{ "uniprot_canonical_ac": "P04637-1", "uniprot_ac": "P04637", "uniprot_id": "P53_HUMAN", "mass": { "chemical_mass": 43653.0, "monoisotopic_mass": 43653.0 }, "refseq": { "ac": "NP_000537", "name": "cellular tumor antigen p53 isoform a", "summary": "This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, "gene_names": [ { "name": "TP53", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04637", "id": "P04637" }, { "name": "BCC7; BMFS5; LFS1; P53; TRP53", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537", "id": "NP_000537" }, { "name": "P53", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04637", "id": "P04637" }, { "name": "TP53", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537", "id": "NP_000537" } ], "protein_names": [ { "name": "Cellular tumor antigen p53", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04637" }, { "name": "Antigen NY-CO-13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04637" }, { "name": "Phosphoprotein p53", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04637" }, { "name": "Tumor suppressor p53", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04637" }, { "name": "cellular tumor antigen p53 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537", "id": "NP_000537" }, { "name": "tumor protein 53; mutant tumor protein 53; cellular tumor antigen p53; phosphoprotein p53; transformation-related protein 53; antigen NY-CO-13; tumor supressor p53", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537", "id": "NP_000537" } ], "function": [ { "annotation": "Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression.", "evidence": [ { "database": "UniProtKB", "id": "J3KP33", "url": "https://www.uniprot.org/uniprot/J3KP33#function" }, { "database": "UniProtKB", "id": "RU003304", "url": "https://www.uniprot.org/uniprot/RU003304#function" }, { "database": "UniProtKB", "id": "A0A087WT22", "url": "https://www.uniprot.org/uniprot/A0A087WT22#function" }, { "database": "UniProtKB", "id": "A0A087X1Q1", "url": "https://www.uniprot.org/uniprot/A0A087X1Q1#function" }, { "database": "UniProtKB", "id": "E7ESS1", "url": "https://www.uniprot.org/uniprot/E7ESS1#function" }, { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637#function" }, { "database": "PubMed", "id": "22726440", "url": "https://glygen.org/publication/PubMed/22726440" }, { "database": "PubMed", "id": "20673990", "url": "https://glygen.org/publication/PubMed/20673990" }, { "database": "PubMed", "id": "17349958", "url": "https://glygen.org/publication/PubMed/17349958" }, { "database": "PubMed", "id": "24051492", "url": "https://glygen.org/publication/PubMed/24051492" }, { "database": "PubMed", "id": "19556538", "url": "https://glygen.org/publication/PubMed/19556538" }, { "database": "PubMed", "id": "11025664", "url": "https://glygen.org/publication/PubMed/11025664" }, { "database": "PubMed", "id": "9840937", "url": "https://glygen.org/publication/PubMed/9840937" }, { "database": "PubMed", "id": "15186775", "url": "https://glygen.org/publication/PubMed/15186775" }, { "database": "PubMed", "id": "17317671", "url": "https://glygen.org/publication/PubMed/17317671" }, { "database": "PubMed", "id": "20959462", "url": "https://glygen.org/publication/PubMed/20959462" }, { "database": "PubMed", "id": "15340061", "url": "https://glygen.org/publication/PubMed/15340061" }, { "database": "PubMed", "id": "12524540", "url": "https://glygen.org/publication/PubMed/12524540" }, { "database": "PubMed", "id": "12810724", "url": "https://glygen.org/publication/PubMed/12810724" }, { "database": "PubMed", "id": "24652652", "url": "https://glygen.org/publication/PubMed/24652652" }, { "database": "UniProtKB", "id": "E9PFT5", "url": "https://www.uniprot.org/uniprot/E9PFT5#function" }, { "database": "UniProtKB", "id": "A0A0U1RQC9", "url": "https://www.uniprot.org/uniprot/A0A0U1RQC9#function" }, { "database": "UniProtKB", "id": "A0A087WXZ1", "url": "https://www.uniprot.org/uniprot/A0A087WXZ1#function" }, { "database": "UniProtKB", "id": "E7EQX7", "url": "https://www.uniprot.org/uniprot/E7EQX7#function" } ] }, { "annotation": "Common genetic variants in the TP53 pathway and their impact on cancer. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "31152665", "url": "https://glygen.org/publication/PubMed/31152665" } ] }, { "annotation": "Harbouring alternative translation initiation sites, the p53 mRNA gives rise to different levels of the p53 isoforms which help to orchestrate the cell biological outcome of p53 activation", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "16983332", "url": "https://glygen.org/publication/PubMed/16983332" } ] }, { "annotation": "Mechanism of p53 regulation originating through alternative splicing of the human p53 gene resulting in the expression of a novel p53 mRNA", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "15340061", "url": "https://glygen.org/publication/PubMed/15340061" } ] }, { "annotation": "P53 isoforms can regulate p53 transcriptional activity.", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "16131611", "url": "https://glygen.org/publication/PubMed/16131611" } ] }, { "annotation": "Recommendations and guidelines for reporting and annotating TP53 variants are also provided, to help researchers generate standardized data that are easy to understand, analyze, and exchange across various cancer variant databases Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "24753184", "url": "https://glygen.org/publication/PubMed/24753184" } ] }, { "annotation": "TP53 missense mutant alleles that occur in human cancers are discussed in the context of high resolution models of these p53 mutant protein structures to determine the structural features of mutations (review). Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "29099487", "url": "https://glygen.org/publication/PubMed/29099487" } ] }, { "annotation": "The p53 protein encoded by the 770delT allele is as abundant as the wild-type protein, as removal of the C-terminal p53 domain leads to a stabilized mutant protein, whose abundance is markedly increased when NMD is inhibited.", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "17694537", "url": "https://glygen.org/publication/PubMed/17694537" } ] }, { "annotation": "Therapeutic Editing of the TP53 Gene: Is CRISPR/Cas9 an Option? Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "32630614", "url": "https://glygen.org/publication/PubMed/32630614" } ] }, { "annotation": "This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] } ], "disease": [ { "disease_id": "DOID:0111503", "recommended_name": { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111503", "name": "Li-Fraumeni syndrome 1", "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1." }, "synonyms": [ { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111503", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ], "evidence": [ { "id": "151623", "database": "MIM", "url": "https://www.omim.org/entry/151623" } ] }, { "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" } ], "evidence": [ { "id": "211980", "database": "MIM", "url": "https://www.omim.org/entry/211980" } ] }, { "disease_id": "DOID:2626", "recommended_name": { "id": "DOID:2626", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2626", "name": "choroid plexus papilloma", "description": "" }, "synonyms": [ { "id": "DOID:2626", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2626", "name": "childhood choroid plexus papilloma", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus papilloma", "description": "Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure." }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus papilloma", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus papilloma, no ICD-O subtype", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "papilloma of the choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "childhood choroid plexus papilloma", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "childhood papilloma of choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus papilloma NOS (morphologic abnormality)", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "paediatric papilloma of choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "pediatric papilloma of choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "CPP", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus carcinoma", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "papilloma of choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "papilloma, choroid plexus, benign", "description": "" }, { "id": "MIM:260500", "resource": "MIM", "url": "https://www.omim.org/entry/260500", "name": "Papilloma of choroid plexus", "description": "Papilloma of choroid plexus" } ], "evidence": [ { "id": "260500", "database": "MIM", "url": "https://www.omim.org/entry/260500" } ] }, { "disease_id": "DOID:3012", "recommended_name": { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni syndrome", "description": "A syndrome 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"MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni 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"https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" 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"MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma, head and neck, somatic", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinomas of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": 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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": "P04637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04637" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04637" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P04637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04637" } ], "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", 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "P04637-1", "url": "https://www.uniprot.org/uniprot/P04637-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04637-2", "url": "https://www.uniprot.org/uniprot/P04637-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04637-3", "url": "https://www.uniprot.org/uniprot/P04637-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04637-4", "url": "https://www.uniprot.org/uniprot/P04637-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04637-5", "url": "https://www.uniprot.org/uniprot/P04637-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04637-6", "url": "https://www.uniprot.org/uniprot/P04637-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04637-7", "url": "https://www.uniprot.org/uniprot/P04637-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04637-8", "url": "https://www.uniprot.org/uniprot/P04637-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04637-9", "url": "https://www.uniprot.org/uniprot/P04637-9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R334", "url": "https://www.uniprot.org/uniprot/S4R334", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R334-1", "url": "https://www.uniprot.org/uniprot/S4R334-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 393, "header": "sp|P04637-1|P53_HUMAN Isoform 1 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "isoforms": [ { "isoform_ac": "A0A087WT22-1", "url": "", "sequence": { "sequence": "MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS", "length": 187, "header": "tr|A0A087WT22-1|P53_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675134, "end_pos": 7673222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610623.4", "url": "https://www.ensembl.org/id/ENST00000610623.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000477531.1", "url": "https://www.ensembl.org/id/ENSP00000477531.1" } ] } }, { "isoform_ac": "A0A087WXZ1-1", "url": "", "sequence": { "sequence": "MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC", "length": 182, "header": "tr|A0A087WXZ1-1|A0A087WXZ1_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675134, "end_pos": 7673310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000618944.4", "url": "https://www.ensembl.org/id/ENST00000618944.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481401.1", "url": "https://www.ensembl.org/id/ENSP00000481401.1" } ] } }, { "isoform_ac": "A0A087X1Q1-1", "url": "", "sequence": { "sequence": "MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 234, "header": "tr|A0A087X1Q1-1|A0A087X1Q1_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675134, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000619186.4", "url": "https://www.ensembl.org/id/ENST00000619186.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000484375.1", "url": "https://www.ensembl.org/id/ENSP00000484375.1" } ] } }, { "isoform_ac": "A0A0U1RQC9-1", "url": "", "sequence": { "sequence": "MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSRECQTLSPGDPDPPLSETFNLNICPYPAGKLELLKLSPCPCLCRQVTLMSFLFFFLIFFYFRLYWGIIDPPKLHTFKVCSVMI", "length": 410, "header": "tr|A0A0U1RQC9-1|A0A0U1RQC9_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676251, "end_pos": 7667179, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635293.1", "url": "https://www.ensembl.org/id/ENST00000635293.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488924.1", "url": "https://www.ensembl.org/id/ENSP00000488924.1" } ] } }, { "isoform_ac": "E7EMR6-1", "url": "", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQ", "length": 165, "header": "tr|E7EMR6-1|P53_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508793.5", "url": "https://www.ensembl.org/id/ENST00000508793.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424104.1", "url": "https://www.ensembl.org/id/ENSP00000424104.1" } ] } }, { "isoform_ac": "E7EQX7-1", "url": "", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSRPRQVDHLRSGVQDSLANIAKSHLY", "length": 285, "header": "tr|E7EQX7-1|E7EQX7_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7661942, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413465.6", "url": "https://www.ensembl.org/id/ENST00000413465.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000410739.2", "url": "https://www.ensembl.org/id/ENSP00000410739.2" } ] } }, { "isoform_ac": "E7ESS1-1", "url": "", "sequence": { "sequence": "MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQ", "length": 199, "header": "tr|E7ESS1-1|P53_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675215, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509690.5", "url": "https://www.ensembl.org/id/ENST00000509690.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425104.1", "url": "https://www.ensembl.org/id/ENSP00000425104.1" } ] } }, { "isoform_ac": "E9PCY9-1", "url": "", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYS", "length": 127, "header": "tr|E9PCY9-1|E9PCY9_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=8 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503591.1", "url": "https://www.ensembl.org/id/ENST00000503591.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000426252.1", "url": "https://www.ensembl.org/id/ENSP00000426252.1" } ] } }, { "isoform_ac": "E9PFT5-1", "url": "", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 300, "header": "tr|E9PFT5-1|E9PFT5_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=2 CANONICAL=P04637-1" }, "locus": {} }, { "isoform_ac": "I3L0W9-1", "url": "", "sequence": { "sequence": "XSPQPKKKPLDGEYFTLQPPEVQKGSVYLPP", "length": 31, "header": "tr|I3L0W9-1|I3L0W9_HUMAN Computationally mapped isoform of Tumor protein p53 OS=Homo sapiens OX=9606 GN=TP53 PE=4 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7673587, "end_pos": 7669651, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000576024.1", "url": "https://www.ensembl.org/id/ENST00000576024.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000458393.1", "url": "https://www.ensembl.org/id/ENSP00000458393.1" } ] } }, { "isoform_ac": "J3KP33-1", "url": "", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQKTFPARHGGSHL", "length": 343, "header": "tr|J3KP33-1|P53_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7666209, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359597.8", "url": "https://www.ensembl.org/id/ENST00000359597.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000352610.4", "url": "https://www.ensembl.org/id/ENSP00000352610.4" } ] } }, { "isoform_ac": "P04637-1", "url": "", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 393, "header": "sp|P04637-1|P53_HUMAN Isoform 1 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445888.6", "url": "https://www.ensembl.org/id/ENST00000445888.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000391478.2", "url": "https://www.ensembl.org/id/ENSP00000391478.2" } ] } }, { "isoform_ac": "P04637-2", "url": "", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC", "length": 341, "header": "sp|P04637-2|P53_HUMAN Isoform 2 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7673310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000420246.6", "url": "https://www.ensembl.org/id/ENST00000420246.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000391127.2", "url": "https://www.ensembl.org/id/ENSP00000391127.2" } ] } }, { "isoform_ac": "P04637-3", "url": "", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS", "length": 346, "header": "sp|P04637-3|P53_HUMAN Isoform 3 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7673222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455263.6", "url": "https://www.ensembl.org/id/ENST00000455263.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000398846.2", "url": "https://www.ensembl.org/id/ENSP00000398846.2" } ] } }, { "isoform_ac": "P04637-4", "url": "", "sequence": { "sequence": "MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 354, "header": "sp|P04637-4|P53_HUMAN Isoform 4 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676251, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620739.4", "url": "https://www.ensembl.org/id/ENST00000620739.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481638.1", "url": "https://www.ensembl.org/id/ENSP00000481638.1" } ] } }, { "isoform_ac": "P04637-5", "url": "", "sequence": { "sequence": "MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC", "length": 302, "header": "sp|P04637-5|P53_HUMAN Isoform 5 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676251, "end_pos": 7673310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622645.4", "url": "https://www.ensembl.org/id/ENST00000622645.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482222.1", "url": "https://www.ensembl.org/id/ENSP00000482222.1" } ] } }, { "isoform_ac": "P04637-6", "url": "", "sequence": { "sequence": "MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS", "length": 307, "header": "sp|P04637-6|P53_HUMAN Isoform 6 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676251, "end_pos": 7673222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610538.4", "url": "https://www.ensembl.org/id/ENST00000610538.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000480868.1", "url": "https://www.ensembl.org/id/ENSP00000480868.1" } ] } }, { "isoform_ac": "P04637-7", "url": "", "sequence": { "sequence": "MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 261, "header": "sp|P04637-7|P53_HUMAN Isoform 7 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675215, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000504937.5", "url": "https://www.ensembl.org/id/ENST00000504937.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000481179.1", "url": "https://www.ensembl.org/id/ENSP00000481179.1" } ] } }, { "isoform_ac": "P04637-8", "url": "", "sequence": { "sequence": "MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC", "length": 209, "header": "sp|P04637-8|P53_HUMAN Isoform 8 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675215, "end_pos": 7673310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000510385.5", "url": "https://www.ensembl.org/id/ENST00000510385.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000478499.1", "url": "https://www.ensembl.org/id/ENSP00000478499.1" } ] } }, { "isoform_ac": "P04637-9", "url": "", "sequence": { "sequence": "MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS", "length": 214, "header": "sp|P04637-9|P53_HUMAN Isoform 9 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675215, "end_pos": 7673222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000504290.5", "url": "https://www.ensembl.org/id/ENST00000504290.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000484409.1", "url": "https://www.ensembl.org/id/ENSP00000484409.1" } ] } }, { "isoform_ac": "S4R334-1", "url": "", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 386, "header": "tr|S4R334-1|S4R334_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=2 CANONICAL=P04637-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "automatic_literature_mining", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 121, "start_aa": "Ser", "end_pos": 121, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser121", "evidence": [ { "id": "32417172", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/32417172" }, { "id": "32417172", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32417172" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 149, "start_aa": "Ser", "end_pos": 149, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser149", "evidence": [ { "id": "P04637", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04637" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "16964247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16964247" }, { "id": "20668475", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20668475" }, { "id": "28878262", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28878262" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "22365600", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22365600" }, { "id": "25619971", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25619971" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "27402830", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27402830" }, { "id": "30462203", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30462203" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "30086259", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30086259" }, { "id": "P04637", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04637" }, { "id": "34417460", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34417460" } ] } ], "phosphorylation": [ { "start_pos": 106, "end_pos": 106, "kinase_uniprot_canonical_ac": "O14965-1", "kinase_gene_name": "AURKA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "23201157", "url": "https://glygen.org/publication/PubMed/23201157" } ], "site_lbl": "Ser106" }, { "start_pos": 106, "end_pos": 106, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "23201157", "url": "https://glygen.org/publication/PubMed/23201157" }, { "database": "PubMed", "id": "25075982", "url": "https://glygen.org/publication/PubMed/25075982" } ], "site_lbl": "Ser106" }, { "start_pos": 149, "end_pos": 149, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "28539160", "url": "https://glygen.org/publication/PubMed/28539160" } ], "site_lbl": "Ser149" }, { "start_pos": 150, "end_pos": 150, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "28539160", "url": "https://glygen.org/publication/PubMed/28539160" } ], "site_lbl": "Thr150" }, { "start_pos": 155, "end_pos": 155, "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "12628923", "url": "https://glygen.org/publication/PubMed/12628923" } ], "site_lbl": "Thr155" }, { "start_pos": 155, "end_pos": 155, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "11285227", "url": "https://glygen.org/publication/PubMed/11285227" }, { "database": "PubMed", "id": "16964247", "url": "https://glygen.org/publication/PubMed/16964247" }, { "database": "PubMed", "id": "23340843", "url": "https://glygen.org/publication/PubMed/23340843" }, { "database": "PubMed", "id": "28539160", "url": "https://glygen.org/publication/PubMed/28539160" }, { "database": "PubMed", "id": "33745968", "url": "https://glygen.org/publication/PubMed/33745968" } ], "site_lbl": "Thr155" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "O14757-1", "kinase_gene_name": "CHEK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "10673501", "url": "https://glygen.org/publication/PubMed/10673501" }, { "database": "PubMed", "id": "11551930", "url": "https://glygen.org/publication/PubMed/11551930" }, { "database": "PubMed", "id": "11709713", "url": "https://glygen.org/publication/PubMed/11709713" }, { "database": "PubMed", "id": "9765199", "url": "https://glygen.org/publication/PubMed/9765199" }, { "database": "PubMed", "id": "15659650", "url": "https://glygen.org/publication/PubMed/15659650" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "O60285-1", "kinase_gene_name": "NUAK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "21317932", "url": "https://glygen.org/publication/PubMed/21317932" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "O96017-1", "kinase_gene_name": "CHEK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "10656682", "url": "https://glygen.org/publication/PubMed/10656682" }, { "database": "PubMed", "id": "10673501", "url": "https://glygen.org/publication/PubMed/10673501" }, { "database": "PubMed", "id": "10710310", "url": "https://glygen.org/publication/PubMed/10710310" }, { "database": "PubMed", "id": "17339337", "url": "https://glygen.org/publication/PubMed/17339337" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "10781582", "url": "https://glygen.org/publication/PubMed/10781582" }, { "database": "PubMed", "id": "12955074", "url": "https://glygen.org/publication/PubMed/12955074" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "12091386", "url": "https://glygen.org/publication/PubMed/12091386" }, { "database": "PubMed", "id": "14965474", "url": "https://glygen.org/publication/PubMed/14965474" }, { "database": "PubMed", "id": "10781582", "url": "https://glygen.org/publication/PubMed/10781582" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "P51812-1", "kinase_gene_name": "RPS6KA3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "15867353", "url": "https://glygen.org/publication/PubMed/15867353" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "P57059-1", "kinase_gene_name": "SIK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "19622832", "url": "https://glygen.org/publication/PubMed/19622832" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "P78527-1", "kinase_gene_name": "PRKDC", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "10673501", "url": "https://glygen.org/publication/PubMed/10673501" }, { "database": "PubMed", "id": "11551930", "url": "https://glygen.org/publication/PubMed/11551930" }, { "database": "PubMed", "id": "11709713", "url": "https://glygen.org/publication/PubMed/11709713" }, { "database": "PubMed", "id": "9765199", "url": "https://glygen.org/publication/PubMed/9765199" }, { "database": "PubMed", "id": "9363941", "url": "https://glygen.org/publication/PubMed/9363941" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "Q00535-1", "kinase_gene_name": "CDK5", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "17591690", "url": "https://glygen.org/publication/PubMed/17591690" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "16314418", "url": "https://glygen.org/publication/PubMed/16314418" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "Q13131-1", "kinase_gene_name": "PRKAA1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "15866171", "url": "https://glygen.org/publication/PubMed/15866171" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "Q13315-1", "kinase_gene_name": "ATM", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "10673501", "url": "https://glygen.org/publication/PubMed/10673501" }, { "database": "PubMed", "id": "10864201", "url": "https://glygen.org/publication/PubMed/10864201" }, { "database": "PubMed", "id": "11551930", "url": "https://glygen.org/publication/PubMed/11551930" }, { "database": "PubMed", "id": "11709713", "url": "https://glygen.org/publication/PubMed/11709713" }, { "database": "PubMed", "id": "11875057", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0019661", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "pmid": "" }, { "name": "negative regulation of glucose catabolic process to lactate via pyruvate", "id": "GO:1904024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904024", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "pmid": "" }, { "name": "signal transduction by p53 class mediator", "id": "GO:0072331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072331", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "pmid": "" }, { "name": "cellular response to actinomycin D", "id": "GO:0072717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072717", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "pmid": "" }, { "name": "positive regulation of programmed necrotic cell death", "id": "GO:0062100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062100", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "pmid": "" }, { "name": "negative regulation of pentose-phosphate shunt", "id": "GO:1905856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905856", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "pmid": "" }, { "name": "negative regulation of G1 to G0 transition", "id": "GO:1903451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903451", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 239, "end_pos": 241, "annotation": "n_glycosylation_sequon" }, { "start_pos": 310, "end_pos": 312, "annotation": "n_glycosylation_sequon" }, { "start_pos": 311, "end_pos": 313, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Acetylation of Lys-382 by CREBBP enhances transcriptional activity (PubMed:10656795, PubMed:15448695, PubMed:20228809, PubMed:23431171). Acetylation of Lys-382 by EP300 (PubMed:10656795, PubMed:15448695, PubMed:20228809, PubMed:23431171). Deacetylation of Lys-382 by SIRT1 impairs its ability to induce proapoptotic program and modulate cell senescence (PubMed:10656795, PubMed:15448695, PubMed:20228809, PubMed:23431171). Deacetylation by SIRT2 impairs its ability to induce transcription activation in a AKT-dependent manner (PubMed:10656795, PubMed:15448695, PubMed:20228809, PubMed:23431171, PubMed:29681526). Acetylation at Lys-381 increases stability (PubMed:29474172). Deacetylation at Lys-381 by SIRT6 decreases its stability, thereby regulating cell senescence (PubMed:29474172).", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "PubMed", "id": "23431171", "url": "https://glygen.org/publication/PubMed/23431171" }, { "database": "PubMed", "id": "20228809", "url": "https://glygen.org/publication/PubMed/20228809" }, { "database": "PubMed", "id": "10656795", "url": "https://glygen.org/publication/PubMed/10656795" }, { "database": "PubMed", "id": "15448695", "url": "https://glygen.org/publication/PubMed/15448695" }, { "database": "PubMed", "id": "29474172", "url": "https://glygen.org/publication/PubMed/29474172" }, { "database": "PubMed", "id": "29681526", "url": "https://glygen.org/publication/PubMed/29681526" } ] }, { "annotation": "May be O-glycosylated in the C-terminal basic region. Studied in EB-1 cell line.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "PubMed", "id": "8632915", "url": "https://glygen.org/publication/PubMed/8632915" } ] }, { "annotation": "Monomethylated at Lys-372 by SETD7, leading to stabilization and increased transcriptional activation (PubMed:15525938, PubMed:16415881). Monomethylated at Lys-370 by SMYD2, leading to decreased DNA-binding activity and subsequent transcriptional regulation activity (PubMed:17108971). Lys-372 monomethylation prevents interaction with SMYD2 and subsequent monomethylation at Lys-370 (PubMed:17108971). Dimethylated at Lys-373 by EHMT1 and EHMT2 (PubMed:20118233). Monomethylated at Lys-382 by KMT5A, promoting interaction with L3MBTL1 and leading to repress transcriptional activity (PubMed:17707234). Dimethylation at Lys-370 and Lys-382 diminishes p53 ubiquitination, through stabilizing association with the methyl reader PHF20 (PubMed:22864287). Demethylation of dimethylated Lys-370 by KDM1A prevents interaction with TP53BP1 and represses TP53-mediated transcriptional activation (PubMed:17805299). Monomethylated at Arg-333 and dimethylated at Arg-335 and Arg-337 by PRMT5; methylation is increased after DNA damage and might possibly affect TP53 target gene specificity (PubMed:19011621).", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "PubMed", "id": "17707234", "url": "https://glygen.org/publication/PubMed/17707234" }, { "database": "PubMed", "id": "15525938", "url": "https://glygen.org/publication/PubMed/15525938" }, { "database": "PubMed", "id": "22864287", "url": "https://glygen.org/publication/PubMed/22864287" }, { "database": "PubMed", "id": "17108971", "url": "https://glygen.org/publication/PubMed/17108971" }, { "database": "PubMed", "id": "16415881", "url": "https://glygen.org/publication/PubMed/16415881" }, { "database": "PubMed", "id": "17805299", "url": "https://glygen.org/publication/PubMed/17805299" }, { "database": "PubMed", "id": "19011621", "url": "https://glygen.org/publication/PubMed/19011621" }, { "database": "PubMed", "id": "20118233", "url": "https://glygen.org/publication/PubMed/20118233" } ] }, { "annotation": "Phosphorylation on Ser residues mediates transcriptional activation. Phosphorylated by HIPK1 (By similarity). Phosphorylation at Ser-9 by HIPK4 increases repression activity on BIRC5 promoter. Phosphorylated on Thr-18 by VRK1. Phosphorylated on Ser-20 by CHEK2 in response to DNA damage, which prevents ubiquitination by MDM2. Phosphorylated on Ser-20 by PLK3 in response to reactive oxygen species (ROS), promoting p53/TP53-mediated apoptosis. Phosphorylated on Thr-55 by TAF1, which promotes MDM2-mediated degradation. Phosphorylated on Ser-33 by CDK7 in a CAK complex in response to DNA damage. Phosphorylated on Ser-46 by HIPK2 upon UV irradiation. Phosphorylation on Ser-46 is required for acetylation by CREBBP. Phosphorylated on Ser-392 following UV but not gamma irradiation. Phosphorylated by NUAK1 at Ser-15 and Ser-392; was initially thought to be mediated by STK11/LKB1 but it was later shown that it is indirect and that STK11/LKB1-dependent phosphorylation is probably mediated by downstream NUAK1 (PubMed:21317932). It is unclear whether AMP directly mediates phosphorylation at Ser-15. Phosphorylated on Thr-18 by isoform 1 and isoform 2 of VRK2. Phosphorylation on Thr-18 by isoform 2 of VRK2 results in a reduction in ubiquitination by MDM2 and an increase in acetylation by EP300. Stabilized by CDK5-mediated phosphorylation in response to genotoxic and oxidative stresses at Ser-15, Ser-33 and Ser-46, leading to accumulation of p53/TP53, particularly in the nucleus, thus inducing the transactivation of p53/TP53 target genes. Phosphorylated by DYRK2 at Ser-46 in response to genotoxic stress. Phosphorylated at Ser-315 and Ser-392 by CDK2 in response to DNA-damage. Phosphorylation at Ser-15 is required for interaction with DDX3X and gamma-tubulin (PubMed:28842590).", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "PubMed", "id": "11780126", "url": "https://glygen.org/publication/PubMed/11780126" }, { "database": "PubMed", "id": "17254968", "url": "https://glygen.org/publication/PubMed/17254968" }, { "database": "PubMed", "id": "2141171", "url": "https://glygen.org/publication/PubMed/2141171" }, { "database": "PubMed", "id": "17349958", "url": "https://glygen.org/publication/PubMed/17349958" }, { "database": "PubMed", "id": "11554766", "url": "https://glygen.org/publication/PubMed/11554766" }, { "database": "PubMed", "id": "20041275", "url": "https://glygen.org/publication/PubMed/20041275" }, { "database": "PubMed", "id": "10884347", "url": "https://glygen.org/publication/PubMed/10884347" }, { "database": "PubMed", "id": "17591690", "url": "https://glygen.org/publication/PubMed/17591690" }, { "database": "PubMed", "id": "15866171", "url": "https://glygen.org/publication/PubMed/15866171" }, { "database": "PubMed", "id": "10951572", "url": "https://glygen.org/publication/PubMed/10951572" }, { "database": "PubMed", "id": "21317932", "url": "https://glygen.org/publication/PubMed/21317932" }, { "database": "PubMed", "id": "11740489", "url": "https://glygen.org/publication/PubMed/11740489" }, { "database": "PubMed", "id": "16704422", "url": "https://glygen.org/publication/PubMed/16704422" }, { "database": "PubMed", "id": "22214662", "url": "https://glygen.org/publication/PubMed/22214662" }, { "database": "PubMed", "id": "14702041", "url": "https://glygen.org/publication/PubMed/14702041" }, { "database": "PubMed", "id": "10570149", "url": "https://glygen.org/publication/PubMed/10570149" }, { "database": "PubMed", "id": "18022393", "url": "https://glygen.org/publication/PubMed/18022393" }, { "database": "PubMed", "id": "1705009", "url": "https://glygen.org/publication/PubMed/1705009" }, { "database": "PubMed", "id": "11546806", "url": "https://glygen.org/publication/PubMed/11546806" }, { "database": "PubMed", "id": "10606744", "url": "https://glygen.org/publication/PubMed/10606744" }, { "database": "PubMed", "id": "11239457", "url": "https://glygen.org/publication/PubMed/11239457" }, { "database": "PubMed", "id": "15053879", "url": "https://glygen.org/publication/PubMed/15053879" }, { "database": "PubMed", "id": "9372954", "url": "https://glygen.org/publication/PubMed/9372954" }, { "database": "PubMed", "id": "17967874", "url": "https://glygen.org/publication/PubMed/17967874" }, { "database": "PubMed", "id": "20959462", "url": "https://glygen.org/publication/PubMed/20959462" }, { "database": "PubMed", "id": "20124405", "url": "https://glygen.org/publication/PubMed/20124405" }, { "database": "PubMed", "id": "16377624", "url": "https://glygen.org/publication/PubMed/16377624" }, { "database": "PubMed", "id": "11447225", "url": "https://glygen.org/publication/PubMed/11447225" }, { "database": "PubMed", "id": "17108107", "url": "https://glygen.org/publication/PubMed/17108107" }, { "database": "PubMed", "id": "11551930", "url": "https://glygen.org/publication/PubMed/11551930" }, { "database": "PubMed", "id": "28842590", "url": "https://glygen.org/publication/PubMed/28842590" }, { "database": "PubMed", "id": "12810724", "url": "https://glygen.org/publication/PubMed/12810724" } ] }, { "annotation": "Sumoylated with SUMO1. Sumoylated at Lys-386 by UBC9.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "PubMed", "id": "22214662", "url": "https://glygen.org/publication/PubMed/22214662" }, { "database": "PubMed", "id": "11124955", "url": "https://glygen.org/publication/PubMed/11124955" } ] }, { "annotation": "Ubiquitinated by MDM2 and SYVN1, which leads to proteasomal degradation (PubMed:10722742, PubMed:12810724, PubMed:15340061, PubMed:17170702, PubMed:19880522, PubMed:29681526). Ubiquitinated by RFWD3, which works in cooperation with MDM2 and may catalyze the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome (PubMed:10722742, PubMed:12810724, PubMed:20173098). Ubiquitinated by MKRN1 at Lys-291 and Lys-292, which leads to proteasomal degradation (PubMed:19536131). Deubiquitinated by USP10, leading to its stabilization (PubMed:20096447). Ubiquitinated by TRIM24, RFFL, RNF34 and RNF125, which leads to proteasomal degradation (PubMed:19556538). Ubiquitination by TOPORS induces degradation (PubMed:19473992). Deubiquitination by USP7, leading to stabilization (PubMed:15053880). Isoform 4 is monoubiquitinated in an MDM2-independent manner (PubMed:15340061). Ubiquitinated by COP1, which leads to proteasomal degradation (PubMed:19837670). Ubiquitination and subsequent proteasomal degradation is negatively regulated by CCAR2 (PubMed:25732823). Polyubiquitinated by C10orf90/FATS, polyubiquitination is 'Lys-48'-linkage independent and non-proteolytic, leading to TP53 stabilization (By similarity). Polyubiquitinated by MUL1 at Lys-24 which leads to proteasomal degradation (PubMed:21597459).", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637" }, { "database": "PubMed", "id": "20096447", "url": "https://glygen.org/publication/PubMed/20096447" }, { "database": "PubMed", "id": "17170702", "url": "https://glygen.org/publication/PubMed/17170702" }, { "database": "PubMed", "id": "18206965", "url": "https://glygen.org/publication/PubMed/18206965" }, { "database": "PubMed", "id": "25732823", "url": "https://glygen.org/publication/PubMed/25732823" }, { "database": "PubMed", "id": "19556538", "url": "https://glygen.org/publication/PubMed/19556538" }, { "database": "PubMed", "id": "20173098", "url": "https://glygen.org/publication/PubMed/20173098" }, { "database": "PubMed", "id": "25591766", "url": "https://glygen.org/publication/PubMed/25591766" }, { "database": "PubMed", "id": "19536131", "url": "https://glygen.org/publication/PubMed/19536131" }, { "database": "PubMed", "id": "10722742", "url": "https://glygen.org/publication/PubMed/10722742" }, { "database": "PubMed", "id": "21597459", "url": "https://glygen.org/publication/PubMed/21597459" }, { "database": "PubMed", "id": "19473992", "url": "https://glygen.org/publication/PubMed/19473992" }, { "database": "PubMed", "id": "19837670", "url": "https://glygen.org/publication/PubMed/19837670" }, { "database": "PubMed", "id": "19880522", "url": "https://glygen.org/publication/PubMed/19880522" }, { "database": "PubMed", "id": "15340061", "url": "https://glygen.org/publication/PubMed/15340061" }, { "database": "PubMed", "id": "15053880", "url": "https://glygen.org/publication/PubMed/15053880" }, { "database": "PubMed", "id": "12810724", "url": "https://glygen.org/publication/PubMed/12810724" }, { "database": "PubMed", "id": "29681526", "url": "https://glygen.org/publication/PubMed/29681526" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [ { "assessed_biomarker_entity": "Tumor protein gene mutation (TP53)", "biomarker_id": "A0242", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "21720365", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21720365" } ], "instances": [ { "best_biomarker_type": "prognostic", "status": "increased mutation", "disease": { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian 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"tissue": { "name": "ovary", "namespace": "UBERON", "id": "0000992", "url": "http://purl.obolibrary.org/obo/UBERON_0000992" }, "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "21720365", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21720365" } ] } ] }, { "assessed_biomarker_entity": "Ovarian cancer TRIM21, NY-ESO-1, TP53, PAX8 expression panel", "biomarker_id": "A0464", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "32083570", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32083570" } ], "instances": [ { "best_biomarker_type": "risk", "status": "measured TRIM21, NY-ESO-1, TP53, PAX8 level", "disease": { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female 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