{ "uniprot_canonical_ac": "O75521-1", "uniprot_ac": "O75521", "uniprot_id": "ECI2_HUMAN", "mass": { "chemical_mass": 43585.0, "monoisotopic_mass": 43585.0 }, "refseq": { "ac": "NP_001159482", "name": "enoyl-CoA delta isomerase 2 isoform 1", "summary": "This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159482" }, "gene_names": [ { "name": "ECI2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75521", "id": "O75521" }, { "name": "ACBD2; dJ1013A10.3; DRS-1; DRS1; HCA88; PECI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159482", "id": "NP_001159482" }, { "name": "DRS1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75521", "id": "O75521" }, { "name": "ECI2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159482", "id": "NP_001159482" }, { "name": "HCA88", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75521", "id": "O75521" }, { "name": "PECI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75521", "id": "O75521" } ], "protein_names": [ { "name": "Enoyl-CoA delta isomerase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75521" }, { "name": "5.3.3.8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75521" }, { "name": "D3,D2-enoyl-CoA isomerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75521" }, { "name": "DBI-related protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75521" }, { "name": "DRS-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75521" }, { "name": "Delta(3),delta(2)-enoyl-CoA isomerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75521" }, { "name": "Diazepam-binding inhibitor-related protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75521" }, { "name": "Dodecenoyl-CoA isomerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75521" }, { "name": "Hepatocellular carcinoma-associated antigen 88", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75521" }, { "name": "Peroxisomal 3,2-trans-enoyl-CoA isomerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75521" }, { "name": "Renal carcinoma antigen NY-REN-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75521" }, { "name": "acyl-Coenzyme A binding domain containing 2; peroxisomal D3,D2-enoyl-CoA isomerase; peroxisomal 3,2-trans-enoyl-CoA isomerase; hepatocellular carcinoma-associated antigen 88; enoyl-CoA delta isomerase 2, mitochondrial; DBI-related protein 1; dodecenoyl-CoA isomerase; testicular secretory protein Li 33; renal carcinoma antigen NY-REN-1; delta(3),delta(2)-enoyl-CoA isomerase; diazepam-binding inhibitor-related protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159482", "id": "NP_001159482" }, { "name": "enoyl-CoA delta isomerase 2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159482", "id": "NP_001159482" }, { "name": "pECI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75521" } ], "function": [ { "annotation": "Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates.", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521#function" }, { "database": "PubMed", "id": "10419495", "url": "https://glygen.org/publication/PubMed/10419495" } ] }, { "annotation": "Ectopic expression of the ACBD2/ECI2 isoform A in MA-10 cells led to increased basal and hormone-stimulated steroid formation, indicating that ACBD2/ECI2-mediated peroxisomes-mitochondria interactions favor in the exchange of metabolites and/or macromolecules between these 2 organelles in support of steroid biosynthesis. Considering the widespread occurrence of the ACBD2/ECI2 protein, we propose that this protein might se", "evidence": [ { "database": "RefSeq", "id": "NP_001159482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159482" }, { "database": "PubMed", "id": "27167610", "url": "https://glygen.org/publication/PubMed/27167610" } ] }, { "annotation": "Enoyl-CoA delta isomerase 2 (ECI2) is a novel AR-target that promotes prostate cancer cell survival", "evidence": [ { "database": "RefSeq", "id": "NP_001159482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159482" }, { "database": "PubMed", "id": "28415728", "url": "https://glygen.org/publication/PubMed/28415728" } ] }, { "annotation": "This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001159482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159482" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "84.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "93.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "67.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "90.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "82.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "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": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75521" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "common_name": "Human" } ], "gene": [ { "name": "ECI2", "url": "https://www.uniprot.org/uniprot/O75521", "locus": { "chromosome": "6", "start_pos": 4115693, "end_pos": 4135597, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000198721", "url": "https://www.ensembl.org/id/ENSG00000198721" } ] } } ], "crossref": [ { "id": "ENSG00000198721", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198721", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "5.3.3.8", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=5.3.3.8&UniProtAcc=O75521", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd06558", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06558", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ECI2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECI2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10455", "url": "https://www.ncbi.nlm.nih.gov/gene/10455", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "14601", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=14601", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75521", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75521*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000582", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000582", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001753", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001753", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014352", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014352", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014748", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014748", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022408", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022408", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029045", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029045", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035984", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035984", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10455", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10455", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "608024", "url": "http://www.omim.org/entry/608024", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75521", "url": "https://www.nextprot.org/entry/NX_O75521", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75521", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75521", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "DCFTSGN", "url": "https://omabrowser.org/oma/group/DCFTSGN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "553487at2759", "url": "http://www.orthodb.org/?query=553487at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23310", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23310", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23310:SF62", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23310:SF62", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43684:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43684:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2CQU", "url": "https://www.rcsb.org/structure/2CQU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2F6Q", "url": "https://www.rcsb.org/structure/2F6Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4U18", "url": "https://www.rcsb.org/structure/4U18", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4U19", "url": "https://www.rcsb.org/structure/4U19", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4U1A", "url": "https://www.rcsb.org/structure/4U1A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00378", "url": "http://pfam.xfam.org/family/PF00378", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00887", "url": "http://pfam.xfam.org/family/PF00887", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75521", "url": "https://pharos.nih.gov/targets/O75521", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75521", "url": "http://purl.obolibrary.org/obo/PR_O75521", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001159482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159482", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "29847", "url": "https://www.rhea-db.org/rhea/29847", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "45228", "url": "https://www.rhea-db.org/rhea/45228", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "45900", "url": "https://www.rhea-db.org/rhea/45900", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "46044", "url": "https://www.rhea-db.org/rhea/46044", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "46068", "url": "https://www.rhea-db.org/rhea/46068", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "47476", "url": "https://www.rhea-db.org/rhea/47476", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "49852", "url": "https://www.rhea-db.org/rhea/49852", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0C4DGA2", "url": "https://www.uniprot.org/uniprot/A0A0C4DGA2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0C4DGA2-1", "url": "https://www.uniprot.org/uniprot/A0A0C4DGA2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JB63", "url": "https://www.uniprot.org/uniprot/C9JB63", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JB63-1", "url": "https://www.uniprot.org/uniprot/C9JB63-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F1LLU7", "url": "https://www.uniprot.org/uniprot/F1LLU7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F1LLU7-1", "url": "https://www.uniprot.org/uniprot/F1LLU7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W6J1", "url": "https://www.uniprot.org/uniprot/F8W6J1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W6J1-1", "url": "https://www.uniprot.org/uniprot/F8W6J1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WAW4", "url": "https://www.uniprot.org/uniprot/F8WAW4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WAW4-1", "url": "https://www.uniprot.org/uniprot/F8WAW4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75521-1", "url": "https://www.uniprot.org/uniprot/O75521-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75521-2", "url": "https://www.uniprot.org/uniprot/O75521-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAMAYLAWRLARRSCPSSLQVTSFPVVQLHMNRTAMRASQKDFENSMNQVKLLKKDPGNEVKLKLYALYKQATEGPCNMPKPGVFDLINKAKWDAWNALGSLPKEAARQNYVDLVSSLSPSLESSSQVEPGTDRKSTGFETLVVTSEDGITKIMFNRPKKKNAINTEMYHEIMRALKAASKDDSIITVLTGNGDYYSSGNDLTNFTDIPPGGVEEKAKNNAVLLREFVGCFIDFPKPLIAVVNGPAVGISVTLLGLFDAVYASDRATFHTPFSHLGQSPEGCSSYTFPKIMSPAKATEMLIFGKKLTAGEACAQGLVTEVFPDSTFQKEVWTRLKAFAKLPPNALRISKEVIRKREREKLHAVNAEECNVLQGRWLSDECTNAVVNFLSRKSKL", "length": 394, "header": "sp|O75521-1|ECI2_HUMAN Isoform 1 of Enoyl-CoA delta isomerase 2 OS=Homo sapiens OX=9606 GN=ECI2 PE=1 SV=4 CANONICAL=O75521-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DGA2-1", "url": "", "sequence": { "sequence": "MNRTAMRASQKDFENSMNQVKLLKKDPGNEVKLKLYALYKQATEGPCNMPKPGVFDLINKAKWDAWNALGSLPKEAARQNYVDLVSSLSPSLESSSQVEPGTDRKSTGFETLVVTSEDGITKIMFNRPKKKNAINTEMYHEIMRALKAASKDDSIITVLTGNGDYYSSGNDLTNFTDIPPGGVEEKAKNNAVLLREFVGCFIDFPKPLIAVVNGPAVGISVTLLGLFDAVYASDRATFHTPFSHLGQSPEGCSSYTFPKIMSPAKATEMLIFGKKLTAGEACAQGLVTEVFPDSTFQKEVWTRLKAFAKLPPNALRISKEVIRKREREKLHAVNAEECNVLQGRWLSDECTNAVVNFLSRKSKL", "length": 364, "header": "tr|A0A0C4DGA2-1|A0A0C4DGA2_HUMAN Computationally mapped isoform of Testicular secretory protein Li 33 OS=Homo sapiens OX=9606 GN=ECI2 PE=1 SV=1 CANONICAL=O75521-1" }, "locus": { "chromosome": "6", "start_pos": 4133671, "end_pos": 4115877, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361538.6", "url": "https://www.ensembl.org/id/ENST00000361538.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000354737.2", "url": "https://www.ensembl.org/id/ENSP00000354737.2" } ] } }, { "isoform_ac": "C9JB63-1", "url": "", "sequence": { "sequence": "MGASGGQGYGSLSAVPKVSACLRARSHPPGAGLRAGEPPQLSTRACTSQPGCFWGAKRRLLKASSLQVTSFPVVQLHMNRTAMRASQKDFENSMNQVKLLKKDPGNEVKLKLYALYKQATEGPCNMPKPGVFDLINKAKWDAWNALGSLPKEAARQNYVDLVSSLSPSLESSSQVEPGTDRKSTGFETLVVTSEDGITKIMFNRPKKKNAINTEMYHEIM", "length": 220, "header": "tr|C9JB63-1|ECI2_HUMAN Computationally mapped isoform of Enoyl-CoA delta isomerase 2 OS=Homo sapiens OX=9606 GN=ECI2 PE=1 SV=1 CANONICAL=O75521-1" }, "locus": { "chromosome": "6", "start_pos": 4135305, "end_pos": 4127814, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000495548.1", "url": "https://www.ensembl.org/id/ENST00000495548.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417459.1", "url": "https://www.ensembl.org/id/ENSP00000417459.1" } ] } }, { "isoform_ac": "F1LLU7-1", "url": "", "sequence": { "sequence": "MAMAYLAWRLARRSCPSSLQVTSFPVVQLHMNRTAMRASQKDFENSMNQVKLLKKDPGNEVKLKLYALYKQATEGPCNMPKPGVFDLINKAKWDAWNALGSLPKEAARQNYVDLVSSLSPSLESSSQVEPGTDRKSTGFETLVVTSEDGITKIMFNRPKKKNAINTEMYHEIMRALKAASKDDSIITVLTGNISYTI", "length": 197, "header": "tr|F1LLU7-1|F1LLU7_HUMAN Computationally mapped isoform of Enoyl-CoA delta isomerase 2 OS=Homo sapiens OX=9606 GN=ECI2 PE=1 SV=1 CANONICAL=O75521-1" }, "locus": { "chromosome": "6", "start_pos": 4135560, "end_pos": 4119256, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000478266.6", "url": "https://www.ensembl.org/id/ENST00000478266.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000417803.2", "url": "https://www.ensembl.org/id/ENSP00000417803.2" } ] } }, { "isoform_ac": "F8W6J1-1", "url": "", "sequence": { "sequence": "MAMAYLAWRLARRSCPSSLQVTSFPVVQLHMNRTAMRASQKDFENSMNQVKLLKKDPGNEVKLKLYALYKQATEGPCNMPKPGVFDLINKAKWDAWNALGSLPKVLVISIVTFSKCLFIDHGLRLFVIVRSGSCQAELCGFGVQFESFIGIL", "length": 152, "header": "tr|F8W6J1-1|F8W6J1_HUMAN Computationally mapped isoform of Enoyl-CoA delta isomerase 2 OS=Homo sapiens OX=9606 GN=ECI2 PE=1 SV=1 CANONICAL=O75521-1" }, "locus": { "chromosome": "6", "start_pos": 4135560, "end_pos": 4130499, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380120.6", "url": "https://www.ensembl.org/id/ENST00000380120.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000369463.2", "url": "https://www.ensembl.org/id/ENSP00000369463.2" } ] } }, { "isoform_ac": "F8WAW4-1", "url": "", "sequence": { "sequence": "MNRTAMRASQKDFENSMNQVKLLKKDPGNEVKLKLYALYKQATEGPCNMPKPGVFDLINKAKWDAWNALGSLPKEAARQNYVDLVSSLSPSLESSSQVEPGTDRKSTGFETLVVTSEDGITKIMFNRPKKKNAINTEEGW", "length": 140, "header": "tr|F8WAW4-1|ECI2_HUMAN Computationally mapped isoform of Enoyl-CoA delta isomerase 2 OS=Homo sapiens OX=9606 GN=ECI2 PE=1 SV=1 CANONICAL=O75521-1" }, "locus": { "chromosome": "6", "start_pos": 4133671, "end_pos": 4130241, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000496241.6", "url": "https://www.ensembl.org/id/ENST00000496241.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000417170.2", "url": "https://www.ensembl.org/id/ENSP00000417170.2" } ] } }, { "isoform_ac": "O75521-1", "url": "", "sequence": { "sequence": "MAMAYLAWRLARRSCPSSLQVTSFPVVQLHMNRTAMRASQKDFENSMNQVKLLKKDPGNEVKLKLYALYKQATEGPCNMPKPGVFDLINKAKWDAWNALGSLPKEAARQNYVDLVSSLSPSLESSSQVEPGTDRKSTGFETLVVTSEDGITKIMFNRPKKKNAINTEMYHEIMRALKAASKDDSIITVLTGNGDYYSSGNDLTNFTDIPPGGVEEKAKNNAVLLREFVGCFIDFPKPLIAVVNGPAVGISVTLLGLFDAVYASDRATFHTPFSHLGQSPEGCSSYTFPKIMSPAKATEMLIFGKKLTAGEACAQGLVTEVFPDSTFQKEVWTRLKAFAKLPPNALRISKEVIRKREREKLHAVNAEECNVLQGRWLSDECTNAVVNFLSRKSKL", "length": 394, "header": "sp|O75521-1|ECI2_HUMAN Isoform 1 of Enoyl-CoA delta isomerase 2 OS=Homo sapiens OX=9606 GN=ECI2 PE=1 SV=4 CANONICAL=O75521-1" }, "locus": { "chromosome": "6", "start_pos": 4135560, "end_pos": 4115877, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380118.8", "url": "https://www.ensembl.org/id/ENST00000380118.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000369461.3", "url": "https://www.ensembl.org/id/ENSP00000369461.3" } ] } }, { "isoform_ac": "O75521-2", "url": "", "sequence": { "sequence": "MRASQKDFENSMNQVKLLKKDPGNEVKLKLYALYKQATEGPCNMPKPGVFDLINKAKWDAWNALGSLPKEAARQNYVDLVSSLSPSLESSSQVEPGTDRKSTGFETLVVTSEDGITKIMFNRPKKKNAINTEMYHEIMRALKAASKDDSIITVLTGNGDYYSSGNDLTNFTDIPPGGVEEKAKNNAVLLREFVGCFIDFPKPLIAVVNGPAVGISVTLLGLFDAVYASDRATFHTPFSHLGQSPEGCSSYTFPKIMSPAKATEMLIFGKKLTAGEACAQGLVTEVFPDSTFQKEVWTRLKAFAKLPPNALRISKEVIRKREREKLHAVNAEECNVLQGRWLSDECTNAVVNFLSRKSKL", "length": 359, "header": "sp|O75521-2|ECI2_HUMAN Isoform 2 of Enoyl-CoA delta isomerase 2 OS=Homo sapiens OX=9606 GN=ECI2 PE=1 SV=4 CANONICAL=O75521-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75521", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75521" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 101, "end_pos": 101, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75521", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75521" } ], "site_lbl": "Ser101" }, { "start_pos": 119, "end_pos": 119, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75521", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75521" } ], "site_lbl": "Ser119" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular cloning and expression of a novel human cDNA related to the diazepam binding inhibitor.", "journal": "Biochim. Biophys. Acta", "date": "1999", "authors": "Suk K, Kim Y H, Hwang D Y, Ihm S H, Yoo H J, Lee M S", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "reference": [ { "type": "PubMed", "id": "10354522", "url": "https://glygen.org/publication/PubMed/10354522" } ] }, { "title": "Characterization of PECI, a novel monofunctional Delta(3), Delta(2)-enoyl-CoA isomerase of mammalian peroxisomes.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Geisbrecht BV, Zhang D, Schulz H, Gould SJ", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "reference": [ { "type": "PubMed", "id": "10419495", "url": "https://glygen.org/publication/PubMed/10419495" } ] }, { "title": "Antigens recognized by autologous antibody in patients with renal-cell carcinoma.", "journal": "Int. J. Cancer", "date": "1999", "authors": "Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH, Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT, Old LJ", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "reference": [ { "type": "PubMed", "id": "10508479", "url": "https://glygen.org/publication/PubMed/10508479" } ] }, { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.", "journal": "EMBO Rep.", "date": "2000", "authors": "Simpson J C, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "reference": [ { "type": "PubMed", "id": "11256614", "url": "https://glygen.org/publication/PubMed/11256614" } ] }, { "title": "Large scale identification of human hepatocellular carcinoma-associated antigens by autoantibodies.", "journal": "J. Immunol.", "date": "2002", "authors": "Wang Y, Han KJ, Pang XW, Vaughan HA, Qu W, Dong XY, Peng JR, Zhao HT, Rui JA, Leng XS, Cebon J, Burgess AW, Chen WF", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "reference": [ { "type": "PubMed", "id": "12097419", "url": "https://glygen.org/publication/PubMed/12097419" } ] }, { "title": "Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells.", "journal": "Blood", "date": "2004", "authors": "Feng Xingmin, Chuhjo Tatsuya, Sugimori Chiharu, Kotani Takeharu, Lu Xuzhang, Takami Akiyoshi, Takamatsu Hiroyuki, Yamazaki Hirohito, Nakao Shinji", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "reference": [ { "type": "PubMed", "id": "15217832", "url": "https://glygen.org/publication/PubMed/15217832" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" }, { "database": "iPTMnet", "id": "O75521", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75521" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" }, { "database": "iPTMnet", "id": "O75521", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75521" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "ACBD2/ECI2-Mediated Peroxisome-Mitochondria Interactions in Leydig Cell Steroid Biosynthesis.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2016", "authors": "Fan J, Li X, Issop L, Culty M, Papadopoulos V", "evidence": [ { "database": "RefSeq", "id": "NP_001159482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159482" } ], "reference": [ { "type": "PubMed", "id": "27167610", "url": "https://glygen.org/publication/PubMed/27167610" } ] }, { "title": "Lipid degradation promotes prostate cancer cell survival.", "journal": "Oncotarget", "date": "2017", "authors": "Itkonen HM, Brown M, Urbanucci A, Tredwell G, Ho Lau C, Barfeld S, Hart C, Guldvik IJ, Takhar M, Heemers HV, Erho N, Bloch K, Davicioni E, Derua R, Waelkens E, Mohler JL, Clarke N, Swinnen JV, Keun HC, Rekvig OP, Mills IG", "evidence": [ { "database": "RefSeq", "id": "NP_001159482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159482" } ], "reference": [ { "type": "PubMed", "id": "28415728", "url": "https://glygen.org/publication/PubMed/28415728" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75521", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75521" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75521", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75521" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75521", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75521" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75521", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75521" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "pathway": [ { "id": "hsa:10455", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10455", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "F1RWZ4-1", "protein_name": "Enoyl-CoA delta isomerase 2", "gene_name": "ECI2", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MMSRLLPAVSGRVPGVPPTPAMARVVGLLAHRWFSGAFRGPLQVIRCPAPQLHVSGPAMAASQEDFAKAMNQVKLLKEDPGNEVKLKLYALYKQATEGPCNAPKPGMLDFILKAKWDAWNALGNLPKETARQNYVDLVSSLSASSCSQVTPAADKKQAESDSLVVTSEDGITTIRLNRPAKKNALTTQMYRDIMRALEAASEDSSRITVLTGSGDYYCSGNDLSNFKDIPPDKVEERAQSSAVLLRDFVDCFIDFPKPLIAVVNGPAVGISVTLLGLFDVVYASDRATFHTPFSHLGQSPEGCSSYIFPKMMGPSKAAEMLIFGKKLTAREALAQGLVTAVFPDDTFQKEVWARLKAYAKLPPNAMRIAKRLMRHQEKEKLHAVNAEESRVLAERWVSDECITAIVAFLSKKAKL", "length": 415 }, "evidence": [ { "id": "O75521", "url": "https://omabrowser.org/oma/group/O75521/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "Q5XIC0-1", "protein_name": "Enoyl-CoA delta isomerase 2", "gene_name": "Eci2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAVTWSRARCWCPSLLQVLRLPVTKLHLGRPAMRATQQDFENAMNQVKLLKKDPGNEVKLRLYALYKQATEGPCTMPKPGVFDFVNKAKWDAWNALGSLPKETARQNYVDLVSSLSSSSEASSQGKGGADGKAQESKGILVTSEGGITKITFNRPSKKNAITFQMYQDIILALKNASTDDTVITVFTGAGDYYSSGNDLTNFTSASGGMEEAANKGAIVLREFVNTFIDFPKPLVAVVNGPAVGISVTLLGLFDAVYASDRATFHTPFSHLGQSPEACSSYTFPKMMGSAKAAEMLLFGKKLTAREAWAQGLVTEVFPESTFETEVWTRLKTYAKLPPNSMRISKELIRKNEKEKLHAVNEEECTTLRARWLSEECINAIMSFVTRKPKL", "length": 391 }, "evidence": [ { "id": "45931470", "url": "http://www.informatics.jax.org/homology/45931470", "database": "MGI" }, { "id": "45931469", "url": "http://www.informatics.jax.org/homology/45931469", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q78JN3-1", "protein_name": "Enoyl-CoA delta isomerase 3, peroxisomal", "gene_name": "Eci3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPKPGVFNFVNKATWDARNALGSLPKETARKNYVDLVSSLSSSSEAPSQGKRGADEKARESKDILVTSEDGITKITFNRPTKKNAISFQMYLDIMHALKNASTDNSVITVFTGTGDYYSSGNDLKNLINDAGEIQDVVATSTKILREFVNCFIDFPKPLVAVVNGPAVGIAVTILALFDAVFASDRATFHTPFSQLSQIPEACSTYMFPKIMGPTKAAEMLLFGKKLTAREAWAQGLVTEVFPESTFETEVWTRLKTYSKLSPNVMRISKELIRKHEKQKLYTVNAEECAAALERMPREEYAKALRNFLFRKAKAKL", "length": 317 }, "evidence": [ { "id": "45931470", "url": "http://www.informatics.jax.org/homology/45931470", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9WUR2-1", "protein_name": "Enoyl-CoA delta isomerase 2", "gene_name": "Eci2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAVTWSRARCWCPSVLQVFRLQVAKLHLGRPTMRASQQDFENALNQVKLLKKDPGNEVKLRLYALYKQATEGPCNMPKPGMLDFVNKAKWDAWNALGSLPKETARQNYVDLVSSLSSSSEAPSQGKRGADEKARESKDILVTSEDGITKITFNRPTKKNAISFQMYRDIILALKNASTDNTVMAVFTGTGDYYCSGNDLTNFTSATGGIEEAASNGAVLLRDFVNSFIDFPKPLVAVVNGPAVGISVTLLGLFDAVFASDRATFHTPFSQLGQSPEACSSYTFPKMMGSAKAAEMLLFGKKLTAREAWAQGLVTEVFPESTFETEVWTRLKTYAKLPPNAMRISKELIRKNEKEKLYAVNAEECTTLQARWLSEECMNAIMSFVSRKPKL", "length": 391 }, "evidence": [ { "id": "45931469", "url": "http://www.informatics.jax.org/homology/45931469", "database": "MGI" }, { "id": "O75521", "url": "https://omabrowser.org/oma/group/O75521/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "fatty-acyl-CoA binding", "id": "GO:0000062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000062", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "pmid": "" }, { "name": "delta(3)-delta(2)-enoyl-CoA isomerase activity", "id": "GO:0004165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004165", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "pmid": "" }, { "name": "fatty acid catabolic process", "id": "GO:0009062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009062", "evidence": [ { "database": "UniProtKB", "id": "O75521", "url": "https://www.uniprot.org/uniprot/O75521" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 204, "end_pos": 206, "annotation": "n_glycosylation_sequon" }, { "start_pos": 32, "end_pos": 34, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "29847", "name": "", "equation": "(2E)-tetradecenoyl-CoA = (3Z)-tetradecenoyl-CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XIC0-1", "P23965-1", "O75521-1", "P42126-1", "Q9WUR2-1", "P42125-1" ], "evidence": [ { "id": "29847", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/29847" } ] }, { "id": "45228", "name": "", "equation": "a (3E)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07896-1", "P23965-1", "Q5XIC0-1", "P14604-1", "Q08426-1", "O75521-1", "P42126-1", "P30084-1", "P42125-1", "Q9WUR2-1", "Q78JN3-1", "Q9DBM2-1", "Q8BH95-1", "Q05871-1" ], "evidence": [ { "id": "45228", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/45228" } ] }, { "id": "45900", "name": "", "equation": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07896-1", "P23965-1", "Q5XIC0-1", "Q08426-1", "O75521-1", "P42126-1", "P42125-1", "Q9WUR2-1", "Q78JN3-1", "Q9DBM2-1", "Q05871-1" ], "evidence": [ { "id": "45900", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/45900" } ] }, { "id": "46044", "name": "", "equation": "(3Z)-octenoyl-CoA = (2E)-octenoyl-CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XIC0-1", "P23965-1", "O75521-1", "P42126-1", "Q9WUR2-1", "P42125-1" ], "evidence": [ { "id": "46044", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46044" } ] }, { "id": "46068", "name": "", "equation": "(3E)-nonenoyl-CoA = (2E)-nonenoyl-CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XIC0-1", "O75521-1", "Q9WUR2-1", "Q78JN3-1" ], "evidence": [ { "id": "46068", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46068" } ] }, { "id": "47476", "name": "", "equation": "(3E)-tetradecenoyl-CoA = (2E)-tetradecenoyl-CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XIC0-1", "O75521-1", "Q9WUR2-1" ], "evidence": [ { "id": "47476", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47476" } ] }, { "id": "49852", "name": "", "equation": "(3E)-octenoyl-CoA = (2E)-octenoyl-CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XIC0-1", "O75521-1", "Q9WUR2-1" ], "evidence": [ { "id": "49852", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/49852" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O75521", "gene_name": "ECI2", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "O75521", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75521" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "O75521", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75521" } ] } ] }, { "uniprot_ac": "P07896", "gene_name": "Ehhadh", "activity": [ { "ec_number": "4.2.1.17", "activity": "(3S)-3-hydroxyadipyl-CoA = (E)-2,3-didehydroadipoyl-CoA + H2O.", "evidence": [ { "id": "P07896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07896" } ] }, { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "P07896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07896" } ] }, { "ec_number": "1.1.1.35", "activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "P07896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07896" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "P07896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07896" } ] }, { "ec_number": "4.2.1.17", "activity": "", "evidence": [ { "id": "P07896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07896" } ] }, { "ec_number": "1.1.1.35", "activity": "", "evidence": [ { "id": "P07896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07896" } ] } ] }, { "uniprot_ac": "P14604", "gene_name": "Echs1", "activity": [ { "ec_number": "4.2.1.17", "activity": "(3S)-3-hydroxyadipyl-CoA = (E)-2,3-didehydroadipoyl-CoA + H2O.", "evidence": [ { "id": "P14604", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14604" } ] }, { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "P14604", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14604" } ] }, { "ec_number": "4.2.1.17", "activity": "", "evidence": [ { "id": "P14604", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14604" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "P14604", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14604" } ] } ] }, { "uniprot_ac": "P23965", "gene_name": "Eci1", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "P23965", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23965" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "P23965", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23965" } ] } ] }, { "uniprot_ac": "P30084", "gene_name": "ECHS1", "activity": [ { "ec_number": "4.2.1.17", "activity": "(3S)-3-hydroxyadipyl-CoA = (E)-2,3-didehydroadipoyl-CoA + H2O.", "evidence": [ { "id": "P30084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30084" } ] }, { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "P30084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30084" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "P30084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30084" } ] }, { "ec_number": "4.2.1.17", "activity": "", "evidence": [ { "id": "P30084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30084" } ] } ] }, { "uniprot_ac": "P42125", "gene_name": "Eci1", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "P42125", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42125" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "P42125", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42125" } ] } ] }, { "uniprot_ac": "P42126", "gene_name": "ECI1", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "P42126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42126" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "P42126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42126" } ] } ] }, { "uniprot_ac": "Q05871", "gene_name": "ECI1", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "Q05871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05871" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "Q05871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05871" } ] } ] }, { "uniprot_ac": "Q08426", "gene_name": "EHHADH", "activity": [ { "ec_number": "4.2.1.17", "activity": "(3S)-3-hydroxyadipyl-CoA = (E)-2,3-didehydroadipoyl-CoA + H2O.", "evidence": [ { "id": "Q08426", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08426" } ] }, { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "Q08426", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08426" } ] }, { "ec_number": "1.1.1.35", "activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q08426", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08426" } ] } ] }, { "uniprot_ac": "Q5XIC0", "gene_name": "Eci2", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "Q5XIC0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XIC0" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "Q5XIC0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XIC0" } ] } ] }, { "uniprot_ac": "Q78JN3", "gene_name": "Eci3", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "Q78JN3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q78JN3" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "Q78JN3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q78JN3" } ] } ] }, { "uniprot_ac": "Q8BH95", "gene_name": "Echs1", "activity": [ { "ec_number": "4.2.1.17", "activity": "(3S)-3-hydroxyadipyl-CoA = (E)-2,3-didehydroadipoyl-CoA + H2O.", "evidence": [ { "id": "Q8BH95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BH95" } ] }, { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "Q8BH95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BH95" } ] }, { "ec_number": "4.2.1.17", "activity": "", "evidence": [ { "id": "Q8BH95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BH95" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "Q8BH95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BH95" } ] } ] }, { "uniprot_ac": "Q9DBM2", "gene_name": "Ehhadh", "activity": [ { "ec_number": "4.2.1.17", "activity": "(3S)-3-hydroxyadipyl-CoA = (E)-2,3-didehydroadipoyl-CoA + H2O.", "evidence": [ { "id": "Q9DBM2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DBM2" } ] }, { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "Q9DBM2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DBM2" } ] }, { "ec_number": "1.1.1.35", "activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q9DBM2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DBM2" } ] } ] }, { "uniprot_ac": "Q9WUR2", "gene_name": "Eci2", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "Q9WUR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WUR2" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "Q9WUR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WUR2" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 101, 119 ], "sequon_annotation_sites": [ { "start_pos": 204, "end_pos": 206 }, { "start_pos": 32, "end_pos": 34 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }