/24939902" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "96.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "70.83", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "96.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "87.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132646", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132646" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12004", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12004" } ], "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": 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"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 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"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, 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}, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12004", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12004" } ], "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", 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"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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P12004", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12004" } ], "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 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"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 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P12004", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12004" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12004" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P12004", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12004" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P12004", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12004" } ], "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": "P12004", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12004" } ], "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": "P12004", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12004" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12004" } ], "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": "P12004", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12004" } ], "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 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Replication factor C displaces DNA polymerase alpha prior to PCNA loading.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Maga G, Stucki M, Spadari S, Hubscher U", "evidence": [ { "database": "Reactome", "id": "R-HSA-69091", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69091" } ], "reference": [ { "type": "PubMed", "id": "10656791", "url": "https://glygen.org/publication/PubMed/10656791" } ] }, { "title": "DNA polymerase switching: II. Replication factor C abrogates primer synthesis by DNA polymerase alpha at a critical length.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Mossi R, Keller RC, Ferrari E, Hubscher U", "evidence": [ { "database": "Reactome", "id": "R-HSA-69091", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69091" } ], "reference": [ { "type": "PubMed", "id": "10656792", "url": "https://glygen.org/publication/PubMed/10656792" } ] }, { "title": "The role of mismatched nucleotides in activating the hMSH2-hMSH6 molecular switch.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Gradia S, Acharya S, Fishel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5358565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5358565" } ], "reference": [ { "type": "PubMed", "id": "10660545", "url": "https://glygen.org/publication/PubMed/10660545" } ] }, { "title": "A human REV7 homolog that interacts with the polymerase zeta catalytic subunit hREV3 and the spindle assembly checkpoint protein hMAD2.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Murakumo Y, Roth T, Ishii H, Rasio D, Numata S, Croce CM, Fishel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-110312", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110312" } ], "reference": [ { "type": "PubMed", "id": "10660610", "url": "https://glygen.org/publication/PubMed/10660610" } ] }, { "title": "Cdk2-dependent and -independent pathways in E2F-mediated S phase induction.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Arata Y, Fujita M, Ohtani K, Kijima S, Kato JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10692433", "url": "https://glygen.org/publication/PubMed/10692433" } ] }, { "title": "Mechanism whereby proliferating cell nuclear antigen stimulates flap endonuclease 1.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Tom S, Henricksen LA, Bambara RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5651801", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5651801" } ], "reference": [ { "type": "PubMed", "id": "10744741", "url": "https://glygen.org/publication/PubMed/10744741" } ] }, { "title": "Identification of a fourth subunit of mammalian DNA polymerase delta.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Liu L, Mo J, Rodriguez-Belmonte EM, Lee MY", "evidence": [ { "database": "Reactome", "id": "R-HSA-69091", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69091" } ], "reference": [ { "type": "PubMed", "id": "10751307", "url": "https://glygen.org/publication/PubMed/10751307" } ] }, { "title": "SUMO-1 conjugation to topoisomerase I: A possible repair response to topoisomerase-mediated DNA damage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Mao Y, Sun M, Desai SD, Liu LF", "evidence": [ { "database": "Reactome", "id": "R-HSA-4615885", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4615885" } ], "reference": [ { "type": "PubMed", "id": "10759568", "url": "https://glygen.org/publication/PubMed/10759568" } ] }, { "title": "The function of the human homolog of Saccharomyces cerevisiae REV1 is required for mutagenesis induced by UV light.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Gibbs PE, Wang XD, Li Z, McManus TP, McGregor WG, Lawrence CW, Maher VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-110312", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110312" } ], "reference": [ { "type": "PubMed", "id": "10760286", "url": "https://glygen.org/publication/PubMed/10760286" } ] }, { "title": "Low fidelity DNA synthesis by human DNA polymerase-eta.", "journal": "Nature", "date": "2000", "authors": "Matsuda T, Bebenek K, Masutani C, Hanaoka F, Kunkel TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-110320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110320" } ], "reference": [ { "type": "PubMed", "id": "10801132", "url": "https://glygen.org/publication/PubMed/10801132" } ] }, { "title": "Mechanisms of accurate translesion synthesis by human DNA polymerase eta.", "journal": "The EMBO journal", "date": "2000", "authors": "Masutani C, Kusumoto R, Iwai S, Hanaoka F", "evidence": [ { "database": "Reactome", "id": "R-HSA-110320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110320" } ], "reference": [ { "type": "PubMed", "id": "10856253", "url": "https://glygen.org/publication/PubMed/10856253" } ] }, { "title": "SUMO-1 conjugation to human DNA topoisomerase II isozymes.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Mao Y, Desai SD, Liu LF", "evidence": [ { "database": "Reactome", "id": "R-HSA-4615885", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4615885" } ], "reference": [ { "type": "PubMed", "id": "10862613", "url": "https://glygen.org/publication/PubMed/10862613" } ] }, { "title": "Error-prone bypass of certain DNA lesions by the human DNA polymerase kappa.", "journal": "Genes & development", "date": "2000", "authors": "Ohashi E, Ogi T, Kusumoto R, Iwai S, Masutani C, Hanaoka F, Ohmori H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655862", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655862" } ], "reference": [ { "type": "PubMed", "id": "10887153", "url": "https://glygen.org/publication/PubMed/10887153" } ] }, { "title": "Mismatch recognition and DNA-dependent stimulation of the ATPase activity of hMutSalpha is abolished by a single mutation in the hMSH6 subunit.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Dufner P, Marra G, Raschle M, Jiricny J", "evidence": [ { "database": 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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5656121" } ], "reference": [ { "type": "PubMed", "id": "10984059", "url": "https://glygen.org/publication/PubMed/10984059" } ] }, { "title": "Functional interaction of proliferating cell nuclear antigen with MSH2-MSH6 and MSH2-MSH3 complexes.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Clark AB, Valle F, Drotschmann K, Gary RK, Kunkel TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5358565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5358565" } ], "reference": [ { "type": "PubMed", "id": "11005803", "url": "https://glygen.org/publication/PubMed/11005803" } ] }, { "title": "Fidelity and processivity of DNA synthesis by DNA polymerase kappa, the product of the human DINB1 gene.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ohashi E, Bebenek K, Matsuda T, Feaver WJ, Gerlach VL, Friedberg EC, Ohmori H, Kunkel TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5656169", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5656169" } ], "reference": [ { "type": "PubMed", "id": "11006276", "url": "https://glygen.org/publication/PubMed/11006276" } ] }, { "title": "Error-free and error-prone lesion bypass by human DNA polymerase kappa in vitro.", "journal": "Nucleic acids research", "date": "2000", "authors": "Zhang Y, Yuan F, Wu X, Wang M, Rechkoblit O, Taylor JS, Geacintov NE, Wang Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5655862", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655862" } ], "reference": [ { "type": "PubMed", "id": "11058110", "url": "https://glygen.org/publication/PubMed/11058110" } ] }, { "title": "Human DNA polymerase beta initiates DNA synthesis during long-patch repair of reduced AP sites in DNA.", "journal": "The EMBO journal", "date": "2001", "authors": "Podlutsky AJ, Dianova II, Podust VN, Bohr VA, Dianov GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5651801", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5651801" } ], "reference": [ { "type": "PubMed", "id": "11250913", "url": "https://glygen.org/publication/PubMed/11250913" } ] }, { "title": "hMSH3 and hMSH6 interact with PCNA and colocalize with it to replication foci.", "journal": "Genes & development", "date": "2001", "authors": "Kleczkowska HE, Marra G, Lettieri T, Jiricny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5358565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5358565" } ], "reference": [ { "type": "PubMed", "id": "11274057", "url": "https://glygen.org/publication/PubMed/11274057" } ] }, { "title": "Human APE2 protein is mostly localized in the nuclei and to some extent in the mitochondria, while nuclear APE2 is partly associated with proliferating cell nuclear antigen.", "journal": "Nucleic Acids Res.", "date": "2001", "authors": "Tsuchimoto D, Sakai Y, Sakumi K, Nishioka K, Sasaki M, Fujiwara T, Nakabeppu Y", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "reference": [ { "type": "PubMed", "id": "11376153", "url": "https://glygen.org/publication/PubMed/11376153" } ] }, { "title": "DNA chain length dependence of formation and dynamics of hMutSalpha.hMutLalpha.heteroduplex complexes.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Blackwell LJ, Wang S, Modrich P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5358565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5358565" } ], "reference": [ { "type": "PubMed", "id": "11441019", "url": "https://glygen.org/publication/PubMed/11441019" } ] }, { "title": "RPA governs endonuclease switching during processing of Okazaki fragments in eukaryotes.", "journal": "Nature", "date": "2001", "authors": "Bae SH, Bae KH, Kim JA, Seo YS", "evidence": [ { "database": "Reactome", "id": "R-HSA-69166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69166" } ], "reference": [ { "type": "PubMed", "id": "11473323", "url": "https://glygen.org/publication/PubMed/11473323" } ] }, { "title": "Interactions in the error-prone postreplication repair proteins hREV1, hREV3, and hREV7.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Murakumo Y, Ogura Y, Ishii H, Numata S, Ichihara M, Croce CM, Fishel R, Takahashi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-110312", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110312" } ], "reference": [ { "type": "PubMed", "id": "11485998", "url": "https://glygen.org/publication/PubMed/11485998" } ] }, { "title": "The G2/M regulator 14-3-3sigma prevents apoptosis through sequestration of Bax.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Samuel T, Weber HO, Rauch P, Verdoodt B, Eppel JT, McShea A, Hermeking H, Funk JO", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804114", "url": 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"Dianova II, Bohr VA, Dianov GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5651801", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5651801" } ], "reference": [ { "type": "PubMed", "id": "11601988", "url": "https://glygen.org/publication/PubMed/11601988" } ] }, { "title": "Defective flap endonuclease 1 activity in mammalian cells is associated with impaired DNA repair and prolonged S phase delay.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Shibata Y, Nakamura T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5651801", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5651801" } ], "reference": [ { "type": "PubMed", "id": "11687589", "url": "https://glygen.org/publication/PubMed/11687589" } ] }, { "title": "Mechanism underlying replication protein a stimulation of DNA ligase I.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ranalli TA, DeMott MS, Bambara RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5358565", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5358565" } ], "reference": [ { "type": "PubMed", "id": "11698410", "url": "https://glygen.org/publication/PubMed/11698410" } ] }, { "title": "Nucleolar delocalization of human topoisomerase I in response to topotecan correlates with sumoylation of the protein.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Mo YY, Yu Y, Shen Z, Beck WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-4615885", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4615885" } ], "reference": [ { "type": "PubMed", "id": "11709553", "url": "https://glygen.org/publication/PubMed/11709553" } ] }, { "title": "Okazaki fragment processing: modulation of the strand displacement activity of DNA polymerase delta by the concerted action of replication protein A, proliferating cell nuclear antigen, and flap endonuclease-1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Maga G, Villani G, Tillement V, Stucki M, Locatelli GA, Frouin I, Spadari S, Hubscher U", "evidence": [ { "database": "Reactome", "id": "R-HSA-69166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69166" } ], "reference": [ { "type": "PubMed", "id": "11724925", "url": "https://glygen.org/publication/PubMed/11724925" } ] }, { "title": "The AAA ATPase Cdc48/p97 and its partners transport proteins from the ER into the cytosol.", "journal": "Nature", "date": "2001", "authors": "Ye Y, Meyer HH, Rapoport TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "11740563", "url": "https://glygen.org/publication/PubMed/11740563" } ] }, { "title": "Stimulation of DNA synthesis activity of human DNA polymerase kappa by PCNA.", "journal": "Mol. 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}, { "id": "R-HSA-8866654", "name": "E3 ubiquitin ligases ubiquitinate target proteins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654", "resource": "Reactome", "description": "E3 ubiquitin ligases ubiquitinate target proteins" } ], "orthologs": [ { "uniprot_canonical_ac": "P04961-1", "protein_name": "Proliferating cell nuclear antigen", "gene_name": "Pcna", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MFEARLIQGSILKKVLEALKDLINEACWDISSGGVNLQSMDSSHVSLVQLTLRSEGFDTYRCDRNLAMGVNLTSMSKILKCAGNEDIITLRAEDNADTLALVFEAPNQEKVSDYEMKLMDLDVEQLGIPEQEYSCVVKMPSGEFARICRDLSHIGDAVVISCAKDGVKFSASGELGNGNIKLSQTSNVDKEEEAVSIEMNEPVQLTFALRYLNFFTKATPLSPTVTLSMSADVPLVVEYKIADMGHLKYYLAPKIEDEEGS", "length": 261 }, "evidence": [ { "id": "45917211", "url": "http://www.informatics.jax.org/homology/45917211", "database": "MGI" }, { "id": "P12004", "url": "https://omabrowser.org/oma/group/P12004/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P15873-1", "protein_name": "Proliferating cell nuclear antigen", "gene_name": "POL30", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MLEAKFEEASLFKRIIDGFKDCVQLVNFQCKEDGIIAQAVDDSRVLLVSLEIGVEAFQEYRCDHPVTLGMDLTSLSKILRCGNNTDTLTLIADNTPDSIILLFEDTKKDRIAEYSLKLMDIDADFLKIEELQYDSTLSLPSSEFSKIVRDLSQLSDSINIMITKETIKFVADGDIGSGSVIIKPFVDMEHPETSIKLEMDQPVDLTFGAKYLLDIIKGSSLSDRVGIRLSSEAPALFQFDLKSGFLQFFLAPKFNDEE", "length": 258 }, "evidence": [ { "id": "P12004", "url": "https://omabrowser.org/oma/group/P12004/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P17917-1", "protein_name": "Proliferating cell nuclear antigen", "gene_name": "PCNA", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MFEARLGQATILKKILDAIKDLLNEATFDCSDSGIQLQAMDNSHVSLVSLTLRSDGFDKFRCDRNLSMGMNLGSMAKILKCANNEDNVTMKAQDNADTVTIMFESANQEKVSDYEMKLMNLDQEHLGIPETDFSCVVRMPAMEFARICRDLAQFSESVVICCTKEGVKFSASGDVGTANIKLAQTGSVDKEEEAVIIEMQEPVTLTFACRYLNAFTKATPLSTQVQLSMCADVPLVVEYAIKDLGHIRYYLAPKIEDNET", "length": 260 }, "evidence": [ { "id": "P12004", "url": "https://omabrowser.org/oma/group/P12004/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "P17918-1", "protein_name": "Proliferating cell nuclear antigen", "gene_name": "Pcna", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MFEARLIQGSILKKVLEALKDLINEACWDVSSGGVNLQSMDSSHVSLVQLTLRSEGFDTYRCDRNLAMGVNLTSMSKILKCAGNEDIITLRAEDNADTLALVFEAPNQEKVSDYEMKLMDLDVEQLGIPEQEYSCVIKMPSGEFARICRDLSHIGDAVVISCAKNGVKFSASGELGNGNIKLSQTSNVDKEEEAVTIEMNEPVHLTFALRYLNFFTKATPLSPTVTLSMSADVPLVVEYKIADMGHLKYYLAPKIEDEEAS", "length": 261 }, "evidence": [ { "id": "45917211", "url": "http://www.informatics.jax.org/homology/45917211", "database": "MGI" }, { "id": "P12004", "url": "https://omabrowser.org/oma/group/P12004/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 13, "go_terms": [ { "name": "DNA polymerase processivity factor activity", "id": "GO:0030337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030337", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "dinucleotide insertion or deletion binding", "id": "GO:0032139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032139", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "DNA polymerase binding", "id": "GO:0070182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070182", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "purine-specific mismatch base pair DNA N-glycosylase activity", "id": "GO:0000701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000701", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "MutLalpha complex binding", "id": "GO:0032405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032405", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "histone acetyltransferase binding", "id": "GO:0035035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035035", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 15, "go_terms": [ { "name": "replisome", "id": "GO:0030894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030894", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "PCNA complex", "id": "GO:0043626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043626", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "PCNA-p21 complex", "id": "GO:0070557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070557", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "nuclear replication fork", "id": "GO:0043596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043596", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "nuclear lamina", "id": "GO:0005652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005652", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "replication fork", "id": "GO:0005657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005657", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "cyclin-dependent protein kinase holoenzyme complex", "id": "GO:0000307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000307", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 22, "go_terms": [ { "name": "positive regulation of deoxyribonuclease activity", "id": "GO:0032077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032077", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "leading strand elongation", "id": "GO:0006272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006272", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "base-excision repair, gap-filling", "id": "GO:0006287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006287", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "mismatch repair", "id": "GO:0006298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006298", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "response to L-glutamate", "id": "GO:1902065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902065", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "translesion synthesis", "id": "GO:0019985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019985", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "positive regulation of DNA-directed DNA polymerase activity", "id": "GO:1900264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900264", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "mitotic telomere maintenance via semi-conservative replication", "id": "GO:1902990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902990", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "replication fork processing", "id": "GO:0031297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031297", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 71, "end_pos": 73, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Acetylated by CREBBP and p300/EP300; preferentially acetylated by CREBBP on Lys-80, Lys-13 and Lys-14 and on Lys-77 by p300/EP300 upon loading on chromatin in response to UV irradiation (PubMed:24939902, PubMed:19419956). Lysine acetylation disrupts association with chromatin, hence promoting PCNA ubiquitination and proteasomal degradation in response to UV damage in a CREBBP- and EP300-dependent manner (PubMed:24939902). Acetylation disrupts interaction with NUDT15 and promotes degradation (PubMed:19419956).", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "24939902", "url": "https://glygen.org/publication/PubMed/24939902" } ] }, { "annotation": "Methylated on glutamate residues by ARMT1/C6orf211.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "25732820", "url": "https://glygen.org/publication/PubMed/25732820" } ] }, { "annotation": "Phosphorylated. Phosphorylation at Tyr-211 by EGFR stabilizes chromatin-associated PCNA.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "17115032", "url": "https://glygen.org/publication/PubMed/17115032" } ] }, { "annotation": "Ubiquitinated (PubMed:24939902, PubMed:20227374). Following DNA damage, can be either monoubiquitinated to stimulate direct bypass of DNA lesions by specialized DNA polymerases or polyubiquitinated to promote recombination-dependent DNA synthesis across DNA lesions by template switching mechanisms. Following induction of replication stress, monoubiquitinated by the UBE2B-RAD18 complex on Lys-164, leading to recruit translesion (TLS) polymerases, which are able to synthesize across DNA lesions in a potentially error-prone manner. An error-free pathway also exists and requires non-canonical polyubiquitination on Lys-164 through 'Lys-63' linkage of ubiquitin moieties by the E2 complex UBE2N-UBE2V2 and the E3 ligases, HLTF, RNF8 and SHPRH. This error-free pathway, also known as template switching, employs recombination mechanisms to synthesize across the lesion, using as a template the undamaged, newly synthesized strand of the sister chromatid. Monoubiquitination at Lys-164 also takes place in undamaged proliferating cells, and is mediated by the DCX(DTL) complex, leading to enhance PCNA-dependent translesion DNA synthesis. Sumoylated during S phase.", "evidence": [ { "database": "UniProtKB", "id": "P12004", "url": "https://www.uniprot.org/uniprot/P12004" }, { "database": "PubMed", "id": "18316726", "url": "https://glygen.org/publication/PubMed/18316726" }, { "database": "PubMed", "id": "18948756", "url": "https://glygen.org/publication/PubMed/18948756" }, { "database": "PubMed", "id": "17108083", "url": "https://glygen.org/publication/PubMed/17108083" }, { "database": "PubMed", "id": "24939902", "url": "https://glygen.org/publication/PubMed/24939902" }, { "database": "PubMed", "id": "18719106", "url": "https://glygen.org/publication/PubMed/18719106" }, { "database": "PubMed", "id": "20227374", "url": "https://glygen.org/publication/PubMed/20227374" }, { "database": "PubMed", "id": "22153967", "url": "https://glygen.org/publication/PubMed/22153967" }, { "database": "PubMed", "id": "17130289", "url": "https://glygen.org/publication/PubMed/17130289" }, { "database": "PubMed", "id": "20129063", "url": 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