{ "uniprot_canonical_ac": "O75208-1", "uniprot_ac": "O75208", "uniprot_id": "COQ9_HUMAN", "mass": { "chemical_mass": 35509.0, "monoisotopic_mass": 35509.0 }, "refseq": { "ac": "NP_064708", "name": "ubiquinone biosynthesis protein COQ9, mitochondrial precursor", "summary": "This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708" }, "gene_names": [ { "name": "COQ9", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75208", "id": "O75208" }, { "name": "C16orf49; COQ10D5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708", "id": "NP_064708" }, { "name": "C16orf49", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75208", "id": "O75208" }, { "name": "COQ9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708", "id": "NP_064708" }, { "name": "HSPC326", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75208", "id": "O75208" }, { "name": "PSEC0129", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75208", "id": "O75208" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75208" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708", "id": "NP_064708" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial; coenzyme Q9 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708", "id": "NP_064708" } ], "function": [ { "annotation": "DDIT3 Directs a Dual Mechanism to Balance Glycolysis and Oxidative Phosphorylation during Glutamine Deprivation.", "evidence": [ { "database": "RefSeq", "id": "NP_064708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708" }, { "database": "PubMed", "id": "34105294", "url": "https://glygen.org/publication/PubMed/34105294" } ] }, { "annotation": "Family with CoQ10 deficiency caused by mutations in the COQ9 gene", "evidence": [ { "database": "RefSeq", "id": "NP_064708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708" }, { "database": "PubMed", "id": "29560582", "url": "https://glygen.org/publication/PubMed/29560582" } ] }, { "annotation": "Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration.", "evidence": [ { "database": "UniProtKB", "id": "H3BPC6", "url": "https://www.uniprot.org/uniprot/H3BPC6#function" }, { "database": "UniProtKB", "id": "RU366063", "url": "https://www.uniprot.org/uniprot/RU366063#function" }, { "database": "UniProtKB", "id": "H3BVA5", "url": "https://www.uniprot.org/uniprot/H3BVA5#function" }, { "database": "UniProtKB", "id": "H3BRC0", "url": "https://www.uniprot.org/uniprot/H3BRC0#function" }, { "database": "UniProtKB", "id": "H3BPY0", "url": "https://www.uniprot.org/uniprot/H3BPY0#function" }, { "database": "UniProtKB", "id": "H3BNT2", "url": "https://www.uniprot.org/uniprot/H3BNT2#function" }, { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208#function" }, { "database": "PubMed", "id": "25339443", "url": "https://glygen.org/publication/PubMed/25339443" }, { "database": "UniProtKB", "id": "H3BSJ5", "url": "https://www.uniprot.org/uniprot/H3BSJ5#function" }, { "database": "UniProtKB", "id": "H3BPW3", "url": "https://www.uniprot.org/uniprot/H3BPW3#function" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_064708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708" }, { "database": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "annotation": "Structure and functionality of a multimeric human COQ7:COQ9 complex.", "evidence": [ { "database": "RefSeq", "id": "NP_064708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708" }, { "database": "PubMed", "id": "36306796", "url": "https://glygen.org/publication/PubMed/36306796" } ] }, { "annotation": "There is a homozygous stop mutation affecting a highly conserved residue of COQ9, leading to the truncation of 75 amino acids.", "evidence": [ { "database": "RefSeq", "id": "NP_064708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708" }, { "database": "PubMed", "id": "19375058", "url": "https://glygen.org/publication/PubMed/19375058" } ] }, { "annotation": "This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_064708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708" } ] } ], "disease": [ { "disease_id": "DOID:0070242", "recommended_name": { "id": "DOID:0070242", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070242", "name": "primary coenzyme Q10 deficiency 5", "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21." }, "synonyms": [ { "id": "DOID:0070242", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070242", "name": "COQ10D5", "description": "" }, { "id": "DOID:0070242", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070242", "name": "coenzyme Q10 deficiency, primary, 5", "description": "" }, { "id": "DOID:0070242", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070242", "name": "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome", "description": "" }, { "id": "MONDO:0013840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013840", "name": "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome", "description": "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound." }, { "id": "MONDO:0013840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013840", "name": "coenzyme Q10 deficiency, primary, type 5", "description": "" }, { "id": "MONDO:0013840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013840", "name": "COQ10D5", "description": "" }, { "id": "MONDO:0013840", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013840", "name": "coenzyme Q10 deficiency, primary, 5", "description": "" }, { "id": "MIM:614654", "resource": "MIM", "url": "https://www.omim.org/entry/614654", "name": "Coenzyme Q10 deficiency, primary, 5", "description": "Coenzyme Q10 deficiency, primary, 5" } ], "evidence": [ { "id": "614654", "database": "MIM", "url": "https://www.omim.org/entry/614654" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 190, "end_pos": 190, "sequence_org": "L", "sequence_mut": "E", "comment": "Impairs interaction with COQ7.", "evidence": [ { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" }, { "database": "PubMed", "id": "25339443", "url": "https://glygen.org/publication/PubMed/25339443" } ] }, { "start_pos": 227, "end_pos": 227, "sequence_org": "M", "sequence_mut": "E", "comment": "Impairs interaction with COQ7.", "evidence": [ { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" }, { "database": "PubMed", "id": "25339443", "url": "https://glygen.org/publication/PubMed/25339443" } ] }, { "start_pos": 237, "end_pos": 237, "sequence_org": "D", "sequence_mut": "K", "comment": "Impairs interaction with COQ7.", "evidence": [ { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" }, { "database": "PubMed", "id": "25339443", "url": "https://glygen.org/publication/PubMed/25339443" } ] }, { "start_pos": 240, "end_pos": 240, "sequence_org": "W", "sequence_mut": "D", "comment": "Abolishes interaction with COQ7.", "evidence": [ { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" }, { "database": "PubMed", "id": "25339443", "url": "https://glygen.org/publication/PubMed/25339443" } ] }, { "start_pos": 240, "end_pos": 240, "sequence_org": "W", "sequence_mut": "K", "comment": "Abolishes interaction with COQ7.", "evidence": [ { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" }, { "database": "PubMed", "id": "25339443", "url": "https://glygen.org/publication/PubMed/25339443" } ] }, { "start_pos": 241, "end_pos": 241, "sequence_org": "Y", "sequence_mut": "D", "comment": "Abolishes interaction with COQ7.", "evidence": [ { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" }, { "database": "PubMed", "id": "25339443", "url": "https://glygen.org/publication/PubMed/25339443" } ] }, { "start_pos": 241, "end_pos": 241, "sequence_org": "Y", "sequence_mut": "K", "comment": "Abolishes interaction with COQ7.", "evidence": [ { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" }, { "database": "PubMed", "id": "25339443", "url": "https://glygen.org/publication/PubMed/25339443" } ] }, { "start_pos": 256, "end_pos": 256, "sequence_org": "L", "sequence_mut": "K", "comment": "Impairs interaction with COQ7.", "evidence": [ { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" }, { "database": "PubMed", "id": "25339443", "url": "https://glygen.org/publication/PubMed/25339443" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088682", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088682" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "62.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000088682", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088682" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088682", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088682" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088682", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088682" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088682", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088682" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088682", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088682" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088682", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088682" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088682", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088682" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088682", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088682" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000088682", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000088682" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75208", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75208" } ], "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, 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"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": "O75208", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75208" } ], "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": 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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": 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"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": "O75208", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75208" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75208" } ], "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 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"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": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75208", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75208" } ], "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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75208", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75208" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75208" } ], "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": [ 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"evidence": [ { "database": "BioXpress", "id": "O75208", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75208" } ], "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": 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"PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75208", "url": "http://purl.obolibrary.org/obo/PR_O75208", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_064708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H3BNT2", "url": "https://www.uniprot.org/uniprot/H3BNT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNT2-1", "url": "https://www.uniprot.org/uniprot/H3BNT2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPC6", "url": "https://www.uniprot.org/uniprot/H3BPC6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPC6-1", "url": "https://www.uniprot.org/uniprot/H3BPC6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPW3", "url": "https://www.uniprot.org/uniprot/H3BPW3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPW3-1", "url": "https://www.uniprot.org/uniprot/H3BPW3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPY0", "url": "https://www.uniprot.org/uniprot/H3BPY0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPY0-1", "url": "https://www.uniprot.org/uniprot/H3BPY0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BRC0", "url": "https://www.uniprot.org/uniprot/H3BRC0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BRC0-1", "url": "https://www.uniprot.org/uniprot/H3BRC0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSJ5", "url": "https://www.uniprot.org/uniprot/H3BSJ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSJ5-1", "url": "https://www.uniprot.org/uniprot/H3BSJ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BVA5", "url": "https://www.uniprot.org/uniprot/H3BVA5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BVA5-1", "url": "https://www.uniprot.org/uniprot/H3BVA5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75208-1", "url": "https://www.uniprot.org/uniprot/O75208-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75208-2", "url": "https://www.uniprot.org/uniprot/O75208-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQQHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEAIAEGAQSLGLSSAAASMFGKDGSELILHFVTQCNTRLTRVLEEEQKLVQLGQAEKRKTDQFLRDAVETRLRMLIPYIEHWPRALSILMLPHNIPSSLSLLTSMVDDMWHYAGDQSTDFNWYTRRAMLAAIYNTTELVMMQDSSPDFEDTWRFLENRVNDAMNMGHTAKQVKSTGEALVQGLMGAAVTLKNLTGLNQRR", "length": 318, "header": "sp|O75208-1|COQ9_HUMAN Isoform 1 of Ubiquinone biosynthesis protein COQ9, mitochondrial OS=Homo sapiens OX=9606 GN=COQ9 PE=1 SV=1 CANONICAL=O75208-1" }, "isoforms": [ { "isoform_ac": "H3BNT2-1", "url": "", "sequence": { "sequence": "MAAAAVSGALGRAGWRLLQLRCLPVSVSVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQQHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEAIAEGAQSLGLSSAAASMFGKDGSELILHFVTQCNTRLTRVLEEEQKLVQLGQAEKRKTDQFLRDAVETRLRMLIPYIEHWPRALSILMLPHNIPSSLSLLTSMVDDMWHYAGDQSTDFNWYTRRAMLAAIYNTTELVMMQDSSPDFEDTWRFLENRVNDAMNMGHTAKQVKSTGEALVQ", "length": 303, "header": "tr|H3BNT2-1|COQ9_HUMAN Computationally mapped isoform of Ubiquinone biosynthesis protein COQ9, mitochondrial OS=Homo sapiens OX=9606 GN=COQ9 PE=1 SV=8 CANONICAL=O75208-1" }, "locus": { "chromosome": "16", "start_pos": 57460080, "end_pos": 57447506, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564655.5", "url": "https://www.ensembl.org/id/ENST00000564655.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454992.1", "url": "https://www.ensembl.org/id/ENSP00000454992.1" } ] } }, { "isoform_ac": "H3BPC6-1", "url": "", "sequence": { "sequence": "MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQQHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEAIAEGAQSLGLSSAAASMFGKDGSELILHFVTQCNTRLTRVLEEEQKLVQLGQAEPSASSCSLTTSRPA", "length": 188, "header": "tr|H3BPC6-1|COQ9_HUMAN Computationally mapped isoform of Ubiquinone biosynthesis protein COQ9, mitochondrial OS=Homo sapiens OX=9606 GN=COQ9 PE=1 SV=1 CANONICAL=O75208-1" }, "locus": { "chromosome": "16", "start_pos": 57458288, "end_pos": 57447506, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564115.5", "url": "https://www.ensembl.org/id/ENST00000564115.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455256.1", "url": "https://www.ensembl.org/id/ENSP00000455256.1" } ] } }, { "isoform_ac": "H3BPW3-1", "url": "", "sequence": { "sequence": "QLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQQHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEV", "length": 102, "header": "tr|H3BPW3-1|H3BPW3_HUMAN Computationally mapped isoform of Ubiquinone biosynthesis protein OS=Homo sapiens OX=9606 GN=COQ9 PE=1 SV=1 CANONICAL=O75208-1" }, "locus": { "chromosome": "16", "start_pos": 57461174, "end_pos": 57447560, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563166.1", "url": "https://www.ensembl.org/id/ENST00000563166.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000455495.1", "url": "https://www.ensembl.org/id/ENSP00000455495.1" } ] } }, { "isoform_ac": "H3BPY0-1", "url": "", "sequence": { "sequence": "MFGKDGSELILHFVTQCNTRLTRVLEEEQKLVQLGQAEKRKTDQFLRDAVETRLRMLIPYIEHWPRALSILMLPHNIPSSLSLLTSMVD", "length": 89, "header": "tr|H3BPY0-1|COQ9_HUMAN Computationally mapped isoform of Ubiquinone biosynthesis protein COQ9, mitochondrial OS=Homo sapiens OX=9606 GN=COQ9 PE=1 SV=1 CANONICAL=O75208-1" }, "locus": { "chromosome": "16", "start_pos": 57458314, "end_pos": 57456534, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563391.1", "url": "https://www.ensembl.org/id/ENST00000563391.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000455516.1", "url": "https://www.ensembl.org/id/ENSP00000455516.1" } ] } }, { "isoform_ac": "H3BRC0-1", "url": "", "sequence": { "sequence": "MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQQHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEAIAEGAQFNWYTRRAMLAAIYNTTELVMMQDSSPDFEDTWRFLENRVNDAMNMGHTAKQVKSTGEALVQGLMGAAVTLKNLTGLNQRR", "length": 207, "header": "tr|H3BRC0-1|COQ9_HUMAN Computationally mapped isoform of Ubiquinone biosynthesis protein COQ9, mitochondrial OS=Homo sapiens OX=9606 GN=COQ9 PE=1 SV=1 CANONICAL=O75208-1" }, "locus": { "chromosome": "16", "start_pos": 57460621, "end_pos": 57447506, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567933.5", "url": "https://www.ensembl.org/id/ENST00000567933.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456174.1", "url": "https://www.ensembl.org/id/ENSP00000456174.1" } ] } }, { "isoform_ac": "H3BSJ5-1", "url": "", "sequence": { "sequence": "MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQQHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEAIAEGAQSLGLSSAAASMFGKDGSELILHFVTQCNTRLTRVLEEEQKLALSILMLPHNIPSSLSLLTSMVDDMWHYAGDQSTDFNWYTRRAMLAAIYNTTELVMMQDSSPDFEDTWRFLENRVNDAMNMGHTAKQVKSTGEALVQGLMGAAVTLKNLTGLNQRR", "length": 283, "header": "tr|H3BSJ5-1|H3BSJ5_HUMAN Computationally mapped isoform of Ubiquinone biosynthesis protein OS=Homo sapiens OX=9606 GN=COQ9 PE=1 SV=1 CANONICAL=O75208-1" }, "locus": { "chromosome": "16", "start_pos": 57460621, "end_pos": 57447506, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567072.5", "url": "https://www.ensembl.org/id/ENST00000567072.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456728.1", "url": "https://www.ensembl.org/id/ENSP00000456728.1" } ] } }, { "isoform_ac": "H3BVA5-1", "url": "", "sequence": { "sequence": "MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQQHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEAIAEGAQALSILMLPHNIPSSLSLLTSMVDDMWHYAGDQSTDFNWYTRRAMLA", "length": 172, "header": "tr|H3BVA5-1|COQ9_HUMAN Computationally mapped isoform of Ubiquinone biosynthesis protein COQ9, mitochondrial OS=Homo sapiens OX=9606 GN=COQ9 PE=1 SV=1 CANONICAL=O75208-1" }, "locus": { "chromosome": "16", "start_pos": 57459597, "end_pos": 57447506, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565964.5", "url": "https://www.ensembl.org/id/ENST00000565964.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000458023.1", "url": "https://www.ensembl.org/id/ENSP00000458023.1" } ] } }, { "isoform_ac": "O75208-1", "url": "", "sequence": { "sequence": "MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQQHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEAIAEGAQSLGLSSAAASMFGKDGSELILHFVTQCNTRLTRVLEEEQKLVQLGQAEKRKTDQFLRDAVETRLRMLIPYIEHWPRALSILMLPHNIPSSLSLLTSMVDDMWHYAGDQSTDFNWYTRRAMLAAIYNTTELVMMQDSSPDFEDTWRFLENRVNDAMNMGHTAKQVKSTGEALVQGLMGAAVTLKNLTGLNQRR", "length": 318, "header": "sp|O75208-1|COQ9_HUMAN Isoform 1 of Ubiquinone biosynthesis protein COQ9, mitochondrial OS=Homo sapiens OX=9606 GN=COQ9 PE=1 SV=1 CANONICAL=O75208-1" }, "locus": { "chromosome": "16", "start_pos": 57460621, "end_pos": 57447506, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262507.11", "url": "https://www.ensembl.org/id/ENST00000262507.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000262507.5", "url": "https://www.ensembl.org/id/ENSP00000262507.5" } ] } }, { "isoform_ac": "O75208-2", "url": "", "sequence": { "sequence": "MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQQHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEAIAEGAQVCIGEGGAT", "length": 135, "header": "sp|O75208-2|COQ9_HUMAN Isoform 2 of Ubiquinone biosynthesis protein COQ9, mitochondrial OS=Homo sapiens OX=9606 GN=COQ9 PE=1 SV=1 CANONICAL=O75208-1" }, "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": "O75208", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75208" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 293, "end_pos": 293, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75208", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75208" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr293" }, { "start_pos": 307, "end_pos": 307, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75208", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75208" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr307" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging.", "journal": "Mammalian genome : official journal of the International Mammalian Genome Society", "date": "1999", "authors": "Vajo Z, King LM, Jonassen T, Wilkin DJ, Ho N, Munnich A, Clarke CF, Francomano CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "10501970", "url": "https://glygen.org/publication/PubMed/10501970" } ] }, { "title": "Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Jonassen T, Clarke CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "10777520", "url": "https://glygen.org/publication/PubMed/10777520" } ] }, { "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": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "The Saccharomyces cerevisiae COQ6 gene encodes a mitochondrial flavin-dependent monooxygenase required for coenzyme Q biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Gin P, Hsu AY, Rothman SC, Jonassen T, Lee PT, Tzagoloff A, Clarke CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "12721307", "url": "https://glygen.org/publication/PubMed/12721307" } ] }, { "title": "Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ.", "journal": "The Biochemical journal", "date": "2004", "authors": "Forsgren M, Attersand A, Lake S, Grunler J, Swiezewska E, Dallner G, Climent I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "15153069", "url": "https://glygen.org/publication/PubMed/15153069" } ] }, { "title": "Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans.", "journal": "The FEBS journal", "date": "2005", "authors": "Saiki R, Nagata A, Kainou T, Matsuda H, Kawamukai M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "16262699", "url": "https://glygen.org/publication/PubMed/16262699" } ] }, { "title": "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.", "journal": "DNA Res.", "date": "2005", "authors": "Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T", "evidence": [ { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" } ], "reference": [ { "type": "PubMed", "id": "16303743", "url": "https://glygen.org/publication/PubMed/16303743" } ] }, { "title": "Complementation of Saccharomyces cerevisiae coq7 mutants by mitochondrial targeting of the Escherichia coli UbiF polypeptide: two functions of yeast Coq7 polypeptide in coenzyme Q biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Tran UC, Marbois B, Gin P, Gulmezian M, Jonassen T, Clarke CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "16624818", "url": "https://glygen.org/publication/PubMed/16624818" } ] }, { "title": "Investigation of coenzyme Q biosynthesis in human fibroblast and HepG2 cells.", "journal": "Journal of biochemical and biophysical methods", "date": "2008", "authors": "Tekle M, Turunen M, Dallner G, Chojnacki T, Swiezewska E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "17916383", "url": "https://glygen.org/publication/PubMed/17916383" } ] }, { "title": "A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.", "journal": "Am. J. Hum. Genet.", "date": "2009", "authors": "Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, Lopez LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S", "evidence": [ { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" }, { "database": "RefSeq", "id": "NP_064708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708" } ], "reference": [ { "type": "PubMed", "id": "19375058", "url": "https://glygen.org/publication/PubMed/19375058" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75208-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75208-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.", "journal": "PloS one", "date": "2010", "authors": "Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ", "evidence": [ { "database": "RefSeq", "id": "NP_064708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708" } ], "reference": [ { "type": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "title": "COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.", "journal": "The Journal of clinical investigation", "date": "2011", "authors": "Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rotig A, Nurnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Muller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocana C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nurnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "21540551", "url": "https://glygen.org/publication/PubMed/21540551" } ] }, { "title": "Coenzyme Q biosynthesis: Coq6 is required for the C5-hydroxylation reaction and substrate analogs rescue Coq6 deficiency.", "journal": "Chemistry & biology", "date": "2011", "authors": "Ozeir M, Muhlenhoff U, Webert H, Lill R, Fontecave M, Pierrel F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "21944752", "url": "https://glygen.org/publication/PubMed/21944752" } ] }, { "title": "Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Lohman DC, Forouhar F, Beebe ET, Stefely MS, Minogue CE, Ulbrich A, Stefely JA, Sukumar S, Luna-Sanchez M, Jochem A, Lew S, Seetharaman J, Xiao R, Wang H, Westphall MS, Wrobel RL, Everett JK, Mitchell JC, Lopez LC, Coon JJ, Tong L, Pagliarini DJ", "evidence": [ { "database": "UniProtKB", "id": "O75208", "url": "https://www.uniprot.org/uniprot/O75208" }, { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "25339443", "url": "https://glygen.org/publication/PubMed/25339443" } ] }, { "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": "O75208", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75208" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.", "journal": "Journal of inherited metabolic disease", "date": "2018", "authors": "Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV, Rodenburg RJ, Boycott KM, Penney LS", "evidence": [ 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Peraro Matteo, Frost Adam, Pagliarini David J", "evidence": [ { "database": "RefSeq", "id": "NP_064708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708" } ], "reference": [ { "type": "PubMed", "id": "36306796", "url": "https://glygen.org/publication/PubMed/36306796" } ] }, { "title": "The COQ7 gene encodes a protein in saccharomyces cerevisiae necessary for ubiquinone biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Marbois BN, Clarke CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "8621692", "url": "https://glygen.org/publication/PubMed/8621692" } ] }, { "title": "Characterization of the COQ5 gene from Saccharomyces cerevisiae. Evidence for a C-methyltransferase in ubiquinone biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Barkovich RJ, Shtanko A, Shepherd JA, Lee PT, Myles DC, Tzagoloff A, Clarke CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142789", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789" } ], "reference": [ { "type": "PubMed", "id": "9083049", "url": "https://glygen.org/publication/PubMed/9083049" } ] } ], "pathway": [ { "id": "hsa:57017", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57017", "resource": "KEGG Pathway" }, { "id": "R-HSA-2142789", "name": "Ubiquinol biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142789", "resource": "Reactome", "description": "Ubiquinol biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "Q68FT1-1", "protein_name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "gene_name": "Coq9", "tax_id": 10116, "organism": "Rattus 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