{ "uniprot_canonical_ac": "P07766-1", "uniprot_ac": "P07766", "uniprot_id": "CD3E_HUMAN", "mass": { "chemical_mass": 23147.0, "monoisotopic_mass": 23147.0 }, "refseq": { "ac": "NP_000724", "name": "T-cell surface glycoprotein CD3 epsilon chain precursor", "summary": "The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000724" }, "gene_names": [ { "name": "CD3E", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07766", "id": "P07766" }, { "name": "CD3E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000724", "id": "NP_000724" }, { "name": "CD3epsilon; IMD18; T3E; TCRE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000724", "id": "NP_000724" }, { "name": "T3E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07766", "id": "P07766" } ], "protein_names": [ { "name": "T-cell surface glycoprotein CD3 epsilon chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07766" }, { "name": "CD3e antigen, epsilon polypeptide (TiT3 complex); CD3-epsilon; T-cell antigen receptor complex, epsilon subunit of T3; T-cell surface antigen T3/Leu-4 epsilon chain; T-cell surface glycoprotein CD3 epsilon chain; CD3e molecule, epsilon (CD3-TCR complex)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000724", "id": "NP_000724" }, { "name": "T-cell surface antigen T3/Leu-4 epsilon chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07766" }, { "name": "T-cell surface glycoprotein CD3 epsilon chain precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000724", "id": "NP_000724" } ], "function": [ { "annotation": "Actin polymerization promotes the recruitment of Nck to the TCR, enhancing downstream signaling, such as phosphorylation of CD3epsilon and lymphocyte activation.", "evidence": [ { "database": "RefSeq", "id": "NP_000724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000724" }, { "database": "PubMed", "id": "31674657", "url": "https://glygen.org/publication/PubMed/31674657" } ] }, { "annotation": "Biallelic Form of a Known CD3E Mutation in a Patient with Severe Combined Immunodeficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_000724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000724" }, { "database": "PubMed", "id": "32016651", "url": "https://glygen.org/publication/PubMed/32016651" } ] }, { "annotation": "Low transcriptomic of PTPRCv1 and CD3E is an independent predictor of mortality in HIV and tuberculosis co-infected patient. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000724" }, { "database": "PubMed", "id": "35710869", "url": "https://glygen.org/publication/PubMed/35710869" } ] }, { "annotation": "Multiple Signaling Roles of CD3epsilon and Its Application in CAR-T Cell Therapy.", "evidence": [ { "database": "RefSeq", "id": "NP_000724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000724" }, { "database": "PubMed", "id": "32730808", "url": "https://glygen.org/publication/PubMed/32730808" } ] }, { "annotation": "Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition of this role of signal transduction in T-cell activation, CD3E plays an essential role in correct T-cell development. Initiates the TCR-CD3 complex assembly by forming the two heterodimers CD3D/CD3E and CD3G/CD3E. Participates also in internalization and cell surface down-regulation of TCR-CD3 complexes via endocytosis sequences present in CD3E cytosolic region (PubMed:10384095, PubMed:26507128).", "evidence": [ { "database": "UniProtKB", "id": "P07766", "url": "https://www.uniprot.org/uniprot/P07766#function" }, { "database": "PubMed", "id": "26507128", "url": "https://glygen.org/publication/PubMed/26507128" }, { "database": "PubMed", "id": "10384095", "url": "https://glygen.org/publication/PubMed/10384095" }, { "database": "PubMed", "id": "15294938", "url": "https://glygen.org/publication/PubMed/15294938" }, { "database": "PubMed", "id": "8490660", "url": "https://glygen.org/publication/PubMed/8490660" }, { "database": "PubMed", "id": "2470098", "url": "https://glygen.org/publication/PubMed/2470098" }, { "database": "PubMed", "id": "15546002", "url": "https://glygen.org/publication/PubMed/15546002" } ] }, { "annotation": "The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000724" } ] } ], "disease": [ { "disease_id": "DOID:0111971", "recommended_name": { "id": "DOID:0111971", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111971", "name": "immunodeficiency 18", "description": "A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3." }, "synonyms": [ { "id": "DOID:0111971", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111971", "name": "CD3-epsilon deficiency", "description": "" }, { "id": "DOID:0111971", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111971", "name": "IMD18", "description": "" }, { "id": "MONDO:0014278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014278", "name": "immunodeficiency 18", "description": "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18." }, { "id": "MONDO:0014278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014278", "name": "CD3-Epsilon deficiency", "description": "" }, { "id": "MONDO:0014278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014278", "name": "IMD18", "description": "" }, { "id": "MONDO:0014278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014278", "name": "immunodeficiency 18", "description": "" }, { "id": "MONDO:0014278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014278", "name": "immunodeficiency 18, SCID variant", "description": "" }, { "id": "MONDO:0014278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014278", "name": "immunodeficiency 18, Severe combined immunodeficiency variant", "description": "" }, { "id": "MONDO:0014278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014278", "name": "immunodeficiency type 18", "description": "" }, { "id": "MIM:615615", "resource": "MIM", "url": "https://www.omim.org/entry/615615", "name": "Immunodeficiency 18", "description": "Immunodeficiency 18" } ], "evidence": [ { "id": "615615", "database": "MIM", "url": "https://www.omim.org/entry/615615" } ] } ], "snv": [ { "evidence": [ { "id": "rs780379117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780379117" }, { "id": "rs780379117", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780379117" }, { "id": "rs780379117", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780379117#frequency_tab" }, { "id": "rs780379117", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780379117" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 205, "end_pos": 205, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQR->NQT).", "chr_id": "11", "chr_pos": "118315532", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1188442723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1188442723" }, { "id": "rs1188442723", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1188442723#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 55, "end_pos": 55, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "11", "chr_pos": "118312678", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S55", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "63.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "52.54", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "74.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "70.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "54.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "65.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "68.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "66.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "73.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198851", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198851" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07766" } ], "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 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"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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07766" } ], "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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P07766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07766" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07766" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"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 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{ "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 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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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07766" } ], "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/P07766" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E9PSH8", "url": "https://www.uniprot.org/uniprot/E9PSH8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PSH8-1", "url": "https://www.uniprot.org/uniprot/E9PSH8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07766", "url": "https://www.uniprot.org/uniprot/P07766", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07766-1", "url": "https://www.uniprot.org/uniprot/P07766-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQSGTHWRVLGLCLLSVGVWGQDGNEEMGGITQTPYKVSISGTTVILTCPQYPGSEILWQHNDKNIGGDEDDKNIGSDEDHLSLKEFSELEQSGYYVCYPRGSKPEDANFYLYLRARVCENCMEMDVMSVATIVIVDICITGGLLLLVYYWSKNRKAKAKPVTRGAGAGGRQRGQNKERPPPVPNPDYEPIRKGQRDLYSGLNQRRI", "length": 207, "header": "sp|P07766-1|CD3E_HUMAN Isoform 1 of T-cell surface glycoprotein CD3 epsilon chain OS=Homo sapiens OX=9606 GN=CD3E PE=1 SV=2 CANONICAL=P07766-1" }, "isoforms": [ { "isoform_ac": "E9PSH8-1", "url": "", "sequence": { "sequence": "MQSGTHWRVLGLCLLSVGVWGQDGNEEMAYKVSISGTTVILTCPQYPGSEILWQHNDKNIGGDEDDKNIGSDEDHLSLKEFSELEQSGYYVCYPRGSKPEDANFYLYLRARVCENCMEMDVMSVATIVIVDICITGGLLLLVYYWSKNRKAKAKPVTRGAGAGGRQRGQNKERPPPVPNPDYEPIRKGQRDLYSGLNQRRI", "length": 201, "header": "tr|E9PSH8-1|E9PSH8_HUMAN Computationally mapped isoform of T-cell surface glycoprotein CD3 epsilon chain OS=Homo sapiens OX=9606 GN=CD3E PE=1 SV=1 CANONICAL=P07766-1" }, "locus": { "chromosome": "11", "start_pos": 118315539, "end_pos": 118304953, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528600.1", "url": "https://www.ensembl.org/id/ENST00000528600.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000433975.1", "url": "https://www.ensembl.org/id/ENSP00000433975.1" } ] } }, { "isoform_ac": "P07766-1", "url": "", "sequence": { "sequence": "MQSGTHWRVLGLCLLSVGVWGQDGNEEMGGITQTPYKVSISGTTVILTCPQYPGSEILWQHNDKNIGGDEDDKNIGSDEDHLSLKEFSELEQSGYYVCYPRGSKPEDANFYLYLRARVCENCMEMDVMSVATIVIVDICITGGLLLLVYYWSKNRKAKAKPVTRGAGAGGRQRGQNKERPPPVPNPDYEPIRKGQRDLYSGLNQRRI", "length": 207, "header": "sp|P07766-1|CD3E_HUMAN Isoform 1 of T-cell surface glycoprotein CD3 epsilon chain OS=Homo sapiens OX=9606 GN=CD3E PE=1 SV=2 CANONICAL=P07766-1" }, "locus": { "chromosome": "11", "start_pos": 118315539, "end_pos": 118304953, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361763.9", "url": "https://www.ensembl.org/id/ENST00000361763.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000354566.4", "url": "https://www.ensembl.org/id/ENSP00000354566.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 55, "start_aa": "Ser", "end_pos": 55, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser55", "evidence": [ { "id": "P07766", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P07766" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P07766", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07766" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" } ] } ], "phosphorylation": [ { "start_pos": 188, "end_pos": 188, "kinase_uniprot_canonical_ac": "P06239-1", "kinase_gene_name": "LCK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07766" }, { "database": "PubMed", "id": "11855827", "url": "https://glygen.org/publication/PubMed/11855827" } ], "site_lbl": "Tyr188" }, { "start_pos": 188, "end_pos": 188, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P07766", "url": "https://www.uniprot.org/uniprot/P07766" }, { "database": "PubMed", "id": "9698567", "url": "https://glygen.org/publication/PubMed/9698567" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "IntAct", "id": "P07766", "url": "https://www.ebi.ac.uk/intact/interactors/id:P07766*" }, { "database": "iPTMnet", "id": "P07766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07766" }, { "database": "PubMed", "id": "11855827", "url": "https://glygen.org/publication/PubMed/11855827" }, { "database": "PubMed", "id": "7761456", "url": "https://glygen.org/publication/PubMed/7761456" }, { "database": "phospho.ELM", "id": "P07766", "url": "http://phospho.elm.eu.org/byAccession/P07766.html" }, { "database": "PubMed", "id": "15659558", "url": "https://glygen.org/publication/PubMed/15659558" }, { "database": "PubMed", "id": "16094384", "url": "https://glygen.org/publication/PubMed/16094384" }, { "database": "PRO", "id": "P07766", "url": "http://purl.obolibrary.org/obo/P07766" } ], "site_lbl": "Tyr188" }, { "start_pos": 199, "end_pos": 199, "kinase_uniprot_canonical_ac": "P06239-1", "kinase_gene_name": "LCK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07766" }, { "database": "PubMed", "id": "11855827", "url": "https://glygen.org/publication/PubMed/11855827" } ], "site_lbl": "Tyr199" }, { "start_pos": 199, "end_pos": 199, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P07766", "url": "https://www.uniprot.org/uniprot/P07766" }, { "database": "PubMed", "id": "9698567", "url": "https://glygen.org/publication/PubMed/9698567" }, { "database": "IntAct", "id": "P07766", "url": "https://www.ebi.ac.uk/intact/interactors/id:P07766*" }, { "database": "iPTMnet", "id": "P07766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07766" }, { "database": "PubMed", "id": "11855827", "url": "https://glygen.org/publication/PubMed/11855827" }, { "database": "PubMed", "id": "7761456", "url": "https://glygen.org/publication/PubMed/7761456" }, { "database": "phospho.ELM", "id": "P07766", "url": "http://phospho.elm.eu.org/byAccession/P07766.html" }, { "database": "PubMed", "id": "12522270", "url": "https://glygen.org/publication/PubMed/12522270" }, { "database": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "PubMed", "id": "15659558", "url": "https://glygen.org/publication/PubMed/15659558" }, { "database": "PubMed", "id": "16094384", "url": "https://glygen.org/publication/PubMed/16094384" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "PRO", "id": "P07766", "url": "http://purl.obolibrary.org/obo/P07766" } ], "site_lbl": "Tyr199" }, { "start_pos": 200, "end_pos": 200, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07766" }, { "database": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" } ], "site_lbl": "Ser200" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The CD3 epsilon subunit of the TCR contains endocytosis signals.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999-07-01", "authors": "Borroto A, Lama J, Niedergang F, Dautry-Varsat A, Alarc\u00f3n B, Alcover A", "evidence": [ { "database": "UniProtKB", "id": "P07766", "url": "https://www.uniprot.org/uniprot/P07766" } ], "reference": [ { "type": "PubMed", "id": "10384095", "url": "https://glygen.org/publication/PubMed/10384095" } ] }, { "title": "Identification and molecular cloning of p75/AIRM1, a novel member of the sialoadhesin family that functions as an inhibitory receptor in human natural killer cells.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Falco M, Biassoni R, Bottino C, Vitale M, Sivori S, Augugliaro R, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "10499918", "url": "https://glygen.org/publication/PubMed/10499918" } ] }, { "title": "Functional association between SLAP-130 and SLP-76 in Jurkat T cells.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Boerth NJ, Judd BA, Koretzky GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202433" } ], "reference": [ { "type": "PubMed", "id": "10671560", "url": "https://glygen.org/publication/PubMed/10671560" } ] }, { "title": "The PI3K-PDK1 connection: more than just a road to PKB.", "journal": "The Biochemical journal", "date": "2000", "authors": "Vanhaesebroeck B, Alessi DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-202424", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202424" } ], "reference": [ { "type": "PubMed", "id": "10698680", "url": "https://glygen.org/publication/PubMed/10698680" } ] }, { "title": "Structure, function, and biology of SHIP proteins.", "journal": "Genes & development", "date": "2000", "authors": "Rohrschneider LR, Fuller JF, Wolf I, Liu Y, Lucas DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-202424", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202424" } ], "reference": [ { "type": "PubMed", "id": "10716940", "url": "https://glygen.org/publication/PubMed/10716940" } ] }, { "title": "The CMRF-35H gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome 17.", "journal": "Tissue antigens", "date": "2000", "authors": "Clark GJ, Green BJ, Hart DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "10746781", "url": "https://glygen.org/publication/PubMed/10746781" } ] }, { "title": "Fyn-binding protein (Fyb)/SLP-76-associated protein (SLAP), Ena/vasodilator-stimulated phosphoprotein (VASP) proteins and the Arp2/3 complex link T cell receptor (TCR) signaling to the actin cytoskeleton.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Krause M, Sechi AS, Konradt M, Monner D, Gertler FB, Wehland J", "evidence": [ { "database": "Reactome", "id": "R-HSA-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202433" } ], "reference": [ { "type": "PubMed", "id": "10747096", "url": "https://glygen.org/publication/PubMed/10747096" } ] }, { "title": "Phosphoprotein associated with glycosphingolipid-enriched microdomains (PAG), a novel ubiquitously expressed transmembrane adaptor protein, binds the protein tyrosine kinase csk and is involved in regulation of T cell activation.", "journal": "The Journal of experimental medicine", "date": "2000", "authors": "Brdicka T, Pavlistova D, Leo A, Bruyns E, Korinek V, Angelisova P, Scherer J, Shevchenko A, Hilgert I, Cerny J, Drbal K, Kuramitsu Y, Kornacker B, Horejsi V, Schraven B", "evidence": [ { "database": "Reactome", "id": "R-HSA-202427", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202427" } ], "reference": [ { "type": "PubMed", "id": "10790433", "url": "https://glygen.org/publication/PubMed/10790433" } ] }, { "title": "Association of Grb2, Gads, and phospholipase C-gamma 1 with phosphorylated LAT tyrosine residues. Effect of LAT tyrosine mutations on T cell angigen receptor-mediated signaling.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Zhang W, Trible RP, Zhu M, Liu SK, McGlade CJ, Samelson LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202433" } ], "reference": [ { "type": "PubMed", "id": "10811803", "url": "https://glygen.org/publication/PubMed/10811803" } ] }, { "title": "The mechanism of phospholipase C-gamma1 regulation.", "journal": "Experimental & molecular medicine", "date": "2000", "authors": "Kim MJ, Kim E, Ryu SH, Suh PG", "evidence": [ { "database": "Reactome", "id": "R-HSA-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202433" } ], "reference": [ { "type": "PubMed", "id": "11048639", "url": "https://glygen.org/publication/PubMed/11048639" } ] }, { "title": "Identification of NKp80, a novel triggering molecule expressed by human NK cells.", "journal": "European journal of immunology", "date": "2001", "authors": "Vitale M, Falco M, Castriconi R, Parolini S, Zambello R, Semenzato G, Biassoni R, Bottino C, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11265639", "url": "https://glygen.org/publication/PubMed/11265639" } ] }, { "title": "Protein kinase C theta is expressed in mast cells and is functionally involved in Fcepsilon receptor I signaling.", "journal": "Journal of leukocyte biology", "date": "2001", "authors": "Liu Y, Graham C, Parravicini V, Brown MJ, Rivera J, Shaw S", "evidence": [ { "database": "Reactome", "id": "R-HSA-202424", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202424" } ], "reference": [ { "type": "PubMed", "id": "11358993", "url": "https://glygen.org/publication/PubMed/11358993" } ] }, { "title": "Identification of a phospholipase C-gamma1 (PLC-gamma1) SH3 domain-binding site in SLP-76 required for T-cell receptor-mediated activation of PLC-gamma1 and NFAT.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Yablonski D, Kadlecek T, Weiss A", "evidence": [ { "database": "Reactome", "id": "R-HSA-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202433" } ], "reference": [ { "type": "PubMed", "id": "11390650", "url": "https://glygen.org/publication/PubMed/11390650" } ] }, { "title": "NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease.", "journal": "The Journal of experimental medicine", "date": "2001", "authors": "Bottino C, Falco M, Parolini S, Marcenaro E, Augugliaro R, Sivori S, Landi E, Biassoni R, Notarangelo LD, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": 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