{ "uniprot_canonical_ac": "P04818-1", "uniprot_ac": "P04818", "uniprot_id": "TYSY_HUMAN", "mass": { "chemical_mass": 35716.0, "monoisotopic_mass": 35716.0 }, "refseq": { "ac": "NP_001062", "name": "thymidylate synthase isoform 1", "summary": "Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062" }, "gene_names": [ { "name": "TYMS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04818", "id": "P04818" }, { "name": "DKCD; HST422; TMS; TS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062", "id": "NP_001062" }, { "name": "SW-cl.29", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04818", "id": "P04818" }, { "name": "TS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04818", "id": "P04818" }, { "name": "TYMS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062", "id": "NP_001062" } ], "protein_names": [ { "name": "Thymidylate synthase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04818" }, { "name": "2.1.1.45", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04818" }, { "name": "TSase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062", "id": "NP_001062" }, { "name": "TSase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04818" }, { "name": "TS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04818" }, { "name": "thymidylate synthase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062", "id": "NP_001062" } ], "function": [ { "annotation": "Association of Thymidylate Synthase (TS) Gene Polymorphisms with Incidence and Prognosis of Coronary Artery Disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062" }, { "database": "PubMed", "id": "37628769", "url": "https://glygen.org/publication/PubMed/37628769" } ] }, { "annotation": "Catalyzes the reductive methylation of 2'-deoxyuridine 5'-monophosphate (dUMP) to thymidine 5'-monophosphate (dTMP), using the cosubstrate, 5,10- methylenetetrahydrofolate (CH2H4folate) as a 1-carbon donor and reductant and contributes to the de novo mitochondrial thymidylate biosynthesis pathway.", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818#function" }, { "database": "PubMed", "id": "21876188", "url": "https://glygen.org/publication/PubMed/21876188" }, { "database": "PubMed", "id": "11278511", "url": "https://glygen.org/publication/PubMed/11278511" } ] }, { "annotation": "RTS gene expression likely plays a role in down-regulating TS through a natural RNA-based antisense mechanism. Review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062" }, { "database": "PubMed", "id": "12084460", "url": "https://glygen.org/publication/PubMed/12084460" } ] }, { "annotation": "TYMS promotes genomic instability and tumor progression in Ink4a/Arf null background.", "evidence": [ { "database": "RefSeq", "id": "NP_001062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062" }, { "database": "PubMed", "id": "37106126", "url": "https://glygen.org/publication/PubMed/37106126" } ] }, { "annotation": "Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062" } ] } ], "disease": [ { "disease_id": "MONDO:0031057", "recommended_name": { "id": "MONDO:0031057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031057", "name": "dyskeratosis congenita, digenic", "description": "" }, "synonyms": [ { "id": "MONDO:0031057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031057", "name": "DKCD", "description": "" }, { "id": "MONDO:0031057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031057", "name": "dyskeratosis congenita, digenic", "description": "" }, { "id": "MIM:620040", "resource": "MIM", "url": "https://www.omim.org/entry/620040", "name": "Dyskeratosis congenita, digenic", "description": "Dyskeratosis congenita, digenic" } ], "evidence": [ { "id": "620040", "database": "MIM", "url": "https://www.omim.org/entry/620040" } ] } ], "snv": [ { "evidence": [ { "id": "P04818", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04818" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 227, "end_pos": 227, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (IAS->NAS).", "chr_id": "18", "chr_pos": "670815", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I227", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs559346114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559346114" }, { "id": "rs559346114", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs559346114" }, { "id": "rs559346114", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559346114" }, { "id": "rs559346114", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs559346114#frequency_tab" }, { "id": "rs559346114", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs559346114" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 228, "end_pos": 228, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIA->NIS).", "chr_id": "18", "chr_pos": "670817", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "A228", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04818", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04818" }, { "id": "rs559346114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559346114" }, { "id": "rs559346114", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs559346114" }, { "id": "rs559346114", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559346114" }, { "id": "rs559346114", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs559346114#frequency_tab" }, { "id": "rs559346114", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs559346114" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 228, "end_pos": 228, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "18", "chr_pos": "670817", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A228", "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", "ebi", "germline" ] }, { "evidence": [ { "id": "rs761730468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761730468" }, { "id": "rs761730468", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761730468" }, { "id": "rs761730468", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761730468" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 262, "end_pos": 262, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHI->NHS).", "chr_id": "18", "chr_pos": "671432", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I262", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "57.69", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "77.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "91.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "65.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "72.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "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": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "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": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "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": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "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": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "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": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P04818", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04818" } ], "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": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "common_name": "Human" } ], "gene": [ { "name": "TYMS", "url": "https://www.uniprot.org/uniprot/P04818", "locus": { "chromosome": "18", "start_pos": 20896, "end_pos": 5001, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_783", "url": "https://www.ensembl.org/id/LRG_783" } ] } } ], "crossref": [ { "id": "ENSG00000176890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176890", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P04818", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04818", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "2.1.1.45", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.1.1.45&UniProtAcc=P04818", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00351", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00351", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL1952", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1952", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "TYMS", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TYMS", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "7298", "url": "https://www.ncbi.nlm.nih.gov/gene/7298", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "12441", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12441", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P04818", "url": "https://www.ebi.ac.uk/intact/interactors/id:P04818*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000398", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000398", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020940", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020940", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023451", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023451", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036926", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036926", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045097", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045097", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7298", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7298", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "188350", "url": "http://www.omim.org/entry/188350", "database": "MIM", "categories": [ "Other" ] }, { "id": "620040", "url": "http://www.omim.org/entry/620040", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P04818", "url": "https://www.nextprot.org/entry/NX_P04818", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P04818", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04818", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KQYLDLC", "url": "https://omabrowser.org/oma/group/KQYLDLC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1118873at2759", "url": "http://www.orthodb.org/?query=1118873at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11548", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11548", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11548:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11548:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1HVY", "url": "https://www.rcsb.org/structure/1HVY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1HW3", "url": "https://www.rcsb.org/structure/1HW3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1HW4", "url": "https://www.rcsb.org/structure/1HW4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1HZW", "url": "https://www.rcsb.org/structure/1HZW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1I00", "url": "https://www.rcsb.org/structure/1I00", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1JU6", "url": "https://www.rcsb.org/structure/1JU6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1JUJ", "url": "https://www.rcsb.org/structure/1JUJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1YPV", "url": "https://www.rcsb.org/structure/1YPV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2ONB", "url": "https://www.rcsb.org/structure/2ONB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2RD8", "url": "https://www.rcsb.org/structure/2RD8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2RDA", "url": "https://www.rcsb.org/structure/2RDA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EAW", "url": "https://www.rcsb.org/structure/3EAW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EBU", "url": "https://www.rcsb.org/structure/3EBU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3ED7", "url": "https://www.rcsb.org/structure/3ED7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EDW", "url": "https://www.rcsb.org/structure/3EDW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EF9", "url": "https://www.rcsb.org/structure/3EF9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EGY", "url": "https://www.rcsb.org/structure/3EGY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EHI", "url": "https://www.rcsb.org/structure/3EHI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3EJL", "url": "https://www.rcsb.org/structure/3EJL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GG5", "url": "https://www.rcsb.org/structure/3GG5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GH0", "url": "https://www.rcsb.org/structure/3GH0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GH2", "url": "https://www.rcsb.org/structure/3GH2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3H9K", "url": "https://www.rcsb.org/structure/3H9K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HB8", "url": "https://www.rcsb.org/structure/3HB8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3N5E", "url": "https://www.rcsb.org/structure/3N5E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3N5G", "url": "https://www.rcsb.org/structure/3N5G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3OB7", "url": "https://www.rcsb.org/structure/3OB7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4E28", "url": "https://www.rcsb.org/structure/4E28", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4FGT", "url": "https://www.rcsb.org/structure/4FGT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4G2O", "url": "https://www.rcsb.org/structure/4G2O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4G6W", "url": "https://www.rcsb.org/structure/4G6W", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4GD7", "url": "https://www.rcsb.org/structure/4GD7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4GYH", "url": "https://www.rcsb.org/structure/4GYH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4H1I", "url": "https://www.rcsb.org/structure/4H1I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4JEF", "url": "https://www.rcsb.org/structure/4JEF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4KPW", "url": "https://www.rcsb.org/structure/4KPW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4O1U", "url": "https://www.rcsb.org/structure/4O1U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4O1X", "url": "https://www.rcsb.org/structure/4O1X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4UP1", "url": "https://www.rcsb.org/structure/4UP1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5HS3", "url": "https://www.rcsb.org/structure/5HS3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5WRN", "url": "https://www.rcsb.org/structure/5WRN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5X4W", "url": "https://www.rcsb.org/structure/5X4W", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5X4X", "url": "https://www.rcsb.org/structure/5X4X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5X4Y", "url": "https://www.rcsb.org/structure/5X4Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5X5A", "url": "https://www.rcsb.org/structure/5X5A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5X5D", "url": "https://www.rcsb.org/structure/5X5D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5X5Q", "url": "https://www.rcsb.org/structure/5X5Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5X66", "url": "https://www.rcsb.org/structure/5X66", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5X67", "url": "https://www.rcsb.org/structure/5X67", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5X69", "url": "https://www.rcsb.org/structure/5X69", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6OJU", "url": "https://www.rcsb.org/structure/6OJU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6OJV", "url": "https://www.rcsb.org/structure/6OJV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6PF3", "url": "https://www.rcsb.org/structure/6PF3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6PF4", "url": "https://www.rcsb.org/structure/6PF4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6PF5", "url": "https://www.rcsb.org/structure/6PF5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6PF6", "url": "https://www.rcsb.org/structure/6PF6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QXG", "url": "https://www.rcsb.org/structure/6QXG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QXH", "url": "https://www.rcsb.org/structure/6QXH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QYQ", "url": "https://www.rcsb.org/structure/6QYQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6R2E", "url": "https://www.rcsb.org/structure/6R2E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6ZXO", "url": "https://www.rcsb.org/structure/6ZXO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00303", "url": "http://pfam.xfam.org/family/PF00303", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P04818", "url": "https://pharos.nih.gov/targets/P04818", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P04818", "url": "http://purl.obolibrary.org/obo/PR_P04818", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "12104", "url": "https://www.rhea-db.org/rhea/12104", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04818-1", "url": "https://www.uniprot.org/uniprot/P04818-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04818-2", "url": "https://www.uniprot.org/uniprot/P04818-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04818-3", "url": "https://www.uniprot.org/uniprot/P04818-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPVAGSELPRRPLPPAAQERDAEPRPPHGELQYLGQIQHILRCGVRKDDRTGTGTLSVFGMQARYSLRDEFPLLTTKRVFWKGVLEELLWFIKGSTNAKELSSKGVKIWDANGSRDFLDSLGFSTREEGDLGPVYGFQWRHFGAEYRDMESDYSGQGVDQLQRVIDTIKTNPDDRRIIMCAWNPRDLPLMALPPCHALCQFYVVNSELSCQLYQRSGDMGLGVPFNIASYALLTYMIAHITGLKPGDFIHTLGDAHIYLNHIEPLKIQLQREPRPFPKLRILRKVEKIDDFKAEDFQIEGYNPHPTIKMEMAV", "length": 313, "header": "sp|P04818-1|TYSY_HUMAN Isoform 1 of Thymidylate synthase OS=Homo sapiens OX=9606 GN=TYMS PE=1 SV=3 CANONICAL=P04818-1" }, "isoforms": [ { "isoform_ac": "P04818-1", "url": "", "sequence": { "sequence": "MPVAGSELPRRPLPPAAQERDAEPRPPHGELQYLGQIQHILRCGVRKDDRTGTGTLSVFGMQARYSLRDEFPLLTTKRVFWKGVLEELLWFIKGSTNAKELSSKGVKIWDANGSRDFLDSLGFSTREEGDLGPVYGFQWRHFGAEYRDMESDYSGQGVDQLQRVIDTIKTNPDDRRIIMCAWNPRDLPLMALPPCHALCQFYVVNSELSCQLYQRSGDMGLGVPFNIASYALLTYMIAHITGLKPGDFIHTLGDAHIYLNHIEPLKIQLQREPRPFPKLRILRKVEKIDDFKAEDFQIEGYNPHPTIKMEMAV", "length": 313, "header": "sp|P04818-1|TYSY_HUMAN Isoform 1 of Thymidylate synthase OS=Homo sapiens OX=9606 GN=TYMS PE=1 SV=3 CANONICAL=P04818-1" }, "locus": { "chromosome": "18", "start_pos": 672994, "end_pos": 657743, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000323274.15", "url": "https://www.ensembl.org/id/ENST00000323274.15" }, { "database": "Ensembl Peptide", "id": "ENSP00000315644.10", "url": "https://www.ensembl.org/id/ENSP00000315644.10" } ] } }, { "isoform_ac": "P04818-2", "url": "", "sequence": { "sequence": "MPVAGSELPRRPLPPAAQERDAEPRPPHGELQYLGQIQHILRCGVRKDDRTGTGTLSVFGMQARYSLRDEFPLLTTKRVFWKGVLEELLWFIKGSTNAKELSSKGVKIWDANGSRDFLDSLGFSTREEGDLGPVYGFQWRHFGAEYRDMESDLPLMALPPCHALCQFYVVNSELSCQLYQRSGDMGLGVPFNIASYALLTYMIAHITGLKPGDFIHTLGDAHIYLNHIEPLKIQLQREPRPFPKLRILRKVEKIDDFKAEDFQIEGYNPHPTIKMEMAV", "length": 279, "header": "sp|P04818-2|TYSY_HUMAN Isoform 2 of Thymidylate synthase OS=Homo sapiens OX=9606 GN=TYMS PE=1 SV=3 CANONICAL=P04818-1" }, "locus": { "chromosome": "18", "start_pos": 672994, "end_pos": 657743, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000323224.7", "url": "https://www.ensembl.org/id/ENST00000323224.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000314727.7", "url": "https://www.ensembl.org/id/ENSP00000314727.7" } ] } }, { "isoform_ac": "P04818-3", "url": "", "sequence": { "sequence": "MPVAGSELPRRPLPPAAQERDAEPRPPHGELQYLGQIQHILRCGVRKDDRTGTGTLSVFGMQARYSLRDYSGQGVDQLQRVIDTIKTNPDDRRIIMCAWNPRDLPLMALPPCHALCQFYVVNSELSCQLYQRSGDMGLGVPFNIASYALLTYMIAHITGLKPGDFIHTLGDAHIYLNHIEPLKIQLQREPRPFPKLRILRKVEKIDDFKAEDFQIEGYNPHPTIKMEMAV", "length": 230, "header": "sp|P04818-3|TYSY_HUMAN Isoform 3 of Thymidylate synthase OS=Homo sapiens OX=9606 GN=TYMS PE=1 SV=3 CANONICAL=P04818-1" }, "locus": { "chromosome": "18", "start_pos": 672994, "end_pos": 657743, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000323250.9", "url": "https://www.ensembl.org/id/ENST00000323250.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000314902.5", "url": "https://www.ensembl.org/id/ENSP00000314902.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 251, "start_aa": "Thr", "end_pos": 251, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr251", "evidence": [ { "id": "P04818", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04818" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34845374", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34845374" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 306, "start_aa": "Thr", "end_pos": 306, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr306", "evidence": [ { "id": "P04818", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04818" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34845374", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34845374" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 114, "end_pos": 114, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P04818", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04818" } ], "site_lbl": "Ser114" }, { "start_pos": 153, "end_pos": 153, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04818", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04818" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ], "site_lbl": "Tyr153" }, { "start_pos": 6, "end_pos": 6, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04818", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04818" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser6" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of a novel human adenylate kinase. cDNA cloning, expression analysis, chromosome localization and characterization of the recombinant protein.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Van Rompay AR, Johansson M, Karlsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "10215863", "url": "https://glygen.org/publication/PubMed/10215863" } ] }, { "title": "E2F mediates developmental and cell cycle regulation of ORC1 in Drosophila.", "journal": "The EMBO journal", "date": "1999", "authors": "Asano M, Wharton RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10228158", "url": "https://glygen.org/publication/PubMed/10228158" } ] }, { "title": "CDC25A phosphatase is a target of E2F and is required for efficient E2F-induced S phase.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Vigo E, Muller H, Prosperini E, Hateboer G, Cartwright P, Moroni MC, Helin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10454584", "url": "https://glygen.org/publication/PubMed/10454584" } ] }, { "title": "Association of Pur alpha and E2F-1 suppresses transcriptional activity of E2F-1.", "journal": "Oncogene", "date": "1999", "authors": "Darbinian N, Gallia GL, Kundu M, Shcherbik N, Tretiakova A, Giordano A, Khalili K", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10597240", "url": "https://glygen.org/publication/PubMed/10597240" } ] }, { "title": "Cdk2-dependent and -independent pathways in E2F-mediated S phase induction.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Arata Y, Fujita M, Ohtani K, Kijima S, Kato JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10692433", "url": "https://glygen.org/publication/PubMed/10692433" } ] }, { "title": "A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage.", "journal": "Nature", "date": "2000", "authors": "Tanaka H, Arakawa H, Yamaguchi T, Shiraishi K, Fukuda S, Matsui K, Takei Y, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "10716435", "url": "https://glygen.org/publication/PubMed/10716435" } ] }, { "title": "The human nm23-H4 gene product is a mitochondrial nucleoside diphosphate kinase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Milon L, Meyer P, Chiadmi M, Munier A, Johansson M, Karlsson A, Lascu I, Capeau J, Janin J, Lacombe ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "10799505", "url": "https://glygen.org/publication/PubMed/10799505" } ] }, { "title": "Cross-talk between the allosteric effector-binding sites in mouse ribonucleotide reductase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Reichard P, Eliasson R, Ingemarson R, Thelander L", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "10884394", "url": "https://glygen.org/publication/PubMed/10884394" } ] }, { "title": "Identification of a cDNA encoding an isoform of human CTP synthetase.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "van Kuilenburg AB, Meinsma R, Vreken P, Waterham HR, van Gennip AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "10899599", "url": "https://glygen.org/publication/PubMed/10899599" } ] }, { "title": "Structural and catalytic properties and homology modelling of the human nucleoside diphosphate kinase C, product of the DRnm23 gene.", "journal": "European journal of biochemistry", "date": "2001", "authors": "Erent M, Gonin P, Cherfils J, Tissier P, Raschella G, Giartosio A, Agou F, Sarger C, Lacombe ML, Konrad M, Lascu I", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "11277919", "url": "https://glygen.org/publication/PubMed/11277919" } ] }, { "title": "Structure of human thymidylate synthase suggests advantages of chemotherapy with noncompetitive inhibitors.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Phan J, Steadman DJ, Koli S, Ding WC, Minor W, Dunlap RB, Berger SH, Lebioda L", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" }, { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "11278511", "url": "https://glygen.org/publication/PubMed/11278511" } ] }, { "title": "Human thymidylate synthase is in the closed conformation when complexed with dUMP and raltitrexed, an antifolate drug.", "journal": "Biochemistry", "date": "2001", "authors": "Phan J, Koli S, Minor W, Dunlap R B, Berger S H, Lebioda L", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "reference": [ { "type": "PubMed", "id": "11329255", "url": "https://glygen.org/publication/PubMed/11329255" } ] }, { "title": "Mammalian p53R2 protein forms an active ribonucleotide reductase in vitro with the R1 protein, which is expressed both in resting cells in response to DNA damage and in proliferating cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Guittet O, Hakansson P, Voevodskaya N, Fridd S, Graslund A, Arakawa H, Nakamura Y, Thelander L", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "11517226", "url": "https://glygen.org/publication/PubMed/11517226" } ] }, { "title": "Structure and function of the radical enzyme ribonucleotide reductase.", "journal": "Progress in biophysics and molecular biology", "date": "2001", "authors": "Eklund H, Uhlin U, Farnegardh M, Logan DT, Nordlund P", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "11796141", "url": "https://glygen.org/publication/PubMed/11796141" } ] }, { "title": "Characterization of human UMP/CMP kinase and its phosphorylation of D- and L-form deoxycytidine analogue monophosphates.", "journal": "Cancer research", "date": "2002", "authors": "Liou JY, Dutschman GE, Lam W, Jiang Z, Cheng YC", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "11912132", "url": "https://glygen.org/publication/PubMed/11912132" } ] }, { "title": "E2F mediates cell cycle-dependent transcriptional repression in vivo by recruitment of an HDAC1/mSin3B corepressor complex.", "journal": "Genes & development", "date": "2002", "authors": "Rayman JB, Takahashi Y, Indjeian VB, Dannenberg JH, Catchpole S, Watson RJ, te Riele H, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "11959842", "url": "https://glygen.org/publication/PubMed/11959842" } ] }, { "title": "E2F-dependent accumulation of hEmi1 regulates S phase entry by inhibiting APC(Cdh1).", "journal": "Nature cell biology", "date": "2002", "authors": "Hsu JY, Reimann JD, Sorensen CS, Lukas J, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "11988738", "url": "https://glygen.org/publication/PubMed/11988738" } ] }, { "title": "Natural antisense (rTSalpha) RNA induces site-specific cleavage of thymidylate synthase mRNA.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Chu J, Dolnick BJ", "evidence": [ { "database": "RefSeq", "id": "NP_001062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062" } ], "reference": [ { "type": "PubMed", "id": "12084460", "url": "https://glygen.org/publication/PubMed/12084460" } ] }, { "title": "Differential alternative splicing expressions of thymidylate synthase isoforms.", "journal": "Cancer Lett.", "date": "2003", "authors": "Hisatomi Hisashi, Tanemura Hiromi, Iizuka Toshiro, Katsumata Kenji, Nagao Kumi, Sumida Hitomi, Udagawa Harushi, Hikiji Kazumasa", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "reference": [ { "type": "PubMed", "id": "12706868", "url": "https://glygen.org/publication/PubMed/12706868" } ] }, { "title": "An E2F site in the 5'-promoter region contributes to serum-dependent up-regulation of the human proliferating cell nuclear antigen gene.", "journal": "FEBS letters", "date": "2003", "authors": "Li YY, Wang L, Lu CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "12782299", "url": "https://glygen.org/publication/PubMed/12782299" } ] }, { "title": "Nucleotide binding to nucleoside diphosphate kinases: X-ray structure of human NDPK-A in complex with ADP and comparison to protein kinases.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Chen Y, Gallois-Montbrun S, Schneider B, Veron M, Morera S, Deville-Bonne D, Janin J", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "12972261", "url": "https://glygen.org/publication/PubMed/12972261" } ] }, { "title": "Enzymatic phosphorylation of nucleoside diphosphates.", "journal": "The Journal of biological chemistry", "date": "1954", "authors": "BERG P, JOKLIK WK", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "13211603", "url": "https://glygen.org/publication/PubMed/13211603" } ] }, { "title": "In vitro characterization of enzymatic properties and inhibition of the p53R2 subunit of human ribonucleotide reductase.", "journal": "Cancer research", "date": "2004", "authors": "Shao J, Zhou B, Zhu L, Qiu W, Yuan YC, Xi B, Yen Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "14729598", "url": "https://glygen.org/publication/PubMed/14729598" } ] }, { "title": "Regulation of Geminin and Cdt1 expression by E2F transcription factors.", "journal": "Oncogene", "date": "2004", "authors": "Yoshida K, Inoue I", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "14990995", "url": "https://glygen.org/publication/PubMed/14990995" } ] }, { "title": "Combinatorial gene control involving E2F and E Box family members.", "journal": "The EMBO journal", "date": "2004", "authors": "Giangrande PH, Zhu W, Rempel RE, Laakso N, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "15014447", "url": "https://glygen.org/publication/PubMed/15014447" } ] }, { "title": "E2Fs link the control of G1/S and G2/M transcription.", "journal": "The EMBO journal", "date": "2004", "authors": "Zhu W, Giangrande PH, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "15510213", "url": "https://glygen.org/publication/PubMed/15510213" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P04818-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04818-1" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "The crystal structure of human adenylate kinase 6: An adenylate kinase localized to the cell nucleus.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Ren H, Wang L, Bennett M, Liang Y, Zheng X, Lu F, Li L, Nan J, Luo M, Eriksson S, Zhang C, Su XD", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "15630091", "url": "https://glygen.org/publication/PubMed/15630091" } ] }, { "title": "Expression of Human CTP synthetase in Saccharomyces cerevisiae reveals phosphorylation by protein kinase A.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Han GS, Sreenivas A, Choi MG, Chang YF, Martin SS, Baldwin EP, Carman GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "16179339", "url": "https://glygen.org/publication/PubMed/16179339" } ] }, { "title": "A dityrosyl-diiron radical cofactor center is essential for human ribonucleotide reductases.", "journal": "Molecular cancer therapeutics", "date": "2005", "authors": "Zhou B, Shao J, Su L, Yuan YC, Qi C, Shih J, Xi B, Chu B, Yen Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "16373698", "url": "https://glygen.org/publication/PubMed/16373698" } ] }, { "title": "Ribonucleotide reductases.", "journal": "Annual review of biochemistry", "date": "2006", "authors": "Nordlund P, Reichard P", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "16756507", "url": "https://glygen.org/publication/PubMed/16756507" } ] }, { "title": "Structure of the synthetase domain of human CTP synthetase, a target for anticancer therapy.", "journal": "Acta crystallographica. Section F, Structural biology and crystallization communications", "date": "2006", "authors": "Kursula P, Flodin S, Ehn M, Hammarstrom M, Schuler H, Nordlund P, Stenmark P", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "16820675", "url": "https://glygen.org/publication/PubMed/16820675" } ] }, { "title": "Crystal structure of RS21-C6, involved in nucleoside triphosphate pyrophosphohydrolysis.", "journal": "Journal of molecular biology", "date": "2007", "authors": "Wu B, Liu Y, Zhao Q, Liao S, Zhang J, Bartlam M, Chen W, Rao Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "17320107", "url": "https://glygen.org/publication/PubMed/17320107" } ] }, { "title": "Studies on the properties and tissue distribution of the isozymes of guanylate kinase in man.", "journal": "Human heredity", "date": "1975", "authors": "Jamil T, Fisher RA, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "177353", "url": "https://glygen.org/publication/PubMed/177353" } ] }, { "title": "Cloning and characterization of AtNUDT13, a novel mitochondrial Arabidopsis thaliana Nudix hydrolase specific for long-chain diadenosine polyphosphates.", "journal": "The FEBS journal", "date": "2007", "authors": "Olejnik K, Murcha MW, Whelan J, Kraszewska E", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "17824959", "url": "https://glygen.org/publication/PubMed/17824959" } ] }, { "title": "Human thymidylate kinase. Purification, characterization, and kinetic behavior of the thymidylate kinase derived from chronic myelocytic leukemia.", "journal": "The Journal of biological chemistry", "date": "1977", "authors": "Lee LS, Cheng Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "18469", "url": "https://glygen.org/publication/PubMed/18469" } ] }, { "title": "Nucleoside diphosphate kinase from human erythrocytes. Structural characterization of the two polypeptide chains responsible for heterogeneity of the hexameric enzyme.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Gilles AM, Presecan E, Vonica A, Lascu I", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "1851158", "url": "https://glygen.org/publication/PubMed/1851158" } ] }, { "title": "The nucleoside diphosphate kinase D (NM23-H4) binds the inner mitochondrial membrane with high affinity to cardiolipin and couples nucleotide transfer with respiration.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Tokarska-Schlattner M, Boissan M, Munier A, Borot C, Mailleau C, Speer O, Schlattner U, Lacombe ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "18635542", "url": "https://glygen.org/publication/PubMed/18635542" } ] }, { "title": "Ribonucleotide reduction is a cytosolic process in mammalian cells independently of DNA damage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Pontarin G, Fijolek A, Pizzo P, Ferraro P, Rampazzo C, Pozzan T, Thelander L, Reichard PA, Bianchi V", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "18997010", "url": "https://glygen.org/publication/PubMed/18997010" } ] }, { "title": "Molecular mechanisms of thioredoxin and glutaredoxin as hydrogen donors for Mammalian s phase ribonucleotide reductase.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Zahedi Avval F, Holmgren A", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "19176520", "url": "https://glygen.org/publication/PubMed/19176520" } ] }, { "title": "Mouse RS21-C6 is a mammalian 2'-deoxycytidine 5'-triphosphate pyrophosphohydrolase that prefers 5-iodocytosine.", "journal": "The FEBS journal", "date": "2009", "authors": "Nonaka M, Tsuchimoto D, Sakumi K, Nakabeppu Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "19220460", "url": "https://glygen.org/publication/PubMed/19220460" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" }, { "database": "iPTMnet", "id": "P04818", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04818" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Evidence of an intact N-terminal translocation sequence of human mitochondrial adenylate kinase 4.", "journal": "The international journal of biochemistry & cell biology", "date": "2010", "authors": "Panayiotou C, Solaroli N, Johansson M, Karlsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "19766732", "url": "https://glygen.org/publication/PubMed/19766732" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P04818-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04818-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes.", "journal": "The Biochemical journal", "date": "2011", "authors": "Panayiotou C, Solaroli N, Xu Y, Johansson M, Karlsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "21080915", "url": "https://glygen.org/publication/PubMed/21080915" } ] }, { "title": "AMP (dAMP) kinase from human erythrocytes.", "journal": "Methods in enzymology", "date": "1978", "authors": "Tsuboi KK", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "211388", "url": "https://glygen.org/publication/PubMed/211388" } ] }, { "title": "Guanylate kinases from human erythrocytes, hog brain, and rat liver.", "journal": "Methods in enzymology", "date": "1978", "authors": "Agarwal KC, Miech RP, Parks RE Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "211390", "url": "https://glygen.org/publication/PubMed/211390" } ] }, { "title": "Identification of a de novo thymidylate biosynthesis pathway in mammalian mitochondria.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Anderson DD, Quintero CM, Stover PJ", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "reference": [ { "type": "PubMed", "id": "21876188", "url": "https://glygen.org/publication/PubMed/21876188" } ] }, { "title": "Structural and functional analysis of the human thymidylate synthase gene.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Kaneda S, Nalbantoglu J, Takeishi K, Shimizu K, Gotoh O, Seno T, Ayusawa D", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "reference": [ { "type": "PubMed", "id": "2243092", "url": "https://glygen.org/publication/PubMed/2243092" } ] }, { "title": "Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Pontarin G, Ferraro P, Bee L, Reichard P, Bianchi V", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "22847445", "url": "https://glygen.org/publication/PubMed/22847445" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" }, { "database": "iPTMnet", "id": "P04818", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04818" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04818", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04818" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase.", "journal": "The international journal of biochemistry & cell biology", "date": "2013", "authors": "Amiri M, Conserva F, Panayiotou C, Karlsson A, Solaroli N", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "23416111", "url": "https://glygen.org/publication/PubMed/23416111" } ] }, { "title": "Human thymidylate synthase gene: isolation of phage clones which cover a functionally active gene and structural analysis of the region upstream from the translation initiation codon.", "journal": "J. Biochem.", "date": "1989", "authors": "Takeishi K, Kaneda S, Ayusawa D, Shimizu K, Gotoh O, Seno T", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "reference": [ { "type": "PubMed", "id": "2532645", "url": "https://glygen.org/publication/PubMed/2532645" } ] }, { "title": "Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Matsuura S, Igarashi M, Tanizawa Y, Yamada M, Kishi F, Kajii T, Fujii H, Miwa S, Sakurai M, Nakazawa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "2542324", "url": "https://glygen.org/publication/PubMed/2542324" } ] }, { "title": "Expression of human thymidylate synthase in Escherichia coli.", "journal": "J. Biol. Chem.", "date": "1989", "authors": "Davisson VJ, Sirawaraporn W, Santi DV", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" }, { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "2656695", "url": "https://glygen.org/publication/PubMed/2656695" } ] }, { "title": "Thioredoxin and glutaredoxin systems.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Holmgren A", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "2668278", "url": "https://glygen.org/publication/PubMed/2668278" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04818", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04818" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Nucleotide sequence of a functional cDNA for human thymidylate synthase.", "journal": "Nucleic Acids Res.", "date": "1985", "authors": "Takeishi K, Kaneda S, Ayusawa D, Shimizu K, Gotoh O, Seno T", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "reference": [ { "type": "PubMed", "id": "2987839", "url": "https://glygen.org/publication/PubMed/2987839" } ] }, { "title": "TYMS presents a novel biomarker for diagnosis and prognosis in patients with pancreatic cancer.", "journal": "Medicine", "date": "2019", "authors": "Fu Z, Jiao Y, Li Y, Ji B, Jia B, Liu B", "evidence": [ { "database": "GlyGen", "id": "A0201", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "31861032", "url": "https://glygen.org/publication/PubMed/31861032" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04818", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04818" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Thymidylate synthase O-GlcNAcylation: a molecular mechanism of 5-FU sensitization in colorectal cancer.", "journal": "Oncogene", "date": "2022", "authors": "Very N, Hardiville S, Decourcelle A, Thevenet J, Djouina M, Page A, Vergoten G, Schulz C, Kerr-Conte J, Lefebvre T, Dehennaut V, El Yazidi-Belkoura I", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04818", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04818" } ], "reference": [ { "type": "PubMed", "id": "34845374", "url": "https://glygen.org/publication/PubMed/34845374" } ] }, { "title": "Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.", "journal": "American journal of human genetics", "date": "2022", "authors": "Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "reference": [ { "type": "PubMed", "id": "35931051", "url": "https://glygen.org/publication/PubMed/35931051" } ] }, { "title": "TYMS promotes genomic instability and tumor progression in Ink4a/Arf null background.", "journal": "Oncogene", "date": "2023-04-27", "authors": "Guijarro Maria V, Nawab Akbar, Dib Peter, Burkett Sandra, Luo Xiaoping, Feely Michael, Nasri Elham, Seifert Robert P, Kaye Frederic J, Zajac-Kaye Maria", "evidence": [ { "database": "RefSeq", "id": "NP_001062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062" } ], "reference": [ { "type": "PubMed", "id": "37106126", "url": "https://glygen.org/publication/PubMed/37106126" } ] }, { "title": "Association of Thymidylate Synthase (TS) Gene Polymorphisms with Incidence and Prognosis of Coronary Artery Disease.", "journal": "International journal of molecular sciences", "date": "2023-08-09", "authors": "Kim Jung Oh, Ryu Chang Soo, Lee Jeong Yong, Ko Eun Ju, Ha Yong Hyun, Sung Jung Hoon, Hwang Tae Sun, Kim In Jai, Kim Nam Keun", "evidence": [ { "database": "RefSeq", "id": "NP_001062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001062" } ], "reference": [ { "type": "PubMed", "id": "37628769", "url": "https://glygen.org/publication/PubMed/37628769" } ] }, { "title": "Purification and NH2-terminal amino acid sequence of human thymidylate synthase in an overproducing transformant of mouse FM3A cells.", "journal": "J. Biochem.", "date": "1985", "authors": "Shimizu K, Ayusawa D, Takeishi K, Seno T", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "reference": [ { "type": "PubMed", "id": "3839505", "url": "https://glygen.org/publication/PubMed/3839505" } ] }, { "title": "Kinetics and equilibria of pyrimidine nucleoside monophosphate kinase from human erythrocytes.", "journal": "Biochimica et biophysica acta", "date": "1979", "authors": "Scott EM, Wright RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "40615", "url": "https://glygen.org/publication/PubMed/40615" } ] }, { "title": "Rat liver adenosine triphosphate: adenosine monophosphate phosphotransferase activity. II. Subcellular localization of adenylate kinase isozymes.", "journal": "The Journal of biological chemistry", "date": "1970", "authors": "Criss WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "5484814", "url": "https://glygen.org/publication/PubMed/5484814" } ] }, { "title": "Adenosine triphosphate-adenosine-5'-monophosphate phosphotransferase from normal human liver mitochondria. Isolation, chemical properties, and immunochemical comparison with Duchenne dystrophic serum aberrant adenylate kinase.", "journal": "The Journal of biological chemistry", "date": "1982", "authors": "Hamada M, Sumida M, Okuda H, Watanabe T, Nojima M, Kuby SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "6182143", "url": "https://glygen.org/publication/PubMed/6182143" } ] }, { "title": "Phosphorylation of acyclovir (acycloguanosine) monophosphate by GMP kinase.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Miller WH, Miller RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "6248551", "url": "https://glygen.org/publication/PubMed/6248551" } ] }, { "title": "Cellular targets for activation by the E2F1 transcription factor include DNA synthesis- and G1/S-regulatory genes.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "DeGregori J, Kowalik T, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "7623816", "url": "https://glygen.org/publication/PubMed/7623816" } ] }, { "title": "Primary structure of human deoxycytidylate deaminase and overexpression of its functional protein in Escherichia coli.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Weiner KX, Weiner RS, Maley F, Maley GF", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "7685356", "url": "https://glygen.org/publication/PubMed/7685356" } ] }, { "title": "Purification from placenta, amino acid sequence, structure comparisons and cDNA cloning of human glutaredoxin.", "journal": "European journal of biochemistry", "date": "1995", "authors": "Padilla CA, Martinez-Galisteo E, Barcena JA, Spyrou G, Holmgren A", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "7851394", "url": "https://glygen.org/publication/PubMed/7851394" } ] }, { "title": "The role of cellular transcription factor E2F in the regulation of cdc2 mRNA expression and cell cycle control of human hematopoietic cells.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Furukawa Y, Terui Y, Sakoe K, Ohta M, Saito M", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "7929342", "url": "https://glygen.org/publication/PubMed/7929342" } ] }, { "title": "Functional properties of a Drosophila homolog of the E2F1 gene.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Ohtani K, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "8114698", "url": "https://glygen.org/publication/PubMed/8114698" } ] }, { "title": "G1/S-regulated E2F-containing protein complexes bind to the mouse thymidine kinase gene promoter.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Dou QP, Zhao S, Levin AH, Wang J, Helin K, Pardee AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "8288595", "url": "https://glygen.org/publication/PubMed/8288595" } ] }, { "title": "Properties of an affinity-column-purified human deoxycytidylate deaminase.", "journal": "Biochimica et biophysica acta", "date": "1993", "authors": "Maley GF, Lobo AP, Maley F", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "8448179", "url": "https://glygen.org/publication/PubMed/8448179" } ] }, { "title": "Regulation of the cyclin E gene by transcription factor E2F1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Ohtani K, DeGregori J, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "8618861", "url": "https://glygen.org/publication/PubMed/8618861" } ] }, { "title": "Cloning, characterization, and modeling of mouse and human guanylate kinases.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Brady WA, Kokoris MS, Fitzgibbon M, Black ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "8663313", "url": "https://glygen.org/publication/PubMed/8663313" } ] }, { "title": "Crystal structure of human thymidylate synthase: a structural mechanism for guiding substrates into the active site.", "journal": "Biochemistry", "date": "1995", "authors": "Schiffer C A, Clifton I J, Davisson V J, Santi D V, Stroud R M", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "reference": [ { "type": "PubMed", "id": "8845352", "url": "https://glygen.org/publication/PubMed/8845352" } ] }, { "title": "Expression of the HsOrc1 gene, a human ORC1 homolog, is regulated by cell proliferation via the E2F transcription factor.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Ohtani K, DeGregori J, Leone G, Herendeen DR, Kelly TJ, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "8943353", "url": "https://glygen.org/publication/PubMed/8943353" } ] }, { "title": "Accumulation of E2F-4.DP-1 DNA binding complexes correlates with induction of dhfr gene expression during the G1 to S phase transition.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Wells JM, Illenye S, Magae J, Wu CL, Heintz NH", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "9020173", "url": "https://glygen.org/publication/PubMed/9020173" } ] }, { "title": "Substrate specificity of human nucleoside-diphosphate kinase revealed by transient kinetic analysis.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Schaertl S, Konrad M, Geeves MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "9488696", "url": "https://glygen.org/publication/PubMed/9488696" } ] }, { "title": "Cdc6 is regulated by E2F and is essential for DNA replication in mammalian cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Yan Z, DeGregori J, Shohet R, Leone G, Stillman B, Nevins JR, Williams RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "9520412", "url": "https://glygen.org/publication/PubMed/9520412" } ] }, { "title": "A new model of cell cycle-regulated transcription: repression of the cyclin A promoter by CDF-1 and anti-repression by E2F.", "journal": "Oncogene", "date": "1998", "authors": "Liu N, Lucibello FC, Engeland K, Muller R", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "9662327", "url": "https://glygen.org/publication/PubMed/9662327" } ] }, { "title": "The NMR solution structure of human glutaredoxin in the fully reduced form.", "journal": "Journal of molecular biology", "date": "1998", "authors": "Sun C, Berardi MJ, Bushweller JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-499943", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943" } ], "reference": [ { "type": "PubMed", "id": "9677297", "url": "https://glygen.org/publication/PubMed/9677297" } ] }, { "title": "Regulation of cell growth-dependent expression of mammalian CDC6 gene by the cell cycle transcription factor E2F.", "journal": "Oncogene", "date": "1998", "authors": "Ohtani K, Tsujimoto A, Ikeda M, Nakamura M", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "9778043", "url": "https://glygen.org/publication/PubMed/9778043" } ] } ], "pathway": [ { "id": "hsa:7298", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7298", "resource": "KEGG Pathway" }, { "id": "R-HSA-499943", "name": "Interconversion of nucleotide di- and triphosphates", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-499943", "resource": "Reactome", "description": "Interconversion of nucleotide di- and triphosphates" }, { "id": "R-HSA-69205", "name": "G1/S-Specific Transcription", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205", "resource": "Reactome", "description": "G1/S-Specific Transcription" } ], "orthologs": [ { "uniprot_canonical_ac": "O76511-1", "protein_name": "Thymidylate synthase", "gene_name": "Ts", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MVLTPTKDGPDQESMPLPADNGESPSKQQAPVNRDEMHYLDLLRHIIANGEQRMDRTEVGTLSVFGSQMRFDMRNSFPLLTTKRVFFRAVAEELLWFVAGKTDAKLLQAKNVHIWDGNSSREFLDKMGFTGRAVGDLGPVYGFQWRHFGAQYGTCDDDYSGKGIDQLRQVIDTIRNNPSDRRIIMSAWNPLDIPKMALPPCHCLAQFYVSEKRGELSCQLYQRSADMGLGVPFNIASYALLTHMIAHVTGLKPGDFVHTMGDTHVYLNHVEPLKEQLERTPRPFPKLIIKRQVQDIEDFRFEDFQIVDYNPHPKIQMDMAV", "length": 321 }, "evidence": [ { "id": "P04818", "url": "https://omabrowser.org/oma/group/P04818/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "P06785-1", "protein_name": "Thymidylate synthase", "gene_name": "CDC21", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MTMDGKNKEEEQYLDLCKRIIDEGEFRPDRTGTGTLSLFAPPQLRFSLRDDTFPLLTTKKVFTRGIILELLWFLAGDTDANLLSEQGVKIWDGNGSREYLDKMGFKDRKVGDLGPVYGFQWRHFGAKYKTCDDDYTGQGIDQLKQVIHKLKTNPYDRRIIMSAWNPADFDKMALPPCHIFSQFYVSFPKEGEGSGKPRLSCLLYQRSCDMGLGVPFNIASYALLTRMIAKVVDMEPGEFIHTLGDAHVYKDHIDALKEQITRNPRPFPKLKIKRDVKDIDDFKLTDFEIEDYNPHPRIQMKMSV", "length": 304 }, "evidence": [ { "id": "P04818", "url": "https://omabrowser.org/oma/group/P04818/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P07607-1", "protein_name": "Thymidylate synthase", "gene_name": "Tyms", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLVVGSELQSDAQQLSAEAPRHGELQYLRQVEHILRCGFKKEDRTGTGTLSVFGMQARYSLRDEFPLLTTKRVFWKGVLEELLWFIKGSTNAKELSSKGVRIWDANGSRDFLDSLGFSARQEGDLGPVYGFQWRHFGAEYKDMDSDYSGQGVDQLQKVIDTIKTNPDDRRIIMCAWNPKDLPLMALPPCHALCQFYVVNGELSCQLYQRSGDMGLGVPFNIASYALLTYMIAHITGLQPGDFVHTLGDAHIYLNHIEPLKIQLQREPRPFPKLKILRKVETIDDFKVEDFQIEGYNPHPTIKMEMAV", "length": 307 }, "evidence": [ { "id": "45925129", "url": "http://www.informatics.jax.org/homology/45925129", "database": "MGI" }, { "id": "P04818", "url": "https://omabrowser.org/oma/group/P04818/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P45352-1", "protein_name": "Thymidylate synthase", "gene_name": "Tyms", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLVEGSELQSGAQQPRTEAPQHGELQYLRQVEHIMRCGFKKEDRTGTGTLSVFGMQARYSLRDEFPLLTTKRVFWKGVLEELLWFIKGSTNAKELSSKGVRIWDANGSRDFLDSLGFSARQEGDLGPVYGFQWRHFGADYKDMDSDYSGQGVDQLQKVIDTIKTNPDDRRIIMCAWNPKDLPLMALPPCHALCQFYVVNGELSCQLYQRSGDMGLGVPFNIASYALLTYMIAHITGLQPGDFVHTLGDAHIYLNHIEPLKIQLQREPRPFPKLRILRKVETIDDFKVEDFQIEGYNPHPTIKMEMAV", "length": 307 }, "evidence": [ { "id": "45925129", "url": "http://www.informatics.jax.org/homology/45925129", "database": "MGI" }, { "id": "P04818", "url": "https://omabrowser.org/oma/group/P04818/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "mRNA regulatory element binding translation repressor activity", "id": "GO:0000900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000900", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "sequence-specific mRNA binding", "id": "GO:1990825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990825", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "thymidylate synthase activity", "id": "GO:0004799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004799", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "folic acid binding", "id": "GO:0005542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005542", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 21, "go_terms": [ { "name": "DNA biosynthetic process", "id": "GO:0071897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071897", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "intestinal epithelial cell maturation", "id": "GO:0060574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060574", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "dTMP biosynthetic process", "id": "GO:0006231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006231", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "uracil metabolic process", "id": "GO:0019860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019860", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "response to organophosphorus", "id": "GO:0046683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046683", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "response to folic acid", "id": "GO:0051593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051593", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "tetrahydrofolate interconversion", "id": "GO:0035999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035999", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "dTTP biosynthetic process", "id": "GO:0006235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006235", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P04818", "url": "https://www.uniprot.org/uniprot/P04818" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 112, "end_pos": 114, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12104", "name": "", "equation": "(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + dUMP = 7,8-dihydrofolate + dTMP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P45352-1", "P04818-1", "P07607-1", "P06785-1", "O76511-1" ], "evidence": [ { "id": "12104", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12104" } ] }, { "id": "R-HSA-73605", "name": "dUMP + N5,N10-methylene tetrahydrofolate => TMP + dihydrofolate", "equation": "", "summary": "Cytosolic thymidylate synthase catalyzes the reaction of dUMP and N5,N10-methylene tetrahydrofolate to form TMP and dihydrofolate (Davisson et al. 1989). The enzyme is a homodimer (Phan et al. 2001).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-109382" ], "output_participant_list": [], "enzyme_list": [ "P04818-1" ], "evidence": [ { "id": "R-HSA-73605", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73605" } ] }, { "id": "R-HSA-8962050", "name": "TYMS gene expression", "equation": "", "summary": "Expression of the TYMS gene, encoding thymidylate synthase, is positively regulated by E2F1, but direct regulation has not been demonstrated (DeGregori et al. 1995).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-8962047" ], "output_participant_list": [ "R-HSA-73518" ], "enzyme_list": [ "P04818-1" ], "evidence": [ { "id": "R-HSA-8962050", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8962050" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-109382", "participant_name": "dUMP [cytosol]", "crossref": [ { "id": "C00365", "database": "COMPOUND", "url": "" }, { "id": "246422", "database": "ChEBI", "url": "" }, { "id": "000004228260", "database": "ZINC", "url": "" }, { "id": "C00365", "database": "COMPOUND", "url": "" }, { "id": "246422", "database": "ChEBI", "url": "" }, { "id": "000004228260", "database": "ZINC", "url": "" }, { "id": "000004228260", "database": "ZINC", "url": "" }, { "id": "C00365", "database": "COMPOUND", "url": "" }, { "id": "246422", "database": "ChEBI", "url": "" }, { "id": "C00365", "database": "COMPOUND", "url": "" }, { "id": "246422", "database": "ChEBI", "url": "" }, { "id": "000004228260", "database": "ZINC", "url": "" }, { "id": "000004228260", "database": "ZINC", "url": "" }, { "id": "C00365", "database": "COMPOUND", "url": "" }, { "id": "246422", "database": "ChEBI", "url": "" }, { "id": "246422", "database": "ChEBI", "url": "" }, { "id": "C00365", "database": "COMPOUND", "url": "" }, { "id": "000004228260", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-HSA-73518", "participant_name": "TYMS [cytosol]", "crossref": [ { "id": "3H9K", "database": "PDB", "url": "" }, { "id": "1HW3", "database": "PDB", "url": "" }, { "id": "5HS3", "database": "PDB", "url": "" }, { "id": "2RD8", "database": "PDB", "url": "" }, { "id": "2RDA", "database": "PDB", "url": "" }, { "id": "6QXG", "database": "PDB", "url": "" }, { "id": "ENSG00000176890", "database": "OpenTargets", "url": "" }, { "id": "6PF4", "database": "PDB", "url": "" }, { "id": "4H1I", "database": "PDB", "url": "" }, { "id": "P04818", "database": "PRO", "url": "" }, { "id": "3EHI", "database": "PDB", "url": "" }, { "id": "ENST00000323250", "database": "Ensembl", "url": "" }, { "id": "P04818", "database": "GeneCards", "url": "" }, { "id": "5X67", "database": "PDB", "url": "" }, { "id": "ENSP00000315644", "database": "Ensembl", "url": "" }, { "id": "3EBU", "database": "PDB", "url": "" }, { "id": "19453", "database": "Orphanet", "url": "" }, { "id": "3EDW", "database": "PDB", "url": "" }, { "id": "3OB7", "database": "PDB", "url": "" }, { "id": "5X5D", "database": "PDB", "url": "" }, { "id": "6OJV", "database": "PDB", "url": "" }, { "id": "5X66", "database": "PDB", "url": "" }, { "id": "1JUJ", "database": "PDB", "url": "" }, { "id": "5WRN", "database": "PDB", "url": "" }, { "id": "3N5E", "database": "PDB", "url": "" }, { "id": "NP_001062.1", "database": "RefSeq", "url": "" }, { "id": "3EAW", "database": "PDB", "url": "" }, { "id": "6PF6", "database": "PDB", "url": "" }, { "id": "5X5A", "database": "PDB", "url": "" }, { "id": "4FGT", "database": "PDB", "url": "" }, { "id": "1YPV", "database": "PDB", "url": "" }, { "id": "3ED7", "database": "PDB", "url": "" }, { "id": "ENSP00000314727", "database": "Ensembl", "url": "" }, { "id": "5X4X", "database": "PDB", "url": "" }, { "id": "1HZW", "database": "PDB", "url": "" }, { "id": "P04818", "database": "Pharos - Targets", "url": "" }, { "id": "2ONB", "database": "PDB", "url": "" }, { "id": "3N5G", "database": "PDB", "url": "" }, { "id": "3GH2", "database": "PDB", "url": "" }, { "id": "6PF3", "database": "PDB", "url": "" }, { "id": "HMDBP04363", "database": "HMDB Protein", "url": "" }, { "id": "2642", "database": "Guide to Pharmacology - Targets", "url": "" }, { "id": "P04818", "database": "UniProt", "url": "" }, { "id": "5X5Q", "database": "PDB", "url": "" }, { "id": "TYSY_HUMAN", "database": "ZINC - Investigational", "url": "" }, { "id": "3EF9", "database": "PDB", "url": "" }, { "id": "6OJU", "database": "PDB", "url": "" }, { "id": "6ZXO", "database": "PDB", "url": "" }, { "id": "4KPW", "database": "PDB", "url": "" }, { "id": "ENSG00000176890", "database": "Ensembl", "url": "" }, { "id": "3GG5", "database": "PDB", "url": "" }, { "id": "4G2O", "database": "PDB", "url": "" }, { "id": "ENST00000323224", "database": "Ensembl", "url": "" }, { "id": "TYSY_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "4GD7", "database": "PDB", "url": "" }, { "id": "TYSY_HUMAN", "database": "ZINC - World Drugs", "url": "" }, { "id": "TYSY_HUMAN", "database": "ZINC - FDA approved", "url": "" }, { "id": "5X4W", "database": "PDB", "url": "" }, { "id": "ENSP00000314902", "database": "Ensembl", "url": "" }, { "id": "TYSY_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "4GYH", "database": "PDB", "url": "" }, { "id": "4E28", "database": "PDB", "url": "" }, { "id": "TYSY_HUMAN", "database": "ZINC - Biogenic", "url": "" }, { "id": "1I00", "database": "PDB", "url": "" }, { "id": "TYSY_HUMAN", "database": "ZINC - Metabolites", "url": "" }, { "id": "1JU6", "database": "PDB", "url": "" }, { "id": "5X4Y", "database": "PDB", "url": "" }, { "id": "1HW4", "database": "PDB", "url": "" }, { "id": "4O1U", "database": "PDB", "url": "" }, { "id": "6QYQ", "database": "PDB", "url": "" }, { "id": "5X69", "database": "PDB", "url": "" }, { "id": "3HB8", "database": "PDB", "url": "" }, { "id": "6QXH", "database": "PDB", "url": "" }, { "id": "P04818", "database": "ZINC target", "url": "" }, { "id": "ENST00000323274", "database": "Ensembl", "url": "" }, { "id": "1HVY", "database": "PDB", "url": "" }, { "id": "3EJL", "database": "PDB", "url": "" }, { "id": "4G6W", "database": "PDB", "url": "" }, { "id": "3EGY", "database": "PDB", "url": "" }, { "id": "6PF5", "database": "PDB", "url": "" }, { "id": "6R2E", "database": "PDB", "url": "" }, { "id": "4O1X", "database": "PDB", "url": "" }, { "id": "4JEF", "database": "PDB", "url": "" }, { "id": "4UP1", "database": "PDB", "url": "" }, { "id": "ENSG00000176890-TYMS", "database": "HPA", "url": "" }, { "id": "3GH0", "database": "PDB", "url": "" } ] }, { "participant_id": "R-HSA-8962047", "participant_name": "TYMS gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000176890", "database": "ENSEMBL", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O76511", "gene_name": "Ts", "activity": [ { "ec_number": "2.1.1.45", "activity": "(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + dUMP = 7,8-dihydrofolate + dTMP.", "evidence": [ { "id": "O76511", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76511" } ] }, { "ec_number": "2.1.1.45", "activity": "", "evidence": [ { "id": "O76511", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76511" } ] } ] }, { "uniprot_ac": "P04818", "gene_name": "TYMS", "activity": [ { "ec_number": "2.1.1.45", "activity": "(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + dUMP = 7,8-dihydrofolate + dTMP.", "evidence": [ { "id": "P04818", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04818" } ] }, { "ec_number": "2.1.1.45", "activity": "", "evidence": [ { "id": "P04818", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04818" } ] } ] }, { "uniprot_ac": "P06785", "gene_name": "CDC21", "activity": [ { "ec_number": "2.1.1.45", "activity": "(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + dUMP = 7,8-dihydrofolate + dTMP.", "evidence": [ { "id": "P06785", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06785" } ] }, { "ec_number": "2.1.1.45", "activity": "", "evidence": [ { "id": "P06785", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06785" } ] } ] }, { "uniprot_ac": "P07607", "gene_name": "Tyms", "activity": [ { "ec_number": "2.1.1.45", "activity": "(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + dUMP = 7,8-dihydrofolate + dTMP.", "evidence": [ { "id": "P07607", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07607" } ] }, { "ec_number": "2.1.1.45", "activity": "", "evidence": [ { "id": "P07607", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07607" } ] } ] }, { "uniprot_ac": "P45352", "gene_name": "Tyms", "activity": [ { "ec_number": "2.1.1.45", "activity": "(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + dUMP = 7,8-dihydrofolate + dTMP.", "evidence": [ { "id": "P45352", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45352" } ] }, { "ec_number": "2.1.1.45", "activity": "", "evidence": [ { "id": "P45352", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45352" } ] } ] } ], "biomarkers": [ { "assessed_biomarker_entity": "Thymidylate synthase (TYMS)", "biomarker_id": "A0201", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "31861032", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31861032" } ], "instances": [ { "best_biomarker_type": "prognostic", "status": "increased TYMS level", "disease": { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, "tissue": { "name": "pancreas", "namespace": "UBERON", "id": "0001264", "url": "http://purl.obolibrary.org/obo/UBERON_0001264" }, "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "31861032", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31861032" } ] } ] } ], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 251, 306 ], "snv_sites": [ 227, 228, 262 ], "glycation_sites": [], "phosphorylation_sites": [ 6, 114, 153 ], "sequon_annotation_sites": [ { "start_pos": 112, "end_pos": 114 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "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": 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": "publication", "table_stats": [ { "field": "total", "count": 87 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }