{ "uniprot_canonical_ac": "P05108-1", "uniprot_ac": "P05108", "uniprot_id": "CP11A_HUMAN", "mass": { "chemical_mass": 60102.0, "monoisotopic_mass": 60102.0 }, "refseq": { "ac": "NP_000772", "name": "cholesterol side-chain cleavage enzyme, mitochondrial isoform a precursor", "summary": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772" }, "gene_names": [ { "name": "CYP11A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05108", "id": "P05108" }, { "name": "CYP11A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772", "id": "NP_000772" }, { "name": "CYP11A; CYPXIA1; P450SCC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772", "id": "NP_000772" }, { "name": "CYP11A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05108", "id": "P05108" } ], "protein_names": [ { "name": "Cholesterol side-chain cleavage enzyme, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05108" }, { "name": "1.14.15.6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05108" }, { "name": "CYPXIA1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05108" }, { "name": "Cholesterol desmolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05108" }, { "name": "Cytochrome P450 11A1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05108" }, { "name": "Cytochrome P450(scc)", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05108" }, { "name": "cholesterol 20-22 desmolase; cholesterol monooxygenase (side-chain cleaving); steroid 20-22-lyase; cytochrome P450, subfamily XIA (cholesterol side chain cleavage); cholesterol side-chain cleavage enzyme, mitochondrial; cytochrome P450 11A1; cytochrome P450(scc); cytochrome P450 family 11 subfamily A polypeptide 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772", "id": "NP_000772" }, { "name": "cholesterol side-chain cleavage enzyme, mitochondrial isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772", "id": "NP_000772" } ], "function": [ { "annotation": "A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones. Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R-hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin).", "evidence": [ { "database": "UniProtKB", "id": "C9JXV4", "url": "https://www.uniprot.org/uniprot/C9JXV4#function" }, { "database": "UniProtKB", "id": "RU364077", "url": "https://www.uniprot.org/uniprot/RU364077#function" }, { "database": "UniProtKB", "id": "C9JPU9", "url": "https://www.uniprot.org/uniprot/C9JPU9#function" }, { "database": "UniProtKB", "id": "P05108", "url": "https://www.uniprot.org/uniprot/P05108#function" }, { "database": "PubMed", "id": "21636783", "url": "https://glygen.org/publication/PubMed/21636783" }, { "database": "UniProtKB", "id": "E7EPP8", "url": "https://www.uniprot.org/uniprot/E7EPP8#function" }, { "database": "UniProtKB", "id": "H3BSZ1", "url": "https://www.uniprot.org/uniprot/H3BSZ1#function" } ] }, { "annotation": "Exploring the impact of CYP11A1's missense SNPs on the interaction between CYP11A1 and cholesterol: A comprehensive structural analysis and MD simulation study.", "evidence": [ { "database": "RefSeq", "id": "NP_000772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772" }, { "database": "PubMed", "id": "37552904", "url": "https://glygen.org/publication/PubMed/37552904" } ] }, { "annotation": "In-Silico Investigation of Effects of Single-Nucleotide Polymorphisms in PCOS-Associated CYP11A1 Gene on Mutated Proteins. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772" }, { "database": "PubMed", "id": "35886014", "url": "https://glygen.org/publication/PubMed/35886014" } ] }, { "annotation": "Placental DNA methylation analysis of selective fetal growth restriction in monochorionic twins reveals aberrant methylated CYP11A1 gene for fetal growth restriction.", "evidence": [ { "database": "RefSeq", "id": "NP_000772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772" }, { "database": "PubMed", "id": "37732623", "url": "https://glygen.org/publication/PubMed/37732623" } ] }, { "annotation": "The Role of DNMT1 and C/EBPalpha in the Regulation of CYP11A1 Expression During Syncytialization of Human Placental Trophoblasts.", "evidence": [ { "database": "RefSeq", "id": "NP_000772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772" }, { "database": "PubMed", "id": "38146648", "url": "https://glygen.org/publication/PubMed/38146648" } ] }, { "annotation": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772" } ] }, { "annotation": "Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772" }, { "database": "PubMed", "id": "36593618", "url": "https://glygen.org/publication/PubMed/36593618" } ] } ], "disease": [ { "disease_id": "DOID:0050546", "recommended_name": { "id": "DOID:0050546", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050546", "name": "congenital adrenal insufficiency", "description": "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase." }, "synonyms": [ { "id": "DOID:0050546", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050546", "name": "Adrenal insufficiency, congenital, with 46,XY sex reversal", "description": "" }, { "id": "DOID:0050546", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050546", "name": "P450scc DEFICIENCY", "description": "" }, { "id": "DOID:0050546", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050546", "name": "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE", "description": "" }, { "id": "MONDO:0013400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013400", "name": "Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency", "description": "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels." }, { "id": "MONDO:0013400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013400", "name": "XY sex reversal-adrenal failure", "description": "" }, { "id": "MONDO:0013400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013400", "name": "XY sex reversal-adrenal failure syndrome", "description": "" }, { "id": "MONDO:0013400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013400", "name": "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete", "description": "" }, { "id": "MONDO:0013400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013400", "name": "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete", "description": "" }, { "id": "MONDO:0013400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013400", "name": "cholesterol side-chain cleavage deficiency", "description": "" }, { "id": "MONDO:0013400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013400", "name": "p450scc deficiency", "description": "" }, { "id": "MONDO:0013400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013400", "name": "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency", "description": "" }, { "id": "MONDO:0013400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013400", "name": "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome", "description": "" }, { "id": "MIM:613743", "resource": "MIM", "url": "https://www.omim.org/entry/613743", "name": "Adrenal insufficiency, congenital, with 46,XY sex reversal", "description": "Adrenal insufficiency, congenital, with 46,XY sex reversal" } ], "evidence": [ { "id": "613743", "database": "MIM", "url": "https://www.omim.org/entry/613743" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "53.95", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "60.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "49.3", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "68.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "60.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "54.94", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "51.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "61.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "64.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "66.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140459" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P05108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05108" } ], "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 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"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, 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"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 - 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"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", 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"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", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P05108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05108" } ], "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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P05108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05108" } ], "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": "P05108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05108" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05108" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P05108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05108" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P05108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05108" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P05108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05108" } ], "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": 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"https://www.nextprot.org/entry/NX_P05108", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "QVANYAM", "url": "https://omabrowser.org/oma/group/QVANYAM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2658719at2759", "url": "http://www.orthodb.org/?query=2658719at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24279:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24279:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3N9Y", "url": "https://www.rcsb.org/structure/3N9Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3N9Z", "url": "https://www.rcsb.org/structure/3N9Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NA0", "url": "https://www.rcsb.org/structure/3NA0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NA1", "url": "https://www.rcsb.org/structure/3NA1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00067", "url": "http://pfam.xfam.org/family/PF00067", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P05108", "url": "https://pharos.nih.gov/targets/P05108", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P05108", "url": "http://purl.obolibrary.org/obo/PR_P05108", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-196108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196108", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5579026", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579026", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "34335", "url": "https://www.rhea-db.org/rhea/34335", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "34339", "url": "https://www.rhea-db.org/rhea/34339", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "34343", "url": "https://www.rhea-db.org/rhea/34343", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "35739", "url": "https://www.rhea-db.org/rhea/35739", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "C9JPU9", "url": "https://www.uniprot.org/uniprot/C9JPU9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JPU9-1", "url": "https://www.uniprot.org/uniprot/C9JPU9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JXV4", "url": "https://www.uniprot.org/uniprot/C9JXV4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JXV4-1", "url": "https://www.uniprot.org/uniprot/C9JXV4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EPP8", "url": "https://www.uniprot.org/uniprot/E7EPP8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EPP8-1", "url": "https://www.uniprot.org/uniprot/E7EPP8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BS93", "url": "https://www.uniprot.org/uniprot/H3BS93", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BS93-1", "url": "https://www.uniprot.org/uniprot/H3BS93-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSZ1", "url": "https://www.uniprot.org/uniprot/H3BSZ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSZ1-1", "url": "https://www.uniprot.org/uniprot/H3BSZ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05108", "url": "https://www.uniprot.org/uniprot/P05108", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05108-1", "url": "https://www.uniprot.org/uniprot/P05108-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05108-2", "url": "https://www.uniprot.org/uniprot/P05108-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSPRPFNEIPSPGDNGWLNLYHFWRETGTHKVHLHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPERFLIPPWVAYHQYYQRPIGVLLKKSAAWKKDRVALNQEVMAPEATKNFLPLLDAVSRDFVSVLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQMFHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRGILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAARHQAQGDMATMLQLVPLLKASIKETLRLHPISVTLQRYLVNDLVLRDYMIPAKTLVQVAIYALGREPTFFFDPENFDPTRWLSKDKNITYFRNLGFGWGVRQCLGRRIAELEMTIFLINMLENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQEATQQ", "length": 521, "header": "sp|P05108-1|CP11A_HUMAN Isoform 1 of Cholesterol side-chain cleavage enzyme, mitochondrial OS=Homo sapiens OX=9606 GN=CYP11A1 PE=1 SV=2 CANONICAL=P05108-1" }, "isoforms": [ { "isoform_ac": "C9JPU9-1", "url": "", "sequence": { "sequence": "MAPEATKNFLPLLDAVSRDFVSVLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQMFHTSVPMLNLPPDL", "length": 96, "header": "tr|C9JPU9-1|CP11A_HUMAN Computationally mapped isoform of Cholesterol side-chain cleavage enzyme, mitochondrial OS=Homo sapiens OX=9606 GN=CYP11A1 PE=1 SV=2 CANONICAL=P05108-1" }, "locus": { "chromosome": "15", "start_pos": 74345194, "end_pos": 74343856, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450547.1", "url": "https://www.ensembl.org/id/ENST00000450547.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000402064.1", "url": "https://www.ensembl.org/id/ENSP00000402064.1" } ] } }, { "isoform_ac": "C9JXV4-1", "url": "", "sequence": { "sequence": "MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSPRPFNEIPSPGDNGWLNLYHFWRETGTHKVHLHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPERFLIPPWVAYHQYYQRPIGVLLKPGVCDHEGLWAHVFSGSRQPGRKTGW", "length": 168, "header": "tr|C9JXV4-1|CP11A_HUMAN Computationally mapped isoform of Cholesterol side-chain cleavage enzyme, mitochondrial OS=Homo sapiens OX=9606 GN=CYP11A1 PE=1 SV=1 CANONICAL=P05108-1" }, "locus": { "chromosome": "15", "start_pos": 74367585, "end_pos": 74345212, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416978.1", "url": "https://www.ensembl.org/id/ENST00000416978.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000388018.1", "url": "https://www.ensembl.org/id/ENSP00000388018.1" } ] } }, { "isoform_ac": "E7EPP8-1", "url": "", "sequence": { "sequence": "MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSPRPFNEIPSPGDNGWLNLYHFWRETGTHKVHLHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPERFLIPPWVAYHQYYQRPIGVLLKKSAAWKKDRVALNQEVMAPEATKNFLPLLDAVSRDFVSVLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQMFHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRGILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAARHQAQGDMATMLQLVPLLKASIKETLRHWCKWPSMLWAESPPSSSTRKILTQPDG", "length": 414, "header": "tr|E7EPP8-1|CP11A_HUMAN Computationally mapped isoform of Cholesterol side-chain cleavage enzyme, mitochondrial OS=Homo sapiens OX=9606 GN=CYP11A1 PE=1 SV=1 CANONICAL=P05108-1" }, "locus": { "chromosome": "15", "start_pos": 74367585, "end_pos": 74338684, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435365.5", "url": "https://www.ensembl.org/id/ENST00000435365.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391081.1", "url": "https://www.ensembl.org/id/ENSP00000391081.1" } ] } }, { "isoform_ac": "H3BS93-1", "url": "", "sequence": { "sequence": "MAPEATKNFLPLLDAVSRDFVSVLHR", "length": 26, "header": "tr|H3BS93-1|CP11A_HUMAN Computationally mapped isoform of Cholesterol side-chain cleavage enzyme, mitochondrial OS=Homo sapiens OX=9606 GN=CYP11A1 PE=1 SV=8 CANONICAL=P05108-1" }, "locus": { "chromosome": "15", "start_pos": 74345194, "end_pos": 74345117, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569662.1", "url": "https://www.ensembl.org/id/ENST00000569662.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456598.1", "url": "https://www.ensembl.org/id/ENSP00000456598.1" } ] } }, { "isoform_ac": "H3BSZ1-1", "url": "", "sequence": { "sequence": "MAPEATKNFLPLLDAVSRDFVSVLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQMFHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRGILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAARHQAQGDMATMLQLVPLLKASIKETL", "length": 227, "header": "tr|H3BSZ1-1|H3BSZ1_HUMAN Computationally mapped isoform of Cholesterol side-chain cleavage enzyme, mitochondrial OS=Homo sapiens OX=9606 GN=CYP11A1 PE=1 SV=1 CANONICAL=P05108-1" }, "locus": { "chromosome": "15", "start_pos": 74345194, "end_pos": 74339589, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566674.5", "url": "https://www.ensembl.org/id/ENST00000566674.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456941.1", "url": "https://www.ensembl.org/id/ENSP00000456941.1" } ] } }, { "isoform_ac": "P05108-1", "url": "", "sequence": { "sequence": "MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSPRPFNEIPSPGDNGWLNLYHFWRETGTHKVHLHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPERFLIPPWVAYHQYYQRPIGVLLKKSAAWKKDRVALNQEVMAPEATKNFLPLLDAVSRDFVSVLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQMFHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRGILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAARHQAQGDMATMLQLVPLLKASIKETLRLHPISVTLQRYLVNDLVLRDYMIPAKTLVQVAIYALGREPTFFFDPENFDPTRWLSKDKNITYFRNLGFGWGVRQCLGRRIAELEMTIFLINMLENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQEATQQ", "length": 521, "header": "sp|P05108-1|CP11A_HUMAN Isoform 1 of Cholesterol side-chain cleavage enzyme, mitochondrial OS=Homo sapiens OX=9606 GN=CYP11A1 PE=1 SV=2 CANONICAL=P05108-1" }, "locus": { "chromosome": "HG2198_PATCH", "start_pos": 196854, "end_pos": 167244, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672385.1", "url": "https://www.ensembl.org/id/ENST00000672385.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500767.1", "url": "https://www.ensembl.org/id/ENSP00000500767.1" } ] } }, { "isoform_ac": "P05108-2", "url": "", "sequence": { "sequence": "MAPEATKNFLPLLDAVSRDFVSVLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQMFHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRGILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAARHQAQGDMATMLQLVPLLKASIKETLRLHPISVTLQRYLVNDLVLRDYMIPAKTLVQVAIYALGREPTFFFDPENFDPTRWLSKDKNITYFRNLGFGWGVRQCLGRRIAELEMTIFLINMLENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQEATQQ", "length": 363, "header": "sp|P05108-2|CP11A_HUMAN Isoform 2 of Cholesterol side-chain cleavage enzyme, mitochondrial OS=Homo sapiens OX=9606 GN=CYP11A1 PE=1 SV=2 CANONICAL=P05108-1" }, "locus": { "chromosome": "HG2198_PATCH", "start_pos": 174463, "end_pos": 167244, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672913.1", "url": "https://www.ensembl.org/id/ENST00000672913.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499849.1", "url": "https://www.ensembl.org/id/ENSP00000499849.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Characterization of single-nucleotide polymorphisms in coding regions of human genes.", "journal": "Nat. Genet.", "date": "1999", "authors": "Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES", "evidence": [ { "database": "UniProtKB", "id": "P05108", "url": "https://www.uniprot.org/uniprot/P05108" } ], "reference": [ { "type": "PubMed", "id": "10391209", "url": "https://glygen.org/publication/PubMed/10391209" } ] }, { "title": "Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1.", "journal": "Journal of lipid research", "date": "1999", "authors": "Wu Z, Martin KO, Javitt NB, Chiang JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "10588945", "url": "https://glygen.org/publication/PubMed/10588945" } ] }, { "title": "Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL", "evidence": [ { "database": "UniProtKB", "id": "P05108", "url": "https://www.uniprot.org/uniprot/P05108" }, { "database": "Reactome", "id": "R-HSA-5579026", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579026" } ], "reference": [ { "type": "PubMed", "id": "11502818", "url": "https://glygen.org/publication/PubMed/11502818" } ] }, { "title": "Role of human cytochrome P450 1A1, 1A2, 1B1, and 3A4 in the 2-, 4-, and 16alpha-hydroxylation of 17beta-estradiol.", "journal": "Metabolism: clinical and experimental", "date": "2001", "authors": "Badawi AF, Cavalieri EL, Rogan EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "11555828", "url": "https://glygen.org/publication/PubMed/11555828" } ] }, { "title": "Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Katsumata N, Ohtake M, Hojo T, Ogawa E, Hara T, Sato N, Tanaka T", "evidence": [ { "database": "UniProtKB", "id": "P05108", "url": "https://www.uniprot.org/uniprot/P05108" } ], "reference": [ { "type": "PubMed", "id": "12161514", "url": "https://glygen.org/publication/PubMed/12161514" } ] }, { "title": "Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.", "journal": "American journal of human genetics", "date": "2004", "authors": "Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "15042513", "url": "https://glygen.org/publication/PubMed/15042513" } ] }, { "title": "Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2005", "authors": "Hiort O, Holterhus PM, Werner R, Marschke C, Hoppe U, Partsch CJ, Riepe FG, Achermann JC, Struve D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5579026", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579026" } ], "reference": [ { "type": "PubMed", "id": "15507506", "url": "https://glygen.org/publication/PubMed/15507506" } ] }, { "title": "Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2006", "authors": "al Kandari H, Katsumata N, Alexander S, Rasoul MA", "evidence": [ { "database": "UniProtKB", "id": "P05108", "url": "https://www.uniprot.org/uniprot/P05108" } ], "reference": [ { "type": "PubMed", "id": "16705068", "url": "https://glygen.org/publication/PubMed/16705068" } ] }, { "title": "StAR search--what we know about how the steroidogenic acute regulatory protein mediates mitochondrial cholesterol import.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007", "authors": "Miller WL", "evidence": [ { "database": "Reactome", "id": "R-HSA-196108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196108" } ], "reference": [ { "type": "PubMed", "id": "16973755", "url": "https://glygen.org/publication/PubMed/16973755" } ] }, { "title": "Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Cali JJ, Russell DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "1708392", "url": "https://glygen.org/publication/PubMed/1708392" } ] }, { "title": "Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Kawamoto T, Mitsuuchi Y, Toda K, Yokoyama Y, Miyahara K, Miura S, Ohnishi T, Ichikawa Y, Nakao K, Imura H, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "1741400", "url": "https://glygen.org/publication/PubMed/1741400" } ] }, { "title": "Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2008", "authors": "Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL", "evidence": [ { "database": "UniProtKB", "id": "P05108", "url": "https://www.uniprot.org/uniprot/P05108" } ], "reference": [ { "type": "PubMed", "id": "18182448", "url": "https://glygen.org/publication/PubMed/18182448" } ] }, { "title": "Regulated expression of cytochrome P-450scc (cholesterol-side-chain cleavage enzyme) in cultured cell lines detected by antibody against bacterially expressed human protein.", "journal": "Biochem. 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"end_pos": 195, "annotation": "n_glycosylation_sequon" }, { "start_pos": 319, "end_pos": 321, "annotation": "n_glycosylation_sequon" }, { "start_pos": 446, "end_pos": 448, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "34335", "name": "", "equation": "cholesterol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = (22R)-hydroxycholesterol + H2O + 2 oxidized [adrenodoxin]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14137-1", "P05108-1", "Q9QZ82-1" ], "evidence": [ { "id": "34335", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/34335" } ] }, { "id": "34339", "name": "", "equation": "(22R)-hydroxycholesterol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = (20R,22R)-20,22-dihydroxycholesterol + H2O + 2 oxidized [adrenodoxin]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14137-1", "P05108-1", "Q9QZ82-1" ], "evidence": [ { "id": "34339", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/34339" } ] }, { "id": "34343", "name": "", "equation": "(20R,22R)-20,22-dihydroxycholesterol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 4-methylpentanal + 2 H2O + 2 oxidized [adrenodoxin] + pregnenolone", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14137-1", "P05108-1", "Q9QZ82-1" ], "evidence": [ { "id": "34343", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/34343" } ] }, { "id": "35739", "name": "", "equation": "cholesterol + 6 H(+) + 3 O2 + 6 reduced [adrenodoxin] = 4-methylpentanal + 4 H2O + 6 oxidized [adrenodoxin] + pregnenolone", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14137-1", "P05108-1", "Q9QZ82-1" ], "evidence": [ { "id": "35739", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/35739" } ] }, { "id": "R-HSA-193054", "name": "Oxidation of cholesterol to 22beta-hydroxycholesterol", "equation": "", "summary": "Cholesterol and NADPH + H+ react to form 22beta-hydroxycholesterol, NADP+, and H2O, catalyzed by CYP11A (P450scc) associated with the inner mitochondrial membrane.", "cellular_location": "mitochondrial inner membrane, mitochondrial matrix", "input_participant_list": [ "R-ALL-193156" ], "output_participant_list": [], "enzyme_list": [ "P22570-1", "P05108-1" ], "evidence": [ { "id": "R-HSA-193054", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193054" } ] }, { "id": "R-HSA-193065", "name": "Oxidation of 22beta-hydroxycholesterol to 20alpha,22beta-hydroxycholesterol", "equation": "", "summary": "22beta-hydroxycholesterol, NADPH + H+, and O2 react to form 20alpha,22beta-hydroxycholesterol, NADP+ and H2O, catalyzed by CYP11A (P450scc) associated with the inner mitochondrial membrane.", "cellular_location": "mitochondrial inner membrane, mitochondrial matrix", "input_participant_list": [ "R-ALL-193019" ], "output_participant_list": [], "enzyme_list": [ "P22570-1", "P05108-1" ], "evidence": [ { "id": "R-HSA-193065", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193065" } ] }, { "id": "R-HSA-193101", "name": "CYP11A1 cleaves 20a,22b-DHCHOL", "equation": "", "summary": "20alpha,22beta-hydroxycholesterol (20a,22b-DHCHOL), NADPH + H+, and O2 react to form pregnenolone (PREG), isocaproaldehyde (ISCAL), NADP+ and H2O. This cleavage reaction is catalysed by CYP11A (P450scc) associated with the inner mitochondrial membrane (Strushkevich et al. 2011). PREG is substantially more hydrophilic than cholesterol (CHOL) and hydroxycholesterol (HCHOL) and is released into the mitochondrial matrix.", "cellular_location": "mitochondrial inner membrane, mitochondrial matrix", "input_participant_list": [ "R-ALL-193086" ], "output_participant_list": [ "R-ALL-193046", "R-ALL-193164" ], "enzyme_list": [ "P22570-1", "P05108-1" ], "evidence": [ { "id": "R-HSA-193101", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193101" } ] }, { "id": "R-HSA-5580269", "name": "Defective CYP11A1 does not cleave 20a,22b-DHCHOL", "equation": "", "summary": "Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11A1) normally catalyses the side-chain cleavage of cholesterol to form pregnenolone. CYP11A1 is the active unit of a complex comprising adrenodoxin reductase (FDXR), adrenodoxin (FDX, or adrenodoxin-like protein FDX1L) (Strushkevich et al. 2011). Defects in CYP11A1 can cause Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR; MIM:613743). This is a rare disorder that can present as acute adrenal insufficiency in infancy with elevated ACTH and plasma renin activity and low or absent adrenal steroids. Although milder forms can present, associated with partial loss of enzyme activity, the severest phenotype is associated with prematurity, complete underandrogenisation and severe, early-onset adrenal failure. CYP11A1 mutations causing complete loss of function are a 6bp insertion resulting in the insertion of glycine and aspartate codons, a 1bp deletion resulting in a premature stop at 288 and the missense mutation V415E (Tajima et al. 2001, Hiort et al. 2005, Kim et al. 2008, Sahakitrungruang et al. 2010).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22570-1", "P05108-1" ], "evidence": [ { "id": "R-HSA-5580269", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5580269" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-193019", "participant_name": "22b-HCHOL [mitochondrial inner membrane]", "crossref": [ { "id": "C05502", "database": "COMPOUND", "url": "" }, { "id": "1301", "database": "ChEBI", "url": "" }, { "id": "000005759161", "database": "ZINC", "url": "" }, { "id": "C05502", "database": "COMPOUND", "url": "" }, { "id": "1301", "database": "ChEBI", "url": "" }, { 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