{ "uniprot_canonical_ac": "O15527-1", "uniprot_ac": "O15527", "uniprot_id": "OGG1_HUMAN", "mass": { "chemical_mass": 38782.0, "monoisotopic_mass": 38782.0 }, "refseq": { "ac": "NP_002533", "name": "N-glycosylase/DNA lyase isoform 1a", "summary": "This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" }, "gene_names": [ { "name": "OGG1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15527", "id": "O15527" }, { "name": "HMMH; HOGG1; MUTM; OGH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533", "id": "NP_002533" }, { "name": "MMH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15527", "id": "O15527" }, { "name": "MUTM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15527", "id": "O15527" }, { "name": "OGG1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533", "id": "NP_002533" }, { "name": "OGH1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15527", "id": "O15527" } ], "protein_names": [ { "name": "N-glycosylase/DNA lyase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15527" }, { "name": "8-hydroxyguanine DNA glycosylase; DNA-apurinic or apyrimidinic site lyase; AP lyase; N-glycosylase/DNA lyase; OGG1 type 1f", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533", "id": "NP_002533" }, { "name": "N-glycosylase/DNA lyase isoform 1a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533", "id": "NP_002533" } ], "function": [ { "annotation": "8-Oxoguanine DNA Glycosylase 1 Upregulation as a Risk Factor for Obesity and Colorectal Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" }, { "database": "PubMed", "id": "36982562", "url": "https://glygen.org/publication/PubMed/36982562" } ] }, { "annotation": "8-Oxoguanine DNA glycosylase 1 selectively modulates ROS-responsive NF-kappaB targets through recruitment of MSK1 and phosphorylation of RelA/p65 at Ser276.", "evidence": [ { "database": "RefSeq", "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" }, { "database": "PubMed", "id": "37778730", "url": "https://glygen.org/publication/PubMed/37778730" } ] }, { "annotation": "DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion.", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527#function" }, { "database": "UniProtKB", "id": "A0A9L9PXU1", "url": "https://www.uniprot.org/uniprot/A0A9L9PXU1#function" }, { "database": "UniProtKB", "id": "ARBA00025652", "url": "https://www.uniprot.org/uniprot/ARBA00025652#function" } ] }, { "annotation": "Identification of key residues of the DNA glycosylase OGG1 controlling efficient DNA sampling and recruitment to oxidized bases in living cells.", "evidence": [ { "database": "RefSeq", "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" }, { "database": "PubMed", "id": "37021552", "url": "https://glygen.org/publication/PubMed/37021552" } ] }, { "annotation": "Mitochondrial OGG1 expression reduces age-associated neuroinflammation by regulating cytosolic mitochondrial DNA.", "evidence": [ { "database": "RefSeq", "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" }, { "database": "PubMed", "id": "37011700", "url": "https://glygen.org/publication/PubMed/37011700" } ] }, { "annotation": "OGG1 in the Kidney: Beyond Base Excision Repair. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" }, { "database": "PubMed", "id": "36620083", "url": "https://glygen.org/publication/PubMed/36620083" } ] }, { "annotation": "This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" } ] } ], "disease": [ { "disease_id": "DOID:0050387", "recommended_name": { "id": "DOID:0050387", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050387", "name": "nonpapillary renal cell carcinoma", "description": "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences." }, "synonyms": [ { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "nonpapillary renal cell carcinoma", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal cell carcinoma", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal carcinoma, chromophobe, somatic", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal cell carcinoma, clear cell", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal cell carcinoma, clear cell, somatic", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "CCRCC", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "clear cell renal cell adenocarcinoma", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "clear cell renal cell carcinoma", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "RCC", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "hypernephroma", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "nonpapillary renal carcinoma 1 locus", "description": "" }, { "id": "MONDO:0007763", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007763", "name": "renal cell carcinoma, nonpapillary", "description": "" }, { "id": "MIM:144700", "resource": "MIM", "url": "https://www.omim.org/entry/144700", "name": "Renal cell carcinoma", "description": "Renal cell carcinoma" } ], "evidence": [ { "id": "144700", "database": "MIM", "url": "https://www.omim.org/entry/144700" } ] } ], "snv": [ { "evidence": [ { "id": "O15527", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15527" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 285, "end_pos": 285, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "3", "chr_pos": "9756577", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T285", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O15527", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15527" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 326, "end_pos": 326, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: Lit. mined (97).", "chr_id": "3", "chr_pos": "9757089", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S326", "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" ] } ], "mutagenesis": [ { "start_pos": 249, "end_pos": 249, "sequence_org": "K", "sequence_mut": "Q", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "PubMed", "id": "9197244", "url": "https://glygen.org/publication/PubMed/9197244" } ] }, { "start_pos": 268, "end_pos": 268, "sequence_org": "D", "sequence_mut": "E", "comment": "No effect on activity.", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "PubMed", "id": "12578369", "url": "https://glygen.org/publication/PubMed/12578369" } ] }, { "start_pos": 268, "end_pos": 268, "sequence_org": "D", "sequence_mut": "N", "comment": "Decreases activity about 65-fold.", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "PubMed", "id": "12578369", "url": "https://glygen.org/publication/PubMed/12578369" } ] }, { "start_pos": 268, "end_pos": 268, "sequence_org": "D", "sequence_mut": "Q", "comment": "No effect on activity.", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "PubMed", "id": "12578369", "url": "https://glygen.org/publication/PubMed/12578369" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "76.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "79.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "74.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "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": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "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": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "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": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O15527", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15527" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "common_name": "Human" } ], "gene": [ { "name": "OGG1", "url": "https://www.uniprot.org/uniprot/O15527", "locus": { "chromosome": "3", "start_pos": 9788219, "end_pos": 9749944, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000114026", "url": "https://www.ensembl.org/id/ENSG00000114026" } ] } } ], "crossref": [ { "id": "ENSG00000114026", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114026", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15527", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15527", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.2.2.23", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.2.2.23&UniProtAcc=O15527", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "4.2.99.18", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=4.2.99.18&UniProtAcc=O15527", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00056", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00056", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3396944", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3396944", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "OGG1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=OGG1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "8125", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8125", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15527", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15527*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003265", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003265", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004577", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004577", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011257", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011257", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012904", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012904", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023170", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023170", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4968", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4968", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "144700", "url": "http://www.omim.org/entry/144700", "database": "MIM", "categories": [ "Other" ] }, { "id": "601982", "url": "http://www.omim.org/entry/601982", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15527", "url": "https://www.nextprot.org/entry/NX_O15527", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "GYAQQYL", "url": "https://omabrowser.org/oma/group/GYAQQYL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "118473at2759", "url": "http://www.orthodb.org/?query=118473at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10242", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10242", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10242:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10242:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1EBM", "url": "https://www.rcsb.org/structure/1EBM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1FN7", "url": "https://www.rcsb.org/structure/1FN7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1HU0", "url": "https://www.rcsb.org/structure/1HU0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1KO9", "url": "https://www.rcsb.org/structure/1KO9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1LWV", "url": "https://www.rcsb.org/structure/1LWV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1LWW", "url": "https://www.rcsb.org/structure/1LWW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1LWY", "url": "https://www.rcsb.org/structure/1LWY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1M3H", "url": "https://www.rcsb.org/structure/1M3H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1M3Q", "url": "https://www.rcsb.org/structure/1M3Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1N39", "url": "https://www.rcsb.org/structure/1N39", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1N3A", "url": "https://www.rcsb.org/structure/1N3A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1N3C", "url": "https://www.rcsb.org/structure/1N3C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1YQK", "url": "https://www.rcsb.org/structure/1YQK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1YQL", "url": "https://www.rcsb.org/structure/1YQL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1YQM", "url": "https://www.rcsb.org/structure/1YQM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1YQR", "url": "https://www.rcsb.org/structure/1YQR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2I5W", "url": "https://www.rcsb.org/structure/2I5W", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2NOB", "url": "https://www.rcsb.org/structure/2NOB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2NOE", "url": "https://www.rcsb.org/structure/2NOE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2NOF", "url": "https://www.rcsb.org/structure/2NOF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2NOH", "url": "https://www.rcsb.org/structure/2NOH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2NOI", "url": "https://www.rcsb.org/structure/2NOI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2NOL", "url": "https://www.rcsb.org/structure/2NOL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2NOZ", "url": "https://www.rcsb.org/structure/2NOZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2XHI", "url": "https://www.rcsb.org/structure/2XHI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IH7", "url": "https://www.rcsb.org/structure/3IH7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3KTU", "url": "https://www.rcsb.org/structure/3KTU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5AN4", "url": "https://www.rcsb.org/structure/5AN4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6RLW", "url": "https://www.rcsb.org/structure/6RLW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6W0M", "url": "https://www.rcsb.org/structure/6W0M", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6W0R", "url": "https://www.rcsb.org/structure/6W0R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6W13", "url": "https://www.rcsb.org/structure/6W13", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AYY", "url": "https://www.rcsb.org/structure/7AYY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00730", "url": "http://pfam.xfam.org/family/PF00730", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07934", "url": "http://pfam.xfam.org/family/PF07934", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15527", "url": "https://pharos.nih.gov/targets/O15527", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15527", "url": "http://purl.obolibrary.org/obo/PR_O15527", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-110329", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110329", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-110331", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110331", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5649702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5649702", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9656255", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656255", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "66592", "url": "https://www.rhea-db.org/rhea/66592", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A9L9PXU1", "url": "https://www.uniprot.org/uniprot/A0A9L9PXU1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A9L9PXU1-1", "url": "https://www.uniprot.org/uniprot/A0A9L9PXU1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCZ9", "url": "https://www.uniprot.org/uniprot/F8WCZ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCZ9-1", "url": "https://www.uniprot.org/uniprot/F8WCZ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BXZ1", "url": "https://www.uniprot.org/uniprot/H7BXZ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BXZ1-1", "url": "https://www.uniprot.org/uniprot/H7BXZ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZM3", "url": "https://www.uniprot.org/uniprot/H7BZM3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZM3-1", "url": "https://www.uniprot.org/uniprot/H7BZM3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C0A1", "url": "https://www.uniprot.org/uniprot/H7C0A1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C0A1-1", "url": "https://www.uniprot.org/uniprot/H7C0A1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1D7", "url": "https://www.uniprot.org/uniprot/H7C1D7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1D7-1", "url": "https://www.uniprot.org/uniprot/H7C1D7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1V7", "url": "https://www.uniprot.org/uniprot/H7C1V7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1V7-1", "url": "https://www.uniprot.org/uniprot/H7C1V7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15527-1", "url": "https://www.uniprot.org/uniprot/O15527-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15527-2", "url": "https://www.uniprot.org/uniprot/O15527-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15527-3", "url": "https://www.uniprot.org/uniprot/O15527-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15527-4", "url": "https://www.uniprot.org/uniprot/O15527-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15527-5", "url": "https://www.uniprot.org/uniprot/O15527-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15527-6", "url": "https://www.uniprot.org/uniprot/O15527-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15527-7", "url": "https://www.uniprot.org/uniprot/O15527-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15527-8", "url": "https://www.uniprot.org/uniprot/O15527-8", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELGNFFRSLWGPYAGWAQAVLFSADLRQSRHAQEPPAKRRKGSKGPEG", "length": 345, "header": "sp|O15527-1|OGG1_HUMAN Isoform 1 of N-glycosylase/DNA lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=2 CANONICAL=O15527-1" }, "isoforms": [ { "isoform_ac": "A0A9L9PXU1-1", "url": "", "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKETFSGACGDLMLAGPKRASLAMHLMATSFCVLLSSARITSEKAPLSGEGIHKVKNWNPSFPPASPPFPMGSVTTAGPRTWMTLP", "length": 333, "header": "tr|A0A9L9PXU1-1|A0A9L9PXU1_HUMAN Computationally mapped isoform of DNA-(apurinic or apyrimidinic site) lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=1 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9766010, "end_pos": 9750287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000707074.1", "url": "https://www.ensembl.org/id/ENST00000707074.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516725.1", "url": "https://www.ensembl.org/id/ENSP00000516725.1" } ] } }, { "isoform_ac": "F8WCZ9-1", "url": "", "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWLTASA", "length": 52, "header": "tr|F8WCZ9-1|F8WCZ9_HUMAN Computationally mapped isoform of 8-oxoguanine DNA glycosylase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=1 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9756489, "end_pos": 9750287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425665.1", "url": "https://www.ensembl.org/id/ENST00000425665.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000396034.1", "url": "https://www.ensembl.org/id/ENSP00000396034.1" } ] } }, { "isoform_ac": "H7BXZ1-1", "url": "", "sequence": { "sequence": "XVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKGLLGNAFDGHQLLRPLIFCQDHLREGPPIGRGDSQGEELEPQLPSSLSSIPYGFCDHCWTKDVDDPPLVTHPSPGSRDGHMTQAWPVKVVSPLATVIGHVMQASLLAL", "length": 263, "header": "tr|H7BXZ1-1|OGG1_HUMAN Computationally mapped isoform of N-glycosylase/DNA lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=1 CANONICAL=O15527-1" }, "locus": {} }, { "isoform_ac": "H7BZM3-1", "url": "", "sequence": { "sequence": "XPCGPPSRALALSCAWTWFCLLDNLSGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELGNFFRSLWGPYAGWAQAVSVPRCPP", "length": 222, "header": "tr|H7BZM3-1|H7BZM3_HUMAN Computationally mapped isoform of DNA-(apurinic or apyrimidinic site) lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=1 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9756841, "end_pos": 9750346, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441094.5", "url": "https://www.ensembl.org/id/ENST00000441094.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390337.1", "url": "https://www.ensembl.org/id/ENSP00000390337.1" } ] } }, { "isoform_ac": "H7C0A1-1", "url": "", "sequence": { "sequence": "XASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGG", "length": 168, "header": "tr|H7C0A1-1|H7C0A1_HUMAN Computationally mapped isoform of 8-oxoguanine DNA glycosylase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=1 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9756477, "end_pos": 9750355, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429146.5", "url": "https://www.ensembl.org/id/ENST00000429146.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000393726.1", "url": "https://www.ensembl.org/id/ENSP00000393726.1" } ] } }, { "isoform_ac": "H7C1D7-1", "url": "", "sequence": { "sequence": "XELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGVPVPAEGLLTSASAFQSPLRSRQPEADRR", "length": 128, "header": "tr|H7C1D7-1|H7C1D7_HUMAN Computationally mapped isoform of 8-oxoguanine DNA glycosylase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=1 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9787729, "end_pos": 9751079, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426518.5", "url": "https://www.ensembl.org/id/ENST00000426518.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000399810.1", "url": "https://www.ensembl.org/id/ENSP00000399810.1" } ] } }, { "isoform_ac": "H7C1V7-1", "url": "", "sequence": { "sequence": "XMMSPTMASPACRPWLVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELGNFFRSLWGPYAGWAQATPPSYRCCSVPTCANPAMLRSHQQSAERVPKGRKARWGTLDKEIPQAPS", "length": 132, "header": "tr|H7C1V7-1|H7C1V7_HUMAN Computationally mapped isoform of 8-oxoguanine DNA glycosylase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=1 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9757191, "end_pos": 9751903, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416333.1", "url": "https://www.ensembl.org/id/ENST00000416333.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000402713.1", "url": "https://www.ensembl.org/id/ENSP00000402713.1" } ] } }, { "isoform_ac": "O15527-1", "url": "", "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELGNFFRSLWGPYAGWAQAVLFSADLRQSRHAQEPPAKRRKGSKGPEG", "length": 345, "header": "sp|O15527-1|OGG1_HUMAN Isoform 1 of N-glycosylase/DNA lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=2 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9757147, "end_pos": 9750287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000344629.12", "url": "https://www.ensembl.org/id/ENST00000344629.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000342851.7", "url": "https://www.ensembl.org/id/ENSP00000342851.7" } ] } }, { "isoform_ac": "O15527-2", "url": "", "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELGNFFRSLWGPYAGWAQAVSVPRCPP", "length": 324, "header": "sp|O15527-2|OGG1_HUMAN Isoform 2 of N-glycosylase/DNA lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=2 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9756840, "end_pos": 9750287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000339511.9", "url": "https://www.ensembl.org/id/ENST00000339511.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000345520.5", "url": "https://www.ensembl.org/id/ENSP00000345520.5" } ] } }, { "isoform_ac": "O15527-3", "url": "", "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELGNFFRSLWGPYAGWAQATPPSYRCCSVPTCANPAMLRSHQQSAERVPKGRKARWGTLDKEIPQAPSPPFPTSLSPSPPSLMLGRGLPVTTSKARHPQIKQSVCTTRWGGGY", "length": 410, "header": "sp|O15527-3|OGG1_HUMAN Isoform 3 of N-glycosylase/DNA lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=2 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9757325, "end_pos": 9750287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000302003.11", "url": "https://www.ensembl.org/id/ENST00000302003.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000305584.7", "url": "https://www.ensembl.org/id/ENSP00000305584.7" } ] } }, { "isoform_ac": "O15527-4", "url": "", "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELGNFFRSLWGPYAGWAQAGLLGNAFDGHQLLRPLIFCQDHLREGPPIGRGDSQGEELEPQLPSSLSSIPYGFCDHCWTKDVDDPPLVTHPSPGSRDGHMTQAWPVKVVSPLATVIGHVMQASLLAL", "length": 424, "header": "sp|O15527-4|OGG1_HUMAN Isoform 4 of N-glycosylase/DNA lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=2 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9766132, "end_pos": 9750287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000302036.12", "url": "https://www.ensembl.org/id/ENST00000302036.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000306561.7", "url": "https://www.ensembl.org/id/ENSP00000306561.7" } ] } }, { "isoform_ac": "O15527-5", "url": "", "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKGLLGNAFDGHQLLRPLIFCQDHLREGPPIGRGDSQGEELEPQLPSSLSSIPYGFCDHCWTKDVDDPPLVTHPSPGSRDGHMTQAWPVKVVSPLATVIGHVMQASLLAL", "length": 357, "header": "sp|O15527-5|OGG1_HUMAN Isoform 5 of N-glycosylase/DNA lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=2 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9766132, "end_pos": 9750287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000352937.6", "url": "https://www.ensembl.org/id/ENST00000352937.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000344899.6", "url": "https://www.ensembl.org/id/ENSP00000344899.6" } ] } }, { "isoform_ac": "O15527-6", "url": "", "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPPWQCI", "length": 195, "header": "sp|O15527-6|OGG1_HUMAN Isoform 6 of N-glycosylase/DNA lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=2 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9765828, "end_pos": 9750287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383826.9", "url": "https://www.ensembl.org/id/ENST00000383826.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000373337.5", "url": "https://www.ensembl.org/id/ENSP00000373337.5" } ] } }, { "isoform_ac": "O15527-7", "url": "", "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELGNFFRSLWGPYAGWAQALCQVITTFMTFLGPHRLDQMPPEELQTSSSRLGGPPWQCI", "length": 356, "header": "sp|O15527-7|OGG1_HUMAN Isoform 7 of N-glycosylase/DNA lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=2 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9765828, "end_pos": 9750287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000302008.12", "url": "https://www.ensembl.org/id/ENST00000302008.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000305527.8", "url": "https://www.ensembl.org/id/ENSP00000305527.8" } ] } }, { "isoform_ac": "O15527-8", "url": "", "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELGNFFRSLWGPYAGWAQAAGSDAS", "length": 322, "header": "sp|O15527-8|OGG1_HUMAN Isoform 8 of N-glycosylase/DNA lyase OS=Homo sapiens OX=9606 GN=OGG1 PE=1 SV=2 CANONICAL=O15527-1" }, "locus": { "chromosome": "3", "start_pos": 9759251, "end_pos": 9750287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449570.6", "url": "https://www.ensembl.org/id/ENST00000449570.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000403598.2", "url": "https://www.ensembl.org/id/ENSP00000403598.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Identification of a new uracil-DNA glycosylase family by expression cloning using synthetic inhibitors.", "journal": "Current biology : CB", "date": "1999", "authors": "Haushalter KA, Todd Stukenberg MW, Kirschner MW, Verdine GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "10074426", "url": "https://glygen.org/publication/PubMed/10074426" } ] }, { "title": "Expression and differential intracellular localization of two major forms of human 8-Oxoguanine DNA glycosylase encoded by alternatively spliced OGG1 mRNAs.", "journal": "Mol. Biol. Cell", "date": "1999", "authors": "Nishioka K, Ohtsubo T, Oda H, Fujiwara T, Kang D, Sugimachi K, Nakabeppu Y", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "10233168", "url": "https://glygen.org/publication/PubMed/10233168" } ] }, { "title": "Structure and chromosome location of human OGG1.", "journal": "Cytogenet. Cell Genet.", "date": "1999", "authors": "Ishida T, Hippo Y, Nakahori Y, Matsushita I, Kodama T, Nishimura S, Aburatani H", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "10449904", "url": "https://glygen.org/publication/PubMed/10449904" } ] }, { "title": "Excision of oxidatively damaged DNA bases by the human alpha-hOgg1 protein and the polymorphic alpha-hOgg1(Ser326Cys) protein which is frequently found in human populations.", "journal": "Nucleic Acids Res.", "date": "1999", "authors": "Dherin C, Radicella JP, Dizdaroglu M, Boiteux S", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "10497264", "url": "https://glygen.org/publication/PubMed/10497264" } ] }, { "title": "Structural basis for recognition and repair of the endogenous mutagen 8-oxoguanine in DNA.", "journal": "Nature", "date": "2000", "authors": "Bruner SD, Norman DP, Verdine GL", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "10706276", "url": "https://glygen.org/publication/PubMed/10706276" } ] }, { "title": "hOGG1 Ser326Cys polymorphism and lung cancer susceptibility.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "1999", "authors": "Sugimura H, Kohno T, Wakai K, Nagura K, Genka K, Igarashi H, Morris BJ, Baba S, Ohno Y, Gao C, Li Z, Wang J, Takezaki T, Tajima K, Varga T, Sawaguchi T, Lum JK, Martinson JJ, Tsugane S, Iwamasa T, Shinmura K, Yokota J", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "10744126", "url": "https://glygen.org/publication/PubMed/10744126" } ] }, { "title": "The human OGG1 gene: structure, functions, and its implication in the process of carcinogenesis.", "journal": "Arch. Biochem. Biophys.", "date": "2000", "authors": "Boiteux S, Radicella J P", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "10775435", "url": "https://glygen.org/publication/PubMed/10775435" } ] }, { "title": "Cell-cycle regulation, intracellular sorting and induced overexpression of the human NTH1 DNA glycosylase involved in removal of formamidopyrimidine residues from DNA.", "journal": "Mutation research", "date": "2000", "authors": "Luna L, Bjoras M, Hoff E, Rognes T, Seeberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "10882850", "url": "https://glygen.org/publication/PubMed/10882850" } ] }, { "title": "Effect of single mutations in the OGG1 gene found in human tumors on the substrate specificity of the Ogg1 protein.", "journal": "Nucleic acids research", "date": "2000", "authors": "Audebert M, Radicella JP, Dizdaroglu M", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "10908322", "url": "https://glygen.org/publication/PubMed/10908322" } ] }, { "title": "Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Petronzelli F, Riccio A, Markham GD, Seeholzer SH, Stoerker J, Genuardi M, Yeung AT, Matsumoto Y, Bellacosa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "10930409", "url": "https://glygen.org/publication/PubMed/10930409" } ] }, { "title": "Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney.", "journal": "Cancer research", "date": "2000", "authors": "Audebert M, Chevillard S, Levalois C, Gyapay G, Vieillefond A, Klijanienko J, Vielh P, El Naggar AK, Oudard S, Boiteux S, Radicella JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "10987279", "url": "https://glygen.org/publication/PubMed/10987279" } ] }, { "title": "Leukemic cell line, KG-1 has a functional loss of hOGG1 enzyme due to a point mutation and 8-hydroxydeoxyguanosine can kill KG-1.", "journal": "Oncogene", "date": "2000", "authors": "Hyun JW, Choi JY, Zeng HH, Lee YS, Kim HS, Yoon SH, Chung MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "11002420", "url": "https://glygen.org/publication/PubMed/11002420" } ] }, { "title": "Investigation of the substrate spectrum of the human mismatch-specific DNA N-glycosylase MED1 (MBD4): fundamental role of the catalytic domain.", "journal": "Journal of cellular physiology", "date": "2000", "authors": "Petronzelli F, Riccio A, Markham GD, Seeholzer SH, Genuardi M, Karbowski M, Yeung AT, Matsumoto Y, Bellacosa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "11056019", "url": "https://glygen.org/publication/PubMed/11056019" } ] }, { "title": "Stimulation of human 8-oxoguanine-DNA glycosylase by AP-endonuclease: potential coordination of the initial steps in base excision repair.", "journal": "Nucleic acids research", "date": "2001", "authors": "Hill JW, Hazra TK, Izumi T, Mitra S", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "11139613", "url": "https://glygen.org/publication/PubMed/11139613" } ] }, { "title": "Enhanced activity of adenine-DNA glycosylase (Myh) by apurinic/apyrimidinic endonuclease (Ape1) in mammalian base excision repair of an A/GO mismatch.", "journal": "Nucleic acids research", "date": "2001", "authors": "Yang H, Clendenin WM, Wong D, Demple B, Slupska MM, Chiang JH, Miller JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "11160897", "url": "https://glygen.org/publication/PubMed/11160897" } ] }, { "title": "XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair.", "journal": "Cell", "date": "2001", "authors": "Whitehouse CJ, Taylor RM, Thistlethwaite A, Zhang H, Karimi-Busheri F, Lasko DD, Weinfeld M, Caldecott KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5649702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5649702" } ], "reference": [ { "type": "PubMed", "id": "11163244", "url": "https://glygen.org/publication/PubMed/11163244" } ] }, { "title": "Ser326Cys polymorphism in hOGG1 gene and risk of esophageal cancer in a Chinese population.", "journal": "International journal of cancer", "date": "2001", "authors": "Xing DY, Tan W, Song N, Lin DX", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "11307145", "url": "https://glygen.org/publication/PubMed/11307145" } ] }, { "title": "hOGG1 exon7 polymorphism and gastric cancer in case-control studies of Japanese Brazilians and non-Japanese Brazilians.", "journal": "Cancer letters", "date": "2001", "authors": "Hanaoka T, Sugimura H, Nagura K, Ihara M, Li XJ, Hamada GS, Nishimoto I, Kowalski LP, Yokota J, Tsugane S", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "11448535", "url": "https://glygen.org/publication/PubMed/11448535" } ] }, { "title": "Radiation sensitivity depends on OGG1 activity status in human leukemia cell lines.", "journal": "Free radical biology & medicine", "date": "2002", "authors": "Hyun JW, Cheon GJ, Kim HS, Lee YS, Choi EY, Yoon BH, Kim JS, Chung MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "11827746", "url": "https://glygen.org/publication/PubMed/11827746" } ] }, { "title": "Modification of the human thymine-DNA glycosylase by ubiquitin-like proteins facilitates enzymatic turnover.", "journal": "The EMBO journal", "date": "2002", "authors": "Hardeland U, Steinacher R, Jiricny J, Schar P", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "11889051", "url": "https://glygen.org/publication/PubMed/11889051" } ] }, { "title": "Reciprocal 'flipping'; underlies substrate recognition and catalytic activation by the human 8-oxo-guanine DNA glycosylase.", "journal": "J. Mol. Biol.", "date": "2002", "authors": "Bjoras M, Seeberg E, Luna L, Pearl LH, Barrett TE", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "11902834", "url": "https://glygen.org/publication/PubMed/11902834" } ] }, { "title": "Identification and characterization of a human DNA glycosylase for repair of modified bases in oxidatively damaged DNA.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hazra TK, Izumi T, Boldogh I, Imhoff B, Kow YW, Jaruga P, Dizdaroglu M, Mitra S", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "11904416", "url": "https://glygen.org/publication/PubMed/11904416" } ] }, { "title": "Identification and characterization of a novel human DNA glycosylase for repair of cytosine-derived lesions.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Hazra TK, Kow YW, Hatahet Z, Imhoff B, Boldogh I, Mokkapati SK, Mitra S, Izumi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-110329", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110329" } ], "reference": [ { "type": "PubMed", "id": "12097317", "url": "https://glygen.org/publication/PubMed/12097317" } ] }, { "title": "Identification of 5-formyluracil DNA glycosylase activity of human hNTH1 protein.", "journal": "Nucleic acids research", "date": "2002", "authors": "Miyabe I, Zhang QM, Kino K, Sugiyama H, Takao M, Yasui A, Yonei S", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "12140329", "url": "https://glygen.org/publication/PubMed/12140329" } ] }, { "title": "A limited association of OGG1 Ser326Cys polymorphism for adenocarcinoma of the lung.", "journal": "Journal of epidemiology", "date": "2002", "authors": "Ito H, Hamajima N, Takezaki T, Matsuo K, Tajima K, Hatooka S, Mitsudomi T, Suyama M, Sato S, Ueda R", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "12164330", "url": "https://glygen.org/publication/PubMed/12164330" } ] }, { "title": "Mismatch repair in methylated DNA. Structure and activity of the mismatch-specific thymine glycosylase domain of methyl-CpG-binding protein MBD4.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Wu P, Qiu C, Sohail A, Zhang X, Bhagwat AS, Cheng X", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "12456671", "url": "https://glygen.org/publication/PubMed/12456671" } ] }, { "title": "Mitochondrial targeting of human 8-oxoguanine DNA glycosylase hOGG1 is impaired by a somatic mutation found in kidney cancer.", "journal": "DNA repair", "date": "2002", "authors": "Audebert M, Charbonnier JB, Boiteux S, Radicella JP", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "12509224", "url": "https://glygen.org/publication/PubMed/12509224" } ] }, { "title": "Substrate specificity of human endonuclease III (hNTH1). Effect of human APE1 on hNTH1 activity.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Marenstein DR, Chan MK, Altamirano A, Basu AK, Boorstein RJ, Cunningham RP, Teebor GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "12519758", "url": "https://glygen.org/publication/PubMed/12519758" } ] }, { "title": "Structural and biochemical exploration of a critical amino acid in human 8-oxoguanine glycosylase.", "journal": "Biochemistry", "date": "2003", "authors": "Norman DP, Chung SJ, Verdine GL", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "12578369", "url": "https://glygen.org/publication/PubMed/12578369" } ] }, { "title": "No association between OGG1 Ser326Cys polymorphism and breast cancer risk.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2003", "authors": "Vogel U, Nexo BA, Olsen A, Thomsen B, Jacobsen NR, Wallin H, Overvad K, Tjonneland A", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "12582029", "url": "https://glygen.org/publication/PubMed/12582029" } ] }, { "title": "Product-assisted catalysis in base-excision DNA repair.", "journal": "Nat. Struct. Biol.", "date": "2003", "authors": "Fromme JC, Bruner SD, Yang W, Karplus M, Verdine GL", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "12592398", "url": "https://glygen.org/publication/PubMed/12592398" } ] }, { "title": "hOGG1 Ser326Cys polymorphism modifies the significance of the environmental risk factor for colon cancer.", "journal": "World journal of gastroenterology", "date": "2003", "authors": "Kim JI, Park YJ, Kim KH, Kim JI, Song BJ, Lee MS, Kim CN, Chang SH", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "12717837", "url": "https://glygen.org/publication/PubMed/12717837" } ] }, { "title": "Mammalian 5-formyluracil-DNA glycosylase. 2. Role of SMUG1 uracil-DNA glycosylase in repair of 5-formyluracil and other oxidized and deaminated base lesions.", "journal": "Biochemistry", "date": "2003", "authors": "Masaoka A, Matsubara M, Hasegawa R, Tanaka T, Kurisu S, Terato H, Ohyama Y, Karino N, Matsuda A, Ide H", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "12718543", "url": "https://glygen.org/publication/PubMed/12718543" } ] }, { "title": "hOGG1 Ser326Cys polymorphism and breast cancer risk among Asian women.", "journal": "Breast cancer research and treatment", "date": "2003", "authors": "Choi JY, Hamajima N, Tajima K, Yoo KY, Yoon KS, Park SK, Kim SU, Lee KM, Noh DY, Ahn SH, Choe KJ, Han W, Hirvonen A, Kang D", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "12779082", "url": "https://glygen.org/publication/PubMed/12779082" } ] }, { "title": "Association between polymorphism of human oxoguanine glycosylase 1 and risk of prostate cancer.", "journal": "The Journal of urology", "date": "2003", "authors": "Chen L, Elahi A, Pow-Sang J, Lazarus P, Park J", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "14634453", "url": "https://glygen.org/publication/PubMed/14634453" } ] }, { "title": "The human 8-oxoguanine DNA N-glycosylase 1 (hOGG1) DNA repair enzyme and its association with lung cancer risk.", "journal": "Pharmacogenetics", "date": "2004", "authors": "Park J, Chen L, Tockman MS, Elahi A, Lazarus P", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "15077011", "url": "https://glygen.org/publication/PubMed/15077011" } ] }, { "title": "No Association between hOGG1 Ser326Cys polymorphism and risk of squamous cell carcinoma of the head and neck.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2004", "authors": "Zhang Z, Shi Q, Wang LE, Sturgis EM, Spitz MR, El-Naggar AK, Hong WK, Wei Q", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "15184269", "url": "https://glygen.org/publication/PubMed/15184269" } ] }, { "title": "AP endonuclease-independent DNA base excision repair in human cells.", "journal": "Molecular cell", "date": "2004", "authors": "Wiederhold L, Leppard JB, Kedar P, Karimi-Busheri F, Rasouli-Nia A, Weinfeld M, Tomkinson AE, Izumi T, Prasad R, Wilson SH, Mitra S, Hazra TK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5649702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5649702" } ], "reference": [ { "type": "PubMed", "id": "15260972", "url": "https://glygen.org/publication/PubMed/15260972" } ] }, { "title": "Oxidative DNA damage and disease: induction, repair and significance.", "journal": "Mutation research", "date": "2004", "authors": "Evans MD, Dizdaroglu M, Cooke MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "15341901", "url": "https://glygen.org/publication/PubMed/15341901" } ] }, { "title": "Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients: R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients.", "journal": "Human genetics", "date": "2004", "authors": "Kim IJ, Ku JL, Kang HC, Park JH, Yoon KA, Shin Y, Park HW, Jang SG, Lim SK, Han SY, Shin YK, Lee MR, Jeong SY, Shin HR, Lee JS, Kim WH, Park JG", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "15449173", "url": "https://glygen.org/publication/PubMed/15449173" } ] }, { "title": "No association between OGG1 Ser326Cys and risk of basal cell carcinoma.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2004", "authors": "Vogel U, Olsen A, Wallin H, Overvad K, Tjonneland A, Nexo BA", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "15466987", "url": "https://glygen.org/publication/PubMed/15466987" } ] }, { "title": "Repair of U/G and U/A in DNA by UNG2-associated repair complexes takes place predominantly by short-patch repair both in proliferating and growth-arrested cells.", "journal": "Nucleic acids research", "date": "2004", "authors": "Akbari M, Otterlei M, Pena-Diaz J, Aas PA, Kavli B, Liabakk NB, Hagen L, Imai K, Durandy A, Slupphaug G, Krokan HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "15479784", "url": "https://glygen.org/publication/PubMed/15479784" } ] }, { "title": "hOGG1 Ser326Cys polymorphism and G:C-to-T:A mutations: no evidence for a role in tobacco-related non small cell lung cancer.", "journal": "International journal of cancer", "date": "2005", "authors": "Hu YC, Ahrendt SA", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "15551330", "url": "https://glygen.org/publication/PubMed/15551330" } ] }, { "title": "hOGG1 Ser326Cys polymorphism, interaction with environmental exposures, and gastric cancer risk in Japanese populations.", "journal": "Cancer science", "date": "2004", "authors": "Tsukino H, Hanaoka T, Otani T, Iwasaki M, Kobayashi M, Hara M, Natsukawa S, Shaura K, Koizumi Y, Kasuga Y, Tsugane S", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "15596047", "url": "https://glygen.org/publication/PubMed/15596047" } ] }, { "title": "Structures of end products resulting from lesion processing by a DNA glycosylase/lyase.", "journal": "Chem. Biol.", "date": "2004", "authors": "Chung SJ, Verdine GL", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "15610848", "url": "https://glygen.org/publication/PubMed/15610848" } ] }, { "title": "Genotypes of TNF-alpha, VEGF, hOGG1, GSTM1, and GSTT1: useful determinants for clinical outcome of bladder cancer.", "journal": "Urology", "date": "2005", "authors": "Kim EJ, Jeong P, Quan C, Kim J, Bae SC, Yoon SJ, Kang JW, Lee SC, Jun Wee J, Kim WJ", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "15667866", "url": "https://glygen.org/publication/PubMed/15667866" } ] }, { "title": "Human 3-methyladenine-DNA glycosylase: effect of sequence context on excision, association with PCNA, and stimulation by AP endonuclease.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Xia L, Zheng L, Lee HW, Bates SE, Federico L, Shen B, O'Connor TR", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "15713479", "url": "https://glygen.org/publication/PubMed/15713479" } ] }, { "title": "Functionality of human thymine DNA glycosylase requires SUMO-regulated changes in protein conformation.", "journal": "Current biology : CB", "date": "2005", "authors": "Steinacher R, Schar P", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "15823533", "url": "https://glygen.org/publication/PubMed/15823533" } ] }, { "title": "Rapid detection of single nucleotide polymorphisms related with lung cancer susceptibility of Chinese population.", "journal": "Cancer letters", "date": "2005", "authors": "Liang G, Pu Y, Yin L", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "15896461", "url": "https://glygen.org/publication/PubMed/15896461" } ] }, { "title": "GPX Pro198Leu and OGG1 Ser326Cys polymorphisms and risk of development of colorectal adenomas and colorectal cancer.", "journal": "Cancer letters", "date": "2005", "authors": "Hansen R, Saebo M, Skjelbred CF, Nexo BA, Hagen PC, Bock G, Bowitz Lothe IM, Johnson E, Aase S, Hansteen IL, Vogel U, Kure EH", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "15946795", "url": "https://glygen.org/publication/PubMed/15946795" } ] }, { "title": "Association of XRCC1 Arg399Gln and OGG1 Ser326Cys polymorphisms with the risk of cervical cancer in Japanese subjects.", "journal": "Gynecologic oncology", "date": "2005", "authors": "Niwa Y, Matsuo K, Ito H, Hirose K, Tajima K, Nakanishi T, Nawa A, Kuzuya K, Tamakoshi A, Hamajima N", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "15990162", "url": "https://glygen.org/publication/PubMed/15990162" } ] }, { "title": "Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.", "journal": "Carcinogenesis", "date": "2006", "authors": "Zienolddiny S, Campa D, Lind H, Ryberg D, Skaug V, Stangeland L, Phillips DH, Canzian F, Haugen A", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "16195237", "url": "https://glygen.org/publication/PubMed/16195237" } ] }, { "title": "Repair of formamidopyrimidines in DNA involves different glycosylases: role of the OGG1, NTH1, and NEIL1 enzymes.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Hu J, de Souza-Pinto NC, Haraguchi K, Hogue BA, Jaruga P, Greenberg MM, Dizdaroglu M, Bohr VA", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "16221681", "url": "https://glygen.org/publication/PubMed/16221681" } ] }, { "title": "Interaction of OGG1 Ser326Cys polymorphism with cigarette smoking in head and neck squamous cell carcinoma.", "journal": "Molecular carcinogenesis", "date": "2006", "authors": "Hashimoto T, Uchida K, Okayama N, Imate Y, Suehiro Y, Hamanaka Y, Ueyama Y, Yamashita H, Hinoda Y", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "16381036", "url": "https://glygen.org/publication/PubMed/16381036" } ] }, { "title": "Functional Ser326Cys polymorphism in the hOGG1 gene is not associated with breast cancer risk.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2006", "authors": "Cai Q, Shu XO, Wen W, Courtney R, Dai Q, Gao YT, Zheng W", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "16492938", "url": "https://glygen.org/publication/PubMed/16492938" } ] }, { "title": "Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2006", "authors": "Moreno V, Gemignani F, Landi S, Gioia-Patricola L, Chabrier A, Blanco I, Gonzalez S, Guino E, Capella G, Canzian F", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "16609022", "url": "https://glygen.org/publication/PubMed/16609022" } ] }, { "title": "Association of the OGG1-Ser326Cys polymorphism with lung adenocarcinoma risk.", "journal": "Cancer science", "date": "2006", "authors": "Kohno T, Kunitoh H, Toyama K, Yamamoto S, Kuchiba A, Saito D, Yanagitani N, Ishihara S, Saito R, Yokota J", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "16800823", "url": "https://glygen.org/publication/PubMed/16800823" } ] }, { "title": "NEIL2-initiated, APE-independent repair of oxidized bases in DNA: Evidence for a repair complex in human cells.", "journal": "DNA repair", "date": "2006", "authors": "Das A, Wiederhold L, Leppard JB, Kedar P, Prasad R, Wang H, Boldogh I, Karimi-Busheri F, Weinfeld M, Tomkinson AE, Wilson SH, Mitra S, Hazra TK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5649702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5649702" } ], "reference": [ { "type": "PubMed", "id": "16982218", "url": "https://glygen.org/publication/PubMed/16982218" } ] }, { "title": "hOGG1 Ser326Cys polymorphism and risk of hepatocellular carcinoma among Japanese.", "journal": "Journal of epidemiology", "date": "2006", "authors": "Sakamoto T, Higaki Y, Hara M, Ichiba M, Horita M, Mizuta T, Eguchi Y, Yasutake T, Ozaki I, Yamamoto K, Onohara S, Kawazoe S, Shigematsu H, Koizumi S, Tanaka K", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "17085873", "url": "https://glygen.org/publication/PubMed/17085873" } ] }, { "title": "Structural characterization of human 8-oxoguanine DNA glycosylase variants bearing active site mutations.", "journal": "J. Biol. Chem.", "date": "2007", "authors": "Radom Christopher T, Banerjee Anirban, Verdine Gregory L", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "17114185", "url": "https://glygen.org/publication/PubMed/17114185" } ] }, { "title": "UVA irradiation induces relocalisation of the DNA repair protein hOGG1 to nuclear speckles.", "journal": "J. Cell Sci.", "date": "2007", "authors": "Campalans Anna, Amouroux Rachel, Bravard Anne, Epe Bernd, Radicella J Pablo", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "17148573", "url": "https://glygen.org/publication/PubMed/17148573" } ] }, { "title": "High-order interactions among genetic variants in DNA base excision repair pathway genes and smoking in bladder cancer susceptibility.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2007", "authors": "Huang M, Dinney CP, Lin X, Lin J, Grossman HB, Wu X", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "17220334", "url": "https://glygen.org/publication/PubMed/17220334" } ] }, { "title": "hOGG1 Ser326Cys polymorphism and susceptibility to gallbladder cancer in a Chinese population.", "journal": "International journal of cancer", "date": "2007", "authors": "Jiao X, Huang J, Wu S, Lv M, Hu Y, Jianfu, Su X, Luo C, Ce B", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "17417784", "url": "https://glygen.org/publication/PubMed/17417784" } ] }, { "title": "Identification and characterization of OGG1 mutations in patients with Alzheimer's disease.", "journal": "Nucleic acids research", "date": "2007", "authors": "Mao G, Pan X, Zhu BB, Zhang Y, Yuan F, Huang J, Lovell MA, Lee MP, Markesbery WR, Li GM, Gu L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "17426120", "url": "https://glygen.org/publication/PubMed/17426120" } ] }, { "title": "Uracil-DNA glycosylases SMUG1 and UNG2 coordinate the initial steps of base excision repair by distinct mechanisms.", "journal": "Nucleic acids research", "date": "2007", "authors": "Pettersen HS, Sundheim O, Gilljam KM, Slupphaug G, Krokan HE, Kavli B", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "17537817", "url": "https://glygen.org/publication/PubMed/17537817" } ] }, { "title": "A novel R229Q OGG1 polymorphism results in a thermolabile enzyme that sensitizes KG-1 leukemia cells to DNA damaging agents.", "journal": "Cancer detection and prevention", "date": "2007", "authors": "Hill JW, Evans MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" }, { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "17651912", "url": "https://glygen.org/publication/PubMed/17651912" } ] }, { "title": "The hOGG1 Ser326Cys polymorphism is not associated with colorectal cancer risk.", "journal": "Journal of epidemiology", "date": "2007", "authors": "Park HW, Kim IJ, Kang HC, Jang SG, Ahn SA, Lee JS, Shin HR, Park JG", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "17827862", "url": "https://glygen.org/publication/PubMed/17827862" } ] }, { "title": "DNA repair genetic polymorphisms and risk of colorectal cancer in the Czech Republic.", "journal": "Mutation research", "date": "2008", "authors": "Pardini B, Naccarati A, Novotny J, Smerhovsky Z, Vodickova L, Polakova V, Hanova M, Slyskova J, Tulupova E, Kumar R, Bortlik M, Barale R, Hemminki K, Vodicka P", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "17991492", "url": "https://glygen.org/publication/PubMed/17991492" } ] }, { "title": "The hOGG1 Ser326Cys polymorphism and lung cancer risk: a meta-analysis.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2008", "authors": "Li H, Hao X, Zhang W, Wei Q, Chen K", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "18628426", "url": "https://glygen.org/publication/PubMed/18628426" } ] }, { "title": "Coordinating the initial steps of base excision repair. Apurinic/apyrimidinic endonuclease 1 actively stimulates thymine DNA glycosylase by disrupting the product complex.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Fitzgerald ME, Drohat AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "18805789", "url": "https://glygen.org/publication/PubMed/18805789" } ] }, { "title": "Cloning and characterization of a 3-methyladenine DNA glycosylase cDNA from human cells whose gene maps to chromosome 16.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Samson L, Derfler B, Boosalis M, Call K", "evidence": [ { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "1924375", "url": "https://glygen.org/publication/PubMed/1924375" } ] }, { "title": "Single-nucleotide polymorphisms of DNA repair genes OGG1 and XRCC1: association with gallbladder cancer in North Indian population.", "journal": "Annals of surgical oncology", "date": "2009", "authors": "Srivastava A, Srivastava K, Pandey SN, Choudhuri G, Mittal B", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "19266243", "url": "https://glygen.org/publication/PubMed/19266243" } ] }, { "title": "Ser326Cys polymorphism in DNA repair genes hOGG1 in breast cancer women.", "journal": "Polish journal of pathology : official journal of the Polish Society of Pathologists", "date": "2008", "authors": "Romanowicz-Makowska H, Smolarz B, Makowski M, Polac I, Pertynski T", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "19391486", "url": "https://glygen.org/publication/PubMed/19391486" } ] }, { "title": "The R46Q, R131Q and R154H polymorphs of human DNA glycosylase/beta-lyase hOgg1 severely distort the active site and DNA recognition site but do not cause unfolding.", "journal": "Journal of the American Chemical Society", "date": "2009", "authors": "Anderson PC, Daggett V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "19537786", "url": "https://glygen.org/publication/PubMed/19537786" } ] }, { "title": "Common polymorphisms in the XPD and hOGG1 genes are not associated with the risk of colorectal cancer in a Polish population.", "journal": "The Tohoku journal of experimental medicine", "date": "2009", "authors": "Sliwinski T, Krupa R, Wisniewska-Jarosinska M, Pawlowska E, Lech J, Chojnacki J, Blasiak J", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "19561388", "url": "https://glygen.org/publication/PubMed/19561388" } ] }, { "title": "hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type.", "journal": "Journal of human genetics", "date": "2009", "authors": "Okasaka T, Matsuo K, Suzuki T, Ito H, Hosono S, Kawase T, Watanabe M, Yatabe Y, Hida T, Mitsudomi T, Tanaka H, Yokoi K, Tajima K", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "19881468", "url": "https://glygen.org/publication/PubMed/19881468" } ] }, { "title": "Polymorphisms in hOGG1 and XRCC1 and risk of prostate cancer: effects modified by plasma antioxidants.", "journal": "Urology", "date": "2010", "authors": "Zhang J, Dhakal IB, Greene G, Lang NP, Kadlubar FF", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "19914697", "url": "https://glygen.org/publication/PubMed/19914697" } ] }, { "title": "The Cys326 allele of the 8-oxoguanine DNA N-glycosylase 1 gene as a risk factor in smoking- and drinking-associated larynx cancer.", "journal": "The Tohoku journal of experimental medicine", "date": "2009", "authors": "Pawlowska E, Janik-Papis K, Rydzanicz M, Zuk K, Kaczmarczyk D, Olszewski J, Szyfter K, Blasiak J, Morawiec-Sztandera A", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "19966524", "url": "https://glygen.org/publication/PubMed/19966524" } ] }, { "title": "Lack of association between the hOGG1 Ser326Cys polymorphism and breast cancer risk: evidence from 11 case-control studies.", "journal": "Breast cancer research and treatment", "date": "2010", "authors": "Gu D, Wang M, Zhang Z, Chen J", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "20054639", "url": "https://glygen.org/publication/PubMed/20054639" } ] }, { "title": "The hOGG1 Ser326Cys polymorphism and breast cancer risk: a meta-analysis.", "journal": "Breast cancer research and treatment", "date": "2010", "authors": "Yuan W, Xu L, Feng Y, Yang Y, Chen W, Wang J, Pang D, Li D", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "20058067", "url": "https://glygen.org/publication/PubMed/20058067" } ] }, { "title": "OGG1 Ser326Cys polymorphism and susceptibility to esophageal cancer in low and high at-risk populations of northern India.", "journal": "Journal of gastrointestinal cancer", "date": "2010", "authors": "Upadhyay R, Malik MA, Zargar SA, Mittal B", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "20069464", "url": "https://glygen.org/publication/PubMed/20069464" } ] }, { "title": "MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck cancer susceptibility: a case control study.", "journal": "Molecular biology reports", "date": "2011", "authors": "Sliwinski T, Przybylowska K, Markiewicz L, Rusin P, Pietruszewska W, Zelinska-Blizniewska H, Olszewski J, Morawiec-Sztandera A, Mlynarski W, Majsterek I", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "20571908", "url": "https://glygen.org/publication/PubMed/20571908" } ] }, { "title": "Lack of influence of DNA repair gene OGG1 codon 326 polymorphisms of gastric cancer risk in the Kashmir valley.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2010", "authors": "Malik MA, Zargar SA, Mittal B", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "20593951", "url": "https://glygen.org/publication/PubMed/20593951" } ] }, { "title": "DNA damage and repair in endometrial cancer in correlation with the hOGG1 and RAD51 genes polymorphism.", "journal": "Molecular biology reports", "date": "2011", "authors": "Krupa R, Sobczuk A, Poplawski T, Wozniak K, Blasiak J", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "20602259", "url": "https://glygen.org/publication/PubMed/20602259" } ] }, { "title": "Oxidative stress, Helicobacter pylori, and OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms in a Turkish population with colorectal carcinoma.", "journal": "Genetic testing and molecular biomarkers", "date": "2010", "authors": "Engin AB, Karahalil B, Engin A, Karakaya AE", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "20649433", "url": "https://glygen.org/publication/PubMed/20649433" } ] }, { "title": "HOGG1 polymorphism in atrophic gastritis and gastric cancer after Helicobacter pylori eradication.", "journal": "World journal of gastroenterology", "date": "2010", "authors": "Sun LM, Shang Y, Zeng YM, Deng YY, Cheng JF", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "20845517", "url": "https://glygen.org/publication/PubMed/20845517" } ] }, { "title": "hOGG1 Ser326Cys polymorphism and renal cell carcinoma risk in a Chinese population.", "journal": "DNA and cell biology", "date": "2011", "authors": "Zhao H, Qin C, Yan F, Wu B, Cao Q, Wang M, Zhang Z, Yin C", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21166493", "url": "https://glygen.org/publication/PubMed/21166493" } ] }, { "title": "8-Oxoguanine incision activity is impaired in lung tissues of NSCLC patients with the polymorphism of OGG1 and XRCC1 genes.", "journal": "Mutation research", "date": "2011", "authors": "Janik J, Swoboda M, Janowska B, Ciesla JM, Gackowski D, Kowalewski J, Olinski R, Tudek B, Speina E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "21376741", "url": "https://glygen.org/publication/PubMed/21376741" } ] }, { "title": "hOGG1 Ser326Cys polymorphism and risk of childhood acute lymphoblastic leukemia in a Chinese population.", "journal": "Cancer science", "date": "2011", "authors": "Li Q, Huang L, Rong L, Xue Y, Lu Q, Rui Y, Li J, Tong N, Wang M, Zhang Z, Fang Y", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21401806", "url": "https://glygen.org/publication/PubMed/21401806" } ] }, { "title": "[Meta analysis of association between Ser326Cys polymorphism of hOGG1 gene and risk of lung cancer].", "journal": "Zhongguo fei ai za zhi = Chinese journal of lung cancer", "date": "2011", "authors": "Qian Q, Liu R, Lei Z, You J, Zhou Q, Zhang HT", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21426661", "url": "https://glygen.org/publication/PubMed/21426661" } ] }, { "title": "Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.", "journal": "Current medical research and opinion", "date": "2011", "authors": "Canbay E, Cakmakoglu B, Zeybek U, Sozen S, Cacina C, Gulluoglu M, Balik E, Bulut T, Yamaner S, Bugra D", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21561390", "url": "https://glygen.org/publication/PubMed/21561390" } ] }, { "title": "Lack of association between hOGG1 Ser326Cys polymorphism and breast cancer susceptibility in European population.", "journal": "Breast cancer research and treatment", "date": "2011", "authors": "Ding DP, Zhang Y, He XF", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21614567", "url": "https://glygen.org/publication/PubMed/21614567" } ] }, { "title": "Association of OGG1 Ser326Cys polymorphism with colorectal cancer risk: a meta-analysis.", "journal": "International journal of colorectal disease", "date": "2011", "authors": "Zhang Y, He BS, Pan YQ, Xu YQ, Wang SK", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21695387", "url": "https://glygen.org/publication/PubMed/21695387" } ] }, { "title": "Thymine DNA glycosylase is essential for active DNA demethylation by linked deamination-base excision repair.", "journal": "Cell", "date": "2011", "authors": "Cortellino S, Xu J, Sannai M, Moore R, Caretti E, Cigliano A, Le Coz M, Devarajan K, Wessels A, Soprano D, Abramowitz LK, Bartolomei MS, Rambow F, Bassi MR, Bruno T, Fanciulli M, Renner C, Klein-Szanto AJ, Matsumoto Y, Kobi D, Davidson I, Alberti C, Larue L, Bellacosa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "21722948", "url": "https://glygen.org/publication/PubMed/21722948" } ] }, { "title": "Protective association exhibited by the single nucleotide polymorphism (SNP) rs1052133 in the gene human 8-oxoguanine DNA glycosylase (hOGG1) with the risk of squamous cell carcinomas of the head & neck (SCCHN) among north Indians.", "journal": "The Indian journal of medical research", "date": "2011", "authors": "Mitra AK, Singh SV, Garg VK, Sharma M, Chaturvedi R, Rath SK", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21727658", "url": "https://glygen.org/publication/PubMed/21727658" } ] }, { "title": "Association of the hOGG1 Ser326Cys polymorphism with increased lung cancer susceptibility in Asians: a meta-analysis of 18 studies including 7592 cases and 8129 controls.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2011", "authors": "Guan P, Huang D, Yin Z, Zhou B", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21790253", "url": "https://glygen.org/publication/PubMed/21790253" } ] }, { "title": "Single nucleotide polymorphism in DNA base excision repair genes XRCC1 and hOGG1 and the risk of endometrial carcinoma in the Polish population.", "journal": "Polish journal of pathology : official journal of the Polish Society of Pathologists", "date": "2011", "authors": "Romanowicz-Makowska H, Smolarz B, Houli A, Szyllo K", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21866464", "url": "https://glygen.org/publication/PubMed/21866464" } ] }, { "title": "DNA repair gene 8-oxoguanine DNA glycosylase Ser326Cys polymorphism and colorectal cancer risk in a Kashmiri population.", "journal": "DNA and cell biology", "date": "2012", "authors": "Sameer AS, Nissar S, Abdullah S, Chowdri NA, Siddiqi MA", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21899442", "url": "https://glygen.org/publication/PubMed/21899442" } ] }, { "title": "The hOGG1 Ser326Cys polymorphism and prostate cancer risk: a meta-analysis of 2584 cases and 3234 controls.", "journal": "BMC cancer", "date": "2011", "authors": "Zhang H, Xu Y, Zhang Z, Li L", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21914193", "url": "https://glygen.org/publication/PubMed/21914193" } ] }, { "title": "Role of OGG1 Ser326Cys polymorphism and 8-oxoguanine DNA damage in risk assessment of squamous cell carcinoma of head and neck in North Indian population.", "journal": "Mutation research", "date": "2011", "authors": "Kumar A, Pant MC, Singh HS, Khandelwal S", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "21986195", "url": "https://glygen.org/publication/PubMed/21986195" } ] }, { "title": "The effect of hOGG1 Ser326Cys polymorphism on cancer risk: evidence from a meta-analysis.", "journal": "PloS one", "date": "2011", "authors": "Wei B, Zhou Y, Xu Z, Xi B, Cheng H, Ruan J, Zhu M, Hu Q, Wang Q, Wang Z, Yan Z, Jin K, Zhou D, Xuan F, Huang X, Shao J, Lu P", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22114677", "url": "https://glygen.org/publication/PubMed/22114677" } ] }, { "title": "Lack of association between hOGG1 Ser326Cys polymorphism and the risk of bladder cancer: a meta-analysis.", "journal": "Urologia internationalis", "date": "2012", "authors": "Li D, Liu H, Yan L, Tang Y, Ren J, Xu Z", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22156293", "url": "https://glygen.org/publication/PubMed/22156293" } ] }, { "title": "Association of hOGG1 Ser326Cys polymorphism with gastric cancer risk: a meta-analysis.", "journal": "Molecular biology reports", "date": "2012", "authors": "Niu Y, Li F, Tang B, Shi Y, Yu P", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22294108", "url": "https://glygen.org/publication/PubMed/22294108" } ] }, { "title": "Lack of association between Human Oxoguanine Glycosylase 1 (hOGG1) S326C polymorphism and the risk of gastric cancer: a meta-analysis.", "journal": "Neoplasma", "date": "2012", "authors": "Ding R, Chen DJ, Lin SL", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22296498", "url": "https://glygen.org/publication/PubMed/22296498" } ] }, { "title": "HOGG1 Ser326Cys polymorphism and susceptibility to head and neck cancer: a meta-analysis.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2011", "authors": "Liu J, Cao XL, Zhang Z, Lei DP, Jin T, Yu XM, Pan XL", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22320944", "url": "https://glygen.org/publication/PubMed/22320944" } ] }, { "title": "The functional Ser326Cys polymorphism in hOGG1 is associated with gastric cancer risk: evidence from 1180 cases and 2444 controls.", "journal": "European journal of gastroenterology & hepatology", "date": "2012", "authors": "Ni M, Qiu J, He W, Wang X", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22343785", "url": "https://glygen.org/publication/PubMed/22343785" } ] }, { "title": "Repair of oxidative DNA damage is delayed in the Ser326Cys polymorphic variant of the base excision repair protein OGG1.", "journal": "Mutagenesis", "date": "2012", "authors": "Kershaw RM, Hodges NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "22451681", "url": "https://glygen.org/publication/PubMed/22451681" } ] }, { "title": "hOGG1 Ser326Cys polymorphism is associated with risk of bladder cancer in a Chinese population: a case-control study.", "journal": "Cancer science", "date": "2012", "authors": "Ma L, Chu H, Wang M, Shi D, Zhong D, Li P, Tong N, Yin C, Zhang Z", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22463382", "url": "https://glygen.org/publication/PubMed/22463382" } ] }, { "title": "Lack of association between the 8-oxoguanine DNA glycosylase gene Ser326Cys polymorphism and gastric cancer: evidence from a meta-analysis.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2011", "authors": "Wang Z, Hu J, Cai W, Zhong J", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22471492", "url": "https://glygen.org/publication/PubMed/22471492" } ] }, { "title": "Meta-analysis of the association between hOGG1 Ser326Cys polymorphism and risk of colorectal cancer based on case--control studies.", "journal": "Journal of cancer research and clinical oncology", "date": "2012", "authors": "Guo CL, Han FF, Wang HY, Wang L", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22526153", "url": "https://glygen.org/publication/PubMed/22526153" } ] }, { "title": "The association between OGG1 Ser326Cys polymorphism and lung cancer susceptibility: a meta-analysis of 27 studies.", "journal": "PloS one", "date": "2012", "authors": "Duan WX, Hua RX, Yi W, Shen LJ, Jin ZX, Zhao YH, Yi DH, Chen WS, Yu SQ", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22540013", "url": "https://glygen.org/publication/PubMed/22540013" } ] }, { "title": "Expression and purification of active mouse and human NEIL3 proteins.", "journal": "Protein expression and purification", "date": "2012", "authors": "Liu M, Bandaru V, Holmes A, Averill AM, Cannan W, Wallace SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "22569481", "url": "https://glygen.org/publication/PubMed/22569481" } ] }, { "title": "Lack of association between the hOGG1 Ser326Cys polymorphism and gastric cancer risk: a meta-analysis.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2012", "authors": "Li BR, Zhou GW, Bian Q, Song B", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22799296", "url": "https://glygen.org/publication/PubMed/22799296" } ] }, { "title": "Biochemical and structural characterization of the glycosylase domain of MBD4 bound to thymine and 5-hydroxymethyuracil-containing DNA.", "journal": "Nucleic acids research", "date": "2012", "authors": "Morera S, Grin I, Vigouroux A, Couve S, Henriot V, Saparbaev M, Ishchenko AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "22848106", "url": "https://glygen.org/publication/PubMed/22848106" } ] }, { "title": "An association between hOGG1 Ser326Cys polymorphism and the risk of bladder cancer in non-smokers: a meta-analysis.", "journal": "BMC cancer", "date": "2012", "authors": "Ji C, Liu Z, Chen H, Guo H, Liu C", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22857644", "url": "https://glygen.org/publication/PubMed/22857644" } ] }, { "title": "Cigarette smoking and hOGG1 Ser326Cys polymorphism are associated with 8-OHdG accumulation on mitochondrial DNA in thoracic esophageal squamous cell carcinoma.", "journal": "Annals of surgical oncology", "date": "2013", "authors": "Lin CS, Wang LS, Chou TY, Hsu WH, Lin HC, Lee SY, Lee MH, Chang SC, Wei YH", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "22941157", "url": "https://glygen.org/publication/PubMed/22941157" } ] }, { "title": "Excision of 5-hydroxymethyluracil and 5-carboxylcytosine by the thymine DNA glycosylase domain: its structural basis and implications for active DNA demethylation.", "journal": "Nucleic acids research", "date": "2012", "authors": "Hashimoto H, Hong S, Bhagwat AS, Zhang X, Cheng X", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "22962365", "url": "https://glygen.org/publication/PubMed/22962365" } ] }, { "title": "Impact of DNA polymorphisms in key DNA base excision repair proteins on cancer risk.", "journal": "Human & experimental toxicology", "date": "2012", "authors": "Karahalil B, Bohr VA, Wilson DM 3rd", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23023028", "url": "https://glygen.org/publication/PubMed/23023028" } ] }, { "title": "The APE1 Asp/Asp genotype and the combination of APE1 Asp/Asp and hOGG1-Cys variants are associated with increased p53 mutation in non-small cell lung cancer.", "journal": "Journal of epidemiology", "date": "2012", "authors": "Lin CH, Chen PM, Cheng YW, Chen CY, Yuan CJ, Lee H", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23038158", "url": "https://glygen.org/publication/PubMed/23038158" } ] }, { "title": "Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lung cancer risk: a meta-analysis.", "journal": "Molecular biology reports", "date": "2012", "authors": "Wei W, He XF, Qin JB, Su J, Li SX, Liu Y, Zhang Y, Wang W", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23065211", "url": "https://glygen.org/publication/PubMed/23065211" } ] }, { "title": "Meta-analysis demonstrates lack of association of the hOGG1 Ser326Cys polymorphism with bladder cancer risk.", "journal": "Genetics and molecular research : GMR", "date": "2012", "authors": "Zhong DY, Chu HY, Wang ML, Ma L, Shi DN, Zhang ZD", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23079842", "url": "https://glygen.org/publication/PubMed/23079842" } ] }, { "title": "No association between hOGG1 Ser326Cys polymorphism and hepatocellular carcinoma.", "journal": "Hepato-gastroenterology", "date": "2013", "authors": "Zhen-Bo T, An-Lin F, Ling L, Su-Fang Z", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23186590", "url": "https://glygen.org/publication/PubMed/23186590" } ] }, { "title": "Polymorphisms of excision repair gene XPD Lys751Gln and hOGG1 Ser326Cys might not be associated with hepatocellular carcinoma risk: a meta-analysis.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2013", "authors": "Zhang RC, Mou SH", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23271362", "url": "https://glygen.org/publication/PubMed/23271362" } ] }, { "title": "Is there any association between the Ser326Cys polymorphism of the 8-oxoguanine glycosylase 1 (OGG1) gene and risk of colon polyp and abnormal glucose tolerance in acromegaly patients?", "journal": "Genetic testing and molecular biomarkers", "date": "2013", "authors": "Zengi A, Karadeniz M, Cetintas VB, Harman E, Tetik A, Orman M, Eroglu Z, Cetinkalp S, Ozgen AG, Saygili F, Yilmaz C", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23368532", "url": "https://glygen.org/publication/PubMed/23368532" } ] }, { "title": "hOGG1 Ser326Cys polymorphism and risk of hepatocellular carcinoma among East Asians: a meta-analysis.", "journal": "PloS one", "date": "2013", "authors": "Wang W, Dang S, Li Y, Sun M, Jia X, Wang R, Liu J", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23577090", "url": "https://glygen.org/publication/PubMed/23577090" } ] }, { "title": "Human NEIL3 is mainly a monofunctional DNA glycosylase removing spiroimindiohydantoin and guanidinohydantoin.", "journal": "DNA repair", "date": "2013", "authors": "Krokeide SZ, Laerdahl JK, Salah M, Luna L, Cederkvist FH, Fleming AM, Burrows CJ, Dalhus B, Bjoras M", "evidence": [ { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "23755964", "url": "https://glygen.org/publication/PubMed/23755964" } ] }, { "title": "A meta-analysis of the association between the hOGG1 Ser326Cys polymorphism and the risk of esophageal squamous cell carcinoma.", "journal": "PloS one", "date": "2013", "authors": "Zhang J, Zhou J, Zhang P, Wang W, Tao S, Wang M", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23762419", "url": "https://glygen.org/publication/PubMed/23762419" } ] }, { "title": "Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis.", "journal": "Journal of the National Cancer Institute", "date": "2013", "authors": "Smith CG, West H, Harris R, Idziaszczyk S, Maughan TS, Kaplan R, Richman S, Quirke P, Seymour M, Moskvina V, Steinke V, Propping P, Hes FJ, Wijnen J, Cheadle JP", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23852950", "url": "https://glygen.org/publication/PubMed/23852950" } ] }, { "title": "The OGG1 Ser326Cys polymorphism and the risk of esophageal cancer: a meta-analysis.", "journal": "Genetic testing and molecular biomarkers", "date": "2013", "authors": "Wang Z, Gan L, Nie W, Geng Y", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23909557", "url": "https://glygen.org/publication/PubMed/23909557" } ] }, { "title": "The joint effect of hOGG1, APE1, and ADPRT polymorphisms and cooking oil fumes on the risk of lung adenocarcinoma in Chinese non-smoking females.", "journal": "PloS one", "date": "2013", "authors": "Xue X, Yin Z, Lu Y, Zhang H, Yan Y, Zhao Y, Li X, Cui Z, Yu M, Yao L, Zhou B", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "23951099", "url": "https://glygen.org/publication/PubMed/23951099" } ] }, { "title": "Smoking and hOGG1 Ser326Cys polymorphism contribute to lung cancer risk: evidence from a meta-analysis.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2014", "authors": "Yin ZB, Hua RX, Li JH, Sun C, Zhu JH, Su X, Ji C, Xiang Q, Hua ZM", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "24085357", "url": "https://glygen.org/publication/PubMed/24085357" } ] }, { "title": "Association of OGG1 Ser326Cys polymorphism and pancreatic cancer susceptibility: evidence from a meta-analysis.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2014", "authors": "Yan Y, Chen X, Li T, Li M, Liang H", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "24186001", "url": "https://glygen.org/publication/PubMed/24186001" } ] }, { "title": "Lung Cancer Susceptibility and hOGG1 Ser326Cys Polymorphism: A Meta-Analysis.", "journal": "Cancers", "date": "2010", "authors": "Kiyohara C, Takayama K, Nakanishi Y", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "24281202", "url": "https://glygen.org/publication/PubMed/24281202" } ] }, { "title": "hOGG1-Cys326 variant cells are hypersensitive to DNA repair inhibition by nitric oxide.", "journal": "Carcinogenesis", "date": "2014", "authors": "Moritz E, Pauly K, Bravard A, Hall J, Radicella JP, Epe B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "24632493", "url": "https://glygen.org/publication/PubMed/24632493" } ] }, { "title": "Association of DNA base excision repair genes (OGG1, APE1 and XRCC1) polymorphisms with outcome to platinum-based chemotherapy in advanced nonsmall-cell lung cancer patients.", "journal": "International journal of cancer", "date": "2014", "authors": "Peng Y, Li Z, Zhang S, Xiong Y, Cun Y, Qian C, Li M, Ren T, Xia L, Cheng Y, Wang D", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "24729390", "url": "https://glygen.org/publication/PubMed/24729390" } ] }, { "title": "Association between OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and breast cancer risk: a meta-analysis.", "journal": "Diagnostic pathology", "date": "2014", "authors": "Peng Q, Lu Y, Lao X, Chen Z, Li R, Sui J, Qin X, Li S", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "24893568", "url": "https://glygen.org/publication/PubMed/24893568" } ] }, { "title": "Pre-steady-state fluorescence analysis of damaged DNA transfer from human DNA glycosylases to AP endonuclease APE1.", "journal": "Biochimica et biophysica acta", "date": "2014", "authors": "Kuznetsova AA, Kuznetsov NA, Ishchenko AA, Saparbaev MK, Fedorova OS", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "25086253", "url": "https://glygen.org/publication/PubMed/25086253" } ] }, { "title": "Association of hOGG1 Ser326Cys polymorphism with colorectal cancer risk: an updated meta-analysis including 5235 cases and 8438 controls.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2014", "authors": "Zhang M, Mo R", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "25227662", "url": "https://glygen.org/publication/PubMed/25227662" } ] }, { "title": "The hOGG1 Ser326Cys polymorphism contributes to digestive system cancer susceptibility: evidence from 48 case-control studies.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2015", "authors": "Wang Y, Gao X, Wei F, Zhang X, Yu J, Zhao H, Sun Q, Yan F, Yan C, Li H, Ren X", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "25323581", "url": "https://glygen.org/publication/PubMed/25323581" } ] }, { "title": "OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data.", "journal": "Disease markers", "date": "2015", "authors": "Ali K, Mahjabeen I, Sabir M, Mehmood H, Kayani MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" }, { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "26089588", "url": "https://glygen.org/publication/PubMed/26089588" } ] }, { "title": "NEIL1 p.Gln282Stop variant is predominantly localized in the cytoplasm and exhibits reduced activity in suppressing mutations.", "journal": "Gene", "date": "2015", "authors": "Shinmura K, Kato H, Kawanishi Y, Goto M, Tao H, Inoue Y, Nakamura S, Sugimura H", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "26095805", "url": "https://glygen.org/publication/PubMed/26095805" } ] }, { "title": "Single nucleotide polymorphisms (SNPs) of hOGG1 and XRCC1 DNA repair genes and the risk of ovarian cancer in Polish women.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2015", "authors": "Michalska MM, Samulak D, Romanowicz H, Bienkiewicz J, Sobkowski M, Ciesielski K, Smolarz B", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "26124010", "url": "https://glygen.org/publication/PubMed/26124010" } ] }, { "title": "Association of hOGG1 Ser326Cys polymorphism with susceptibility to hepatocellular carcinoma.", "journal": "International journal of clinical and experimental medicine", "date": "2015", "authors": "Guo J, Yang J, Li Y", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "26309550", "url": "https://glygen.org/publication/PubMed/26309550" } ] }, { "title": "Lack of association between the hOGG1 gene Ser326Cys polymorphism and gastric cancer risk: evidence from a case-control study and a meta-analysis.", "journal": "Genetics and molecular research : GMR", "date": "2015", "authors": "Hu WG, Pan RJ, Cai W, Wang ZT, Zhu ZG", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "26600527", "url": "https://glygen.org/publication/PubMed/26600527" } ] }, { "title": "The Ser326Cys polymorphism of hOGG1 is associated with intrahepatic cholangiocarcinoma susceptibility in a Chinese population.", "journal": "International journal of clinical and experimental medicine", "date": "2015", "authors": "Ding X, Wang K, Wu Z, Yao A, Li J, Jiao C, Qian J, Bai D, Li X", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "26629147", "url": "https://glygen.org/publication/PubMed/26629147" } ] }, { "title": "Association between polymorphisms of APE1 and OGG1 and risk of colorectal cancer in Taiwan.", "journal": "World journal of gastroenterology", "date": "2016", "authors": "Lai CY, Hsieh LL, Tang R, Santella RM, Chang-Chieh CR, Yeh CC", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "27022219", "url": "https://glygen.org/publication/PubMed/27022219" } ] }, { "title": "Tautomerization-dependent recognition and excision of oxidation damage in base-excision DNA repair.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2016", "authors": "Zhu C, Lu L, Zhang J, Yue Z, Song J, Zong S, Liu M, Stovicek O, Gao YQ, Yi C", "evidence": [ { "database": "Reactome", "id": "R-HSA-110329", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110329" } ], "reference": [ { "type": "PubMed", "id": "27354518", "url": "https://glygen.org/publication/PubMed/27354518" } ] }, { "title": "The hOGG1 Ser326Cys gene polymorphism and susceptibility for bladder cancer: a meta-analysis.", "journal": "International braz j urol : official journal of the Brazilian Society of Urology", "date": "2016", "authors": "Wenjuan C, Jianzhong L, Chong L, Yanjun G, Keqing L, Hanzhang W, Zhiping W", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "27583352", "url": "https://glygen.org/publication/PubMed/27583352" } ] }, { "title": "The hOGG1 Ser326Cys Gene Polymorphism and Breast Cancer Risk in Saudi Population.", "journal": "Pathology oncology research : POR", "date": "2017", "authors": "Alanazi M, Pathan AAK, Shaik JP, Alhadheq A, Khan Z, Khan W, Al Naeem A, Parine NR", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "27822728", "url": "https://glygen.org/publication/PubMed/27822728" } ] }, { "title": "The mechanism of the glycosylase reaction with hOGG1 base-excision repair enzyme: concerted effect of Lys249 and Asp268 during excision of 8-oxoguanine.", "journal": "Nucleic acids research", "date": "2017", "authors": "Sebera J, Hattori Y, Sato D, Reha D, Nencka R, Kohno T, Kojima C, Tanaka Y, Sychrovsky V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "28334993", "url": "https://glygen.org/publication/PubMed/28334993" } ] }, { "title": "Is Human Oxoguanine Glycosylase 1 Genetic Variant Successful Even on Oral Squamous Cell Carcinoma?", "journal": "Pathobiology : journal of immunopathology, molecular and cellular biology", "date": "2017", "authors": "Aydemir L, Bireller ES, Avci H, Boy Metin Z, Deger K, Unur M, Cakmakoglu B", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "28448977", "url": "https://glygen.org/publication/PubMed/28448977" } ] }, { "title": "hOGG1 gene polymorphism and breast cancer risk: A systematic review and meta-analysis study.", "journal": "The breast journal", "date": "2018", "authors": "Sanjari Moghaddam A, Nazarzadeh M, Bidel Z, Karamatinia A, Darvish H, Mosavi Jarrahi A", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "28608470", "url": "https://glygen.org/publication/PubMed/28608470" } ] }, { "title": "NEIL3 Repairs Telomere Damage during S Phase to Secure Chromosome Segregation at Mitosis.", "journal": "Cell reports", "date": "2017", "authors": "Zhou J, Chan J, Lambele M, Yusufzai T, Stumpff J, Opresko PL, Thali M, Wallace SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "28854357", "url": "https://glygen.org/publication/PubMed/28854357" } ] }, { "title": "Cumulative meta-analysis and trial sequential analysis of correlation between hOGG1 Ser326Cys polymorphism and the risk of head and neck squamous cell carcinoma.", "journal": "Oncotarget", "date": "2018", "authors": "Yan Y, Deng AP, Chen W, Ming YH, Zeng XT, Leng WD", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "29560133", "url": "https://glygen.org/publication/PubMed/29560133" } ] }, { "title": "Association between OGG1 S326C CC genotype and elevated relapse risk in acute myeloid leukemia.", "journal": "International journal of hematology", "date": "2018", "authors": "Gotoh N, Saitoh T, Takahashi N, Kasamatsu T, Minato Y, Lobna A, Oda T, Hoshino T, Sakura T, Shimizu H, Takizawa M, Handa H, Yokohama A, Tsukamoto N, Murakami H", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "29737460", "url": "https://glygen.org/publication/PubMed/29737460" } ] }, { "title": "Impact of the Ser326Cys polymorphism of the OGG1 gene on the level of oxidative DNA damage in patients with colorectal cancer.", "journal": "Polski przeglad chirurgiczny", "date": "2018", "authors": "Kabzinski J, Walczak A, Dziki A, Mik M, Majsterek I", "evidence": [ { "database": "Entrez", "id": "4968", "url": "https://www.ncbi.nlm.nih.gov/gene/4968" } ], "reference": [ { "type": "PubMed", "id": "29773766", "url": "https://glygen.org/publication/PubMed/29773766" } ] }, { "title": "OGG1 in the Kidney: Beyond Base Excision Repair.", "journal": "Oxidative medicine and cellular longevity", "date": "2022", "authors": "Zhao Fan, Zhu Jiefu, Shi Lang, Wu Xiongfei", "evidence": [ { "database": "RefSeq", "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" } ], "reference": [ { "type": "PubMed", "id": "36620083", "url": "https://glygen.org/publication/PubMed/36620083" } ] }, { "title": "8-Oxoguanine DNA Glycosylase 1 Upregulation as a Risk Factor for Obesity and Colorectal Cancer.", "journal": "International journal of molecular sciences", "date": "2023-03-13", "authors": "Pilo Jes\u00fas, Garc\u00eda-Flores Libia Alejandra, Clemente-Postigo Mercedes, Arranz-Salas Isabel, Alcaide Julia, Ramos-Fernandez Maria, Lozano Jos\u00e9, Boughanem Hatim, Kompella Pallavi, Mac\u00edas-Gonz\u00e1lez Manuel", "evidence": [ { "database": "RefSeq", "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" } ], "reference": [ { "type": "PubMed", "id": "36982562", "url": "https://glygen.org/publication/PubMed/36982562" } ] }, { "title": "Mitochondrial OGG1 expression reduces age-associated neuroinflammation by regulating cytosolic mitochondrial DNA.", "journal": "Free radical biology & medicine", "date": "2023-04-01", "authors": "Hussain Mansoor, Chu Xixia, Duan Sahbaz Burcin, Gray Samuel, Pekhale Komal, Park Jae-Hyeon, Croteau Deborah L, Bohr Vilhelm A", "evidence": [ { "database": "RefSeq", "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" } ], "reference": [ { "type": "PubMed", "id": "37011700", "url": "https://glygen.org/publication/PubMed/37011700" } ] }, { "title": "Identification of key residues of the DNA glycosylase OGG1 controlling efficient DNA sampling and recruitment to oxidized bases in living cells.", "journal": "Nucleic acids research", "date": "2023-04-06", "authors": "D'Augustin Ostiane, Gaudon Virginie, Siberchicot Capucine, Smith Rebecca, Chapuis Catherine, Depagne Jordane, Veaute Xavier, Busso Didier, Di Guilmi Anne-Marie, Castaing Bertrand, Radicella J Pablo, Campalans Anna, Huet S\u00e9bastien", "evidence": [ { "database": "RefSeq", "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" } ], "reference": [ { "type": "PubMed", "id": "37021552", "url": "https://glygen.org/publication/PubMed/37021552" } ] }, { "title": "8-Oxoguanine DNA glycosylase 1 selectively modulates ROS-responsive NF-\u03baB targets through recruitment of MSK1 and phosphorylation of RelA/p65 at Ser276.", "journal": "The Journal of biological chemistry", "date": "2023-11", "authors": "Xue Yaoyao, Li Chunshuang, Deng Shihua, Chen Xin, Han Jinling, Zheng Xu, Tian Miaomiao, Hao Wenjing, Pan Lang, Boldogh Istvan, Ba Xueqing, Wang Ruoxi", "evidence": [ { "database": "RefSeq", "id": "NP_002533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002533" } ], "reference": [ { "type": "PubMed", "id": "37778730", "url": "https://glygen.org/publication/PubMed/37778730" } ] }, { "title": "Escherichia coli, Saccharomyces cerevisiae, rat and human 3-methyladenine DNA glycosylases repair 1,N6-ethenoadenine when present in DNA.", "journal": "Nucleic acids research", "date": "1995", "authors": "Saparbaev M, Kleibl K, Laval J", "evidence": [ { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "7479006", "url": "https://glygen.org/publication/PubMed/7479006" } ] }, { "title": "Excision of hypoxanthine from DNA containing dIMP residues by the Escherichia coli, yeast, rat, and human alkylpurine DNA glycosylases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Saparbaev M, Laval J", "evidence": [ { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "8016081", "url": "https://glygen.org/publication/PubMed/8016081" } ] }, { "title": "1,N6-ethenoadenine is preferred over 3-methyladenine as substrate by a cloned human N-methylpurine-DNA glycosylase (3-methyladenine-DNA glycosylase).", "journal": "Biochemistry", "date": "1994", "authors": "Dosanjh MK, Roy R, Mitra S, Singer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "8110764", "url": "https://glygen.org/publication/PubMed/8110764" } ] }, { "title": "Substrate specificity of the Escherichia coli endonuclease III: excision of thymine- and cytosine-derived lesions in DNA produced by radiation-generated free radicals.", "journal": "Biochemistry", "date": "1993", "authors": "Dizdaroglu M, Laval J, Boiteux S", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "8218289", "url": "https://glygen.org/publication/PubMed/8218289" } ] }, { "title": "Purification and characterization of human 3-methyladenine-DNA glycosylase.", "journal": "Nucleic acids research", "date": "1993", "authors": "O'Connor TR", "evidence": [ { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "8284199", "url": "https://glygen.org/publication/PubMed/8284199" } ] }, { "title": "The purification of a mismatch-specific thymine-DNA glycosylase from HeLa cells.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Neddermann P, Jiricny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "8407958", "url": "https://glygen.org/publication/PubMed/8407958" } ] }, { "title": "Structure of the human 3-methyladenine DNA glycosylase gene and localization close to the 16p telomere.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Vickers MA, Vyas P, Harris PC, Simmons DL, Higgs DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "8475094", "url": "https://glygen.org/publication/PubMed/8475094" } ] }, { "title": "Cloning and expression of human G/T mismatch-specific thymine-DNA glycosylase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Neddermann P, Gallinari P, Lettieri T, Schmid D, Truong O, Hsuan JJ, Wiebauer K, Jiricny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "8662714", "url": "https://glygen.org/publication/PubMed/8662714" } ] }, { "title": "Cloning and characterization of mammalian 8-hydroxyguanine-specific DNA glycosylase/apurinic, apyrimidinic lyase, a functional mutM homologue.", "journal": "Cancer Res.", "date": "1997", "authors": "Aburatani H, Hippo Y, Ishida T, Takashima R, Matsuba C, Kodama T, Takao M, Yasui A, Yamamoto K, Asano M", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "9187114", "url": "https://glygen.org/publication/PubMed/9187114" } ] }, { "title": "Cloning of a human homolog of the yeast OGG1 gene that is involved in the repair of oxidative DNA damage.", "journal": "Oncogene", "date": "1997", "authors": "Arai K, Morishita K, Shinmura K, Kohno T, Kim SR, Nohmi T, Taniwaki M, Ohwada S, Yokota J", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "9190902", "url": "https://glygen.org/publication/PubMed/9190902" } ] }, { "title": "A mammalian DNA repair enzyme that excises oxidatively damaged guanines maps to a locus frequently lost in lung cancer.", "journal": "Current biology : CB", "date": "1997", "authors": "Lu R, Nash HM, Verdine GL", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "9197244", "url": "https://glygen.org/publication/PubMed/9197244" } ] }, { "title": "Reconstitution of human base excision repair with purified proteins.", "journal": "Biochemistry", "date": "1997", "authors": "Nicholl ID, Nealon K, Kenny MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "9200707", "url": "https://glygen.org/publication/PubMed/9200707" } ] }, { "title": "Cloning and characterization of a mammalian 8-oxoguanine DNA glycosylase.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1997", "authors": "Rosenquist TA, Zharkov DO, Grollman AP", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "9207108", "url": "https://glygen.org/publication/PubMed/9207108" } ] }, { "title": "Cloning and characterization of hOGG1, a human homolog of the OGG1 gene of Saccharomyces cerevisiae.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1997", "authors": "Radicella JP, Dherin C, Desmaze C, Fox MS, Boiteux S", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "9223305", "url": "https://glygen.org/publication/PubMed/9223305" } ] }, { "title": "Molecular cloning and functional expression of a human cDNA encoding the antimutator enzyme 8-hydroxyguanine-DNA glycosylase.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1997", "authors": "Roldan-Arjona T, Wei YF, Carter KC, Klungland A, Anselmino C, Wang RP, Augustus M, Lindahl T", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "9223306", "url": "https://glygen.org/publication/PubMed/9223306" } ] }, { "title": "Opposite base-dependent reactions of a human base excision repair enzyme on DNA containing 7,8-dihydro-8-oxoguanine and abasic sites.", "journal": "EMBO J.", "date": "1997", "authors": "Bjoras M, Luna L, Johnsen B, Hoff E, Haug T, Rognes T, Seeberg E", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "9321410", "url": "https://glygen.org/publication/PubMed/9321410" } ] }, { "title": "The critical active-site amine of the human 8-oxoguanine DNA glycosylase, hOgg1: direct identification, ablation and chemical reconstitution.", "journal": "Chemistry & biology", "date": "1997", "authors": "Nash HM, Lu R, Lane WS, Verdine GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "9331411", "url": "https://glygen.org/publication/PubMed/9331411" } ] }, { "title": "Augmented expression of a human gene for 8-oxoguanine DNA glycosylase (MutM) in B lymphocytes of the dark zone in lymph node germinal centers.", "journal": "J. Exp. Med.", "date": "1997", "authors": "Kuo F C, Sklar J", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "9348312", "url": "https://glygen.org/publication/PubMed/9348312" } ] }, { "title": "Release of normal bases from intact DNA by a native DNA repair enzyme.", "journal": "The EMBO journal", "date": "1998", "authors": "Berdal KG, Johansen RF, Seeberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-110331", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110331" } ], "reference": [ { "type": "PubMed", "id": "9430628", "url": "https://glygen.org/publication/PubMed/9430628" } ] }, { "title": "Mutations in OGG1, a gene involved in the repair of oxidative DNA damage, are found in human lung and kidney tumours.", "journal": "Oncogene", "date": "1998", "authors": "Chevillard S, Radicella JP, Levalois C, Lebeau J, Poupon MF, Oudard S, Dutrillaux B, Boiteux S", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" }, { "database": "Reactome", "id": "R-HSA-9656256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256" } ], "reference": [ { "type": "PubMed", "id": "9662341", "url": "https://glygen.org/publication/PubMed/9662341" } ] }, { "title": "Purification and characterization of human NTH1, a homolog of Escherichia coli endonuclease III. Direct identification of Lys-212 as the active nucleophilic residue.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ikeda S, Biswas T, Roy R, Izumi T, Boldogh I, Kurosky A, Sarker AH, Seki S, Mitra S", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "9705289", "url": "https://glygen.org/publication/PubMed/9705289" } ] }, { "title": "Base excision repair initiation revealed by crystal structures and binding kinetics of human uracil-DNA glycosylase with DNA.", "journal": "The EMBO journal", "date": "1998", "authors": "Parikh SS, Mol CD, Slupphaug G, Bharati S, Krokan HE, Tainer JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-110357", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357" } ], "reference": [ { "type": "PubMed", "id": "9724657", "url": "https://glygen.org/publication/PubMed/9724657" } ] }, { "title": "Infrequent mutations of the hOGG1 gene, that is involved in the excision of 8-hydroxyguanine in damaged DNA, in human gastric cancer.", "journal": "Japanese journal of cancer research : Gann", "date": "1998", "authors": "Shinmura K, Kohno T, Kasai H, Koda K, Sugimura H, Yokota J", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "reference": [ { "type": "PubMed", "id": "9765618", "url": "https://glygen.org/publication/PubMed/9765618" } ] }, { "title": "Crystal structure of a human alkylbase-DNA repair enzyme complexed to DNA: mechanisms for nucleotide flipping and base excision.", "journal": "Cell", "date": "1998", "authors": "Lau AY, Scharer OD, Samson L, Verdine GL, Ellenberger T", "evidence": [ { "database": "Reactome", "id": "R-HSA-110330", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330" } ], "reference": [ { "type": "PubMed", "id": "9790531", "url": "https://glygen.org/publication/PubMed/9790531" } ] }, { "title": "A 55-kDa protein isolated from human cells shows DNA glycosylase activity toward 3,N4-ethenocytosine and the G/T mismatch.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Hang B, Medina M, Fraenkel-Conrat H, Singer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "9811839", "url": "https://glygen.org/publication/PubMed/9811839" } ] }, { "title": "Excision of products of oxidative DNA base damage by human NTH1 protein.", "journal": "Biochemistry", "date": "1999", "authors": "Dizdaroglu M, Karahalil B, Senturker S, Buckley TJ, Roldan-Arjona T", "evidence": [ { "database": "Reactome", "id": "R-HSA-110328", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328" } ], "reference": [ { "type": "PubMed", "id": "9890904", "url": "https://glygen.org/publication/PubMed/9890904" } ] } ], "pathway": [ { "id": "hsa:4968", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4968", "resource": "KEGG Pathway" }, { "id": "R-HSA-110328", "name": "Recognition and association of DNA glycosylase with site containing an affected pyrimidine", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110328", "resource": "Reactome", "description": "Recognition and association of DNA glycosylase with site containing an affected pyrimidine" }, { "id": "R-HSA-110329", "name": "Cleavage of the damaged pyrimidine", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110329", "resource": "Reactome", "description": "Cleavage of the damaged pyrimidine" }, { "id": "R-HSA-110330", "name": "Recognition and association of DNA glycosylase with site containing an affected purine", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110330", "resource": "Reactome", "description": "Recognition and association of DNA glycosylase with site containing an affected purine" }, { "id": "R-HSA-110331", "name": "Cleavage of the damaged purine", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110331", "resource": "Reactome", "description": "Cleavage of the damaged purine" }, { "id": "R-HSA-110357", "name": "Displacement of DNA glycosylase by APEX1", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-110357", "resource": "Reactome", "description": "Displacement of DNA glycosylase by APEX1" }, { "id": "R-HSA-5649702", "name": "APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5649702", "resource": "Reactome", "description": "APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway" }, { "id": "R-HSA-9656255", "name": "Defective OGG1 Substrate Binding", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656255", "resource": "Reactome", "description": "Defective OGG1 Substrate Binding" }, { "id": "R-HSA-9656256", "name": "Defective OGG1 Substrate Processing", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656256", "resource": "Reactome", "description": "Defective OGG1 Substrate Processing" } ], "orthologs": [ { "uniprot_canonical_ac": "O08760-1", "protein_name": "N-glycosylase/DNA lyase", "gene_name": "Ogg1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLFRSWLPSSMRHRTLSSSPALWASIPCPRSELRLDLVLASGQSFRWKEQSPAHWSGVLADQVWTLTQTEDQLYCTVYRGDDSQVSRPTLEELETLHKYFQLDVSLAQLYSHWASVDSHFQRVAQKFQGVRLLRQDPTECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPNLHALAGPEAETHLRKLGLGYRARYVRASAKAILEEQGGPAWLQQLRVAPYEEAHKALCTLPGVGAKVADCICLMALDKPQAVPVDVHVWQIAHRDYGWHPKTSQAKGPSPLANKELGNFFRNLWGPYAGWAQAVLFSADLRQPSLSREPPAKRKKGSKRPEG", "length": 345 }, "evidence": [ { "id": "45922254", "url": "http://www.informatics.jax.org/homology/45922254", "database": "MGI" }, { "id": "O15527", "url": "https://omabrowser.org/oma/group/O15527/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "O70249-1", "protein_name": "N-glycosylase/DNA lyase", "gene_name": "Ogg1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLFSSSLSSSMRHRTLTSSPALWASIPCPRSELRLDLVLASGQSFRWREQSPAHWSGVLADQVWTLTQTEDQLYCTVYRGDKGQVGRPTLEELETLHKYFQLDVSLTQLYSHWASVDSHFQSVAQKFQGVRLLRQDPTECLFSFICSSNNNIARITGMVERLCQAFGPRLVQLDDVTYHGFPNLHALAGPEVETHLRKLGLGYRARYVCASAKAILEEQGGPAWLQQLRVASYEEAHKALCTLPGVGTKVADCICLMALDKPQAVPVDIHVWQIAHRDYGWQPKTSQTKGPSPLANKELGNFFRNLWGPYAGWAQAVLFSADLRQQNLSREPPAKRKKGSKKTEG", "length": 345 }, "evidence": [ { "id": "45922254", "url": "http://www.informatics.jax.org/homology/45922254", "database": "MGI" }, { "id": "O15527", "url": "https://omabrowser.org/oma/group/O15527/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9V3I8-1", "protein_name": "N-glycosylase/DNA lyase", "gene_name": "Ogg1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLAHNLGFHKKRLFSNMKAVLQDRGVIGLSLEECDLERTLLGGQSFRWRSICDGNRTKYGGVVFNTYWVLQQEESFITYEAYGTSSPLATKDYSSLISDYLRVDFDLKVNQKDWLSKDDNFVKFLSKPVRLLSQEPFENIFSFLCSQNNNIKRISSMIEWFCATFGTKIGHFNGADAYTFPTINRFHDIPCEDLNAQLRAAKFGYRAKFIAQTLQEIQKKGGQNWFISLKSMPFEKAREELTLLPGIGYKVADCICLMSMGHLESVPVDIHIYRIAQNYYLPHLTGQKNVTKKIYEEVSKHFQKLHGKYAGWAQAILFSADLSQFQNTSTVACKKKSNKKPKK", "length": 343 }, "evidence": [ { "id": "O15527", "url": "https://omabrowser.org/oma/group/O15527/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "oxidized purine DNA binding", "id": "GO:0032357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032357", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "8-oxo-7,8-dihydroguanine DNA N-glycosylase activity", "id": "GO:0034039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034039", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "class I DNA-(apurinic or apyrimidinic site) endonuclease activity", "id": "GO:0140078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140078", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "oxidized purine nucleobase lesion DNA N-glycosylase activity", "id": "GO:0008534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008534", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 20, "go_terms": [ { "name": "negative regulation of double-strand break repair via single-strand annealing", "id": "GO:1901291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901291", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "depurination", "id": "GO:0045007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045007", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "cellular response to cadmium ion", "id": "GO:0071276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071276", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "response to radiation", "id": "GO:0009314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009314", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "response to folic acid", "id": "GO:0051593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051593", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "base-excision repair, AP site formation", "id": "GO:0006285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006285", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "depyrimidination", "id": "GO:0045008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045008", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "organic substance metabolic process", "id": "GO:0071704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071704", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "cellular response to stimulus", "id": "GO:0051716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051716", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O15527", "url": "https://www.uniprot.org/uniprot/O15527" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "66592", "name": "", "equation": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZVH2-1", "D3ZKJ8-1", "D4A4E8-1", "O70249-1", "P62909-1", "P06766-1", "Q969S2-1", "O15527-1", "P23396-1", "P78549-1", "Q8TAT5-1", "Q13686-1", "Q96FI4-1", "P06746-1", "P0CB42-1", "P62908-1", "O08760-1", "O35980-1", "Q8K203-1", "Q8K4Q6-1", "Q6R2P8-1", "Q8K409-1", "P31378-1", "P53397-1", "Q08214-1", "Q54CZ3-1", "Q1ZXF2-1", "Q86K43-1", "Q9V3I8-1", "Q9VIH0-1" ], "evidence": [ { "id": "66592", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/66592" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "D3ZKJ8", "gene_name": "Neil3", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "D3ZKJ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZKJ8" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "D3ZKJ8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZKJ8" } ] } ] }, { "uniprot_ac": "D3ZVH2", "gene_name": "RGD1560831", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "D3ZVH2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZVH2" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "D3ZVH2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZVH2" } ] } ] }, { "uniprot_ac": "D4A4E8", "gene_name": "Nthl1", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "D4A4E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A4E8" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "D4A4E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A4E8" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "D4A4E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A4E8" } ] } ] }, { "uniprot_ac": "O08760", "gene_name": "Ogg1", "activity": [ { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "O08760", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08760" } ] }, { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "O08760", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08760" } ] } ] }, { "uniprot_ac": "O15527", "gene_name": "OGG1", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "O15527", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15527" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "O15527", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15527" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "O15527", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15527" } ] } ] }, { "uniprot_ac": "O35980", "gene_name": "Nthl1", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "O35980", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35980" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "O35980", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35980" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "O35980", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35980" } ] } ] }, { "uniprot_ac": "O70249", "gene_name": "Ogg1", "activity": [ { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "O70249", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70249" } ] }, { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "O70249", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70249" } ] } ] }, { "uniprot_ac": "P06746", "gene_name": "POLB", "activity": [ { "ec_number": "2.7.7.7", "activity": "a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1).", "evidence": [ { "id": "P06746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06746" } ] }, { "ec_number": "2.7.7.7", "activity": "", "evidence": [ { "id": "P06746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06746" } ] }, { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "P06746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06746" } ] }, { "ec_number": "4.2.99.-", "activity": "", "evidence": [ { "id": "P06746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06746" } ] } ] }, { "uniprot_ac": "P06766", "gene_name": "Polb", "activity": [ { "ec_number": "2.7.7.7", "activity": "a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1).", "evidence": [ { "id": "P06766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06766" } ] }, { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "P06766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06766" } ] }, { "ec_number": "4.2.99.-", "activity": "", "evidence": [ { "id": "P06766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06766" } ] }, { "ec_number": "2.7.7.7", "activity": "", "evidence": [ { "id": "P06766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06766" } ] } ] }, { "uniprot_ac": "P0CB42", "gene_name": "Alkbh1", "activity": [ { "ec_number": "1.14.11.51", "activity": "2-oxoglutarate + an N(6)-methyl-2'-deoxyadenosine in DNA + O2 = a 2'-deoxyadenosine in DNA + CO2 + formaldehyde + succinate.", "evidence": [ { "id": "P0CB42", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0CB42" } ] }, { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "P0CB42", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0CB42" } ] }, { "ec_number": "1.14.11.-", "activity": "", "evidence": [ { "id": "P0CB42", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0CB42" } ] }, { "ec_number": "1.14.11.33", "activity": "2-oxoglutarate + a methylated nucleobase within DNA + O2 = a nucleobase within DNA + CO2 + formaldehyde + succinate.", "evidence": [ { "id": "P0CB42", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0CB42" } ] } ] }, { "uniprot_ac": "P23396", "gene_name": "RPS3", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "P23396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23396" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "P23396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23396" } ] } ] }, { "uniprot_ac": "P31378", "gene_name": "NTG1", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "P31378", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P31378" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "P31378", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P31378" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "P31378", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P31378" } ] } ] }, { "uniprot_ac": "P53397", "gene_name": "OGG1", "activity": [ { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "P53397", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53397" } ] }, { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "P53397", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53397" } ] } ] }, { "uniprot_ac": "P62908", "gene_name": "Rps3", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "P62908", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62908" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "P62908", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62908" } ] } ] }, { "uniprot_ac": "P62909", "gene_name": "Rps3", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "P62909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62909" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "P62909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62909" } ] } ] }, { "uniprot_ac": "P78549", "gene_name": "NTHL1", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "P78549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78549" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "P78549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78549" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "P78549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78549" } ] } ] }, { "uniprot_ac": "Q08214", "gene_name": "NTG2", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q08214", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08214" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q08214", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08214" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "Q08214", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08214" } ] } ] }, { "uniprot_ac": "Q13686", "gene_name": "ALKBH1", "activity": [ { "ec_number": "1.14.11.51", "activity": "2-oxoglutarate + an N(6)-methyl-2'-deoxyadenosine in DNA + O2 = a 2'-deoxyadenosine in DNA + CO2 + formaldehyde + succinate.", "evidence": [ { "id": "Q13686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13686" } ] }, { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q13686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13686" } ] }, { "ec_number": "1.14.11.-", "activity": "", "evidence": [ { "id": "Q13686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13686" } ] }, { "ec_number": "1.14.11.33", "activity": "2-oxoglutarate + a methylated nucleobase within DNA + O2 = a nucleobase within DNA + CO2 + formaldehyde + succinate.", "evidence": [ { "id": "Q13686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13686" } ] } ] }, { "uniprot_ac": "Q1ZXF2", "gene_name": "polB", "activity": [ { "ec_number": "2.7.7.7", "activity": "a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1).", "evidence": [ { "id": "Q1ZXF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q1ZXF2" } ] }, { "ec_number": "2.7.7.7", "activity": "", "evidence": [ { "id": "Q1ZXF2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q1ZXF2" } ] } ] }, { "uniprot_ac": "Q54CZ3", "gene_name": "ogg1", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q54CZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54CZ3" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "Q54CZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54CZ3" } ] } ] }, { "uniprot_ac": "Q6R2P8", "gene_name": "Neil2", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q6R2P8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6R2P8" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "Q6R2P8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6R2P8" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q6R2P8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6R2P8" } ] } ] }, { "uniprot_ac": "Q86K43", "gene_name": "NTH1", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q86K43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86K43" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q86K43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86K43" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "Q86K43", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86K43" } ] } ] }, { "uniprot_ac": "Q8K203", "gene_name": "Neil3", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q8K203", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K203" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q8K203", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K203" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "Q8K203", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K203" } ] } ] }, { "uniprot_ac": "Q8K409", "gene_name": "Polb", "activity": [ { "ec_number": "2.7.7.7", "activity": "a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1).", "evidence": [ { "id": "Q8K409", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K409" } ] }, { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q8K409", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K409" } ] }, { "ec_number": "4.2.99.-", "activity": "", "evidence": [ { "id": "Q8K409", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K409" } ] }, { "ec_number": "2.7.7.7", "activity": "", "evidence": [ { "id": "Q8K409", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K409" } ] } ] }, { "uniprot_ac": "Q8K4Q6", "gene_name": "Neil1", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q8K4Q6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K4Q6" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q8K4Q6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K4Q6" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "Q8K4Q6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K4Q6" } ] } ] }, { "uniprot_ac": "Q8TAT5", "gene_name": "NEIL3", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q8TAT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TAT5" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q8TAT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TAT5" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "Q8TAT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TAT5" } ] } ] }, { "uniprot_ac": "Q969S2", "gene_name": "NEIL2", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q969S2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q969S2" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q969S2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q969S2" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "Q969S2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q969S2" } ] } ] }, { "uniprot_ac": "Q96FI4", "gene_name": "NEIL1", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q96FI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96FI4" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q96FI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96FI4" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "Q96FI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96FI4" } ] } ] }, { "uniprot_ac": "Q9V3I8", "gene_name": "Ogg1", "activity": [ { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q9V3I8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3I8" } ] }, { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q9V3I8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3I8" } ] } ] }, { "uniprot_ac": "Q9VIH0", "gene_name": "Nthl1", "activity": [ { "ec_number": "4.2.99.18", "activity": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+).", "evidence": [ { "id": "Q9VIH0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VIH0" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q9VIH0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VIH0" } ] }, { "ec_number": "4.2.99.18", "activity": "", "evidence": [ { "id": "Q9VIH0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VIH0" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 285, 326 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 187 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }