{ "uniprot_canonical_ac": "O95299-1", "uniprot_ac": "O95299", "uniprot_id": "NDUAA_HUMAN", "mass": { "chemical_mass": 40751.0, "monoisotopic_mass": 40751.0 }, "refseq": { "ac": "NP_004535", "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 1 precursor", "summary": "The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004535" }, "gene_names": [ { "name": "NDUFA10", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95299", "id": "O95299" }, { "name": "CI-42k; CI-42KD; MC1DN22", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004535", "id": "NP_004535" }, { "name": "NDUFA10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004535", "id": "NP_004535" }, { "name": "hCG_20530", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95299", "id": "O95299" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95299" }, { "name": "CI-42kD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95299" }, { "name": "Complex I-42kD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95299" }, { "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004535", "id": "NP_004535" }, { "name": "NADH-ubiquinone oxidoreductase 42 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95299" }, { "name": "complex I 42kDa subunit; NADH-ubiquinone oxidoreductase 42 kDa subunit; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004535", "id": "NP_004535" } ], "function": [ { "annotation": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.", "evidence": [ { "database": "UniProtKB", "id": "A0A7I2V2X3", "url": "https://www.uniprot.org/uniprot/A0A7I2V2X3#function" }, { "database": "UniProtKB", "id": "ARBA00003195", "url": "https://www.uniprot.org/uniprot/ARBA00003195#function" }, { "database": "UniProtKB", "id": "PIRNR000543", "url": "https://www.uniprot.org/uniprot/PIRNR000543#function" }, { "database": "UniProtKB", "id": "A0A7I2V4N8", "url": "https://www.uniprot.org/uniprot/A0A7I2V4N8#function" }, { "database": "UniProtKB", "id": "H7C1Y7", "url": "https://www.uniprot.org/uniprot/H7C1Y7#function" }, { "database": "UniProtKB", "id": "A0A7I2V327", "url": "https://www.uniprot.org/uniprot/A0A7I2V327#function" }, { "database": "UniProtKB", "id": "A0A7I2YQU0", "url": "https://www.uniprot.org/uniprot/A0A7I2YQU0#function" }, { "database": "UniProtKB", "id": "A0A7I2V2F6", "url": "https://www.uniprot.org/uniprot/A0A7I2V2F6#function" }, { "database": "UniProtKB", "id": "A0A087WXC5", "url": "https://www.uniprot.org/uniprot/A0A087WXC5#function" }, { "database": "UniProtKB", "id": "A0A7I2V2N6", "url": "https://www.uniprot.org/uniprot/A0A7I2V2N6#function" }, { "database": "UniProtKB", "id": "A0A7I2V5U7", "url": "https://www.uniprot.org/uniprot/A0A7I2V5U7#function" }, { "database": "UniProtKB", "id": "H7C2X4", "url": "https://www.uniprot.org/uniprot/H7C2X4#function" }, { "database": "UniProtKB", "id": "A0A7I2V419", "url": "https://www.uniprot.org/uniprot/A0A7I2V419#function" }, { "database": "UniProtKB", "id": "A0A7I2V5L0", "url": "https://www.uniprot.org/uniprot/A0A7I2V5L0#function" }, { "database": "UniProtKB", "id": "C9J6X0", "url": "https://www.uniprot.org/uniprot/C9J6X0#function" }, { "database": "UniProtKB", "id": "O95299", "url": "https://www.uniprot.org/uniprot/O95299#function" }, { "database": "PubMed", "id": "27626371", "url": "https://glygen.org/publication/PubMed/27626371" }, { "database": "UniProtKB", "id": "A0A7I2V5B2", "url": "https://www.uniprot.org/uniprot/A0A7I2V5B2#function" }, { "database": "UniProtKB", "id": "E7ESZ7", "url": "https://www.uniprot.org/uniprot/E7ESZ7#function" }, { "database": "UniProtKB", "id": "A0A7I2V438", "url": "https://www.uniprot.org/uniprot/A0A7I2V438#function" }, { "database": "UniProtKB", "id": "A0A7I2V594", "url": "https://www.uniprot.org/uniprot/A0A7I2V594#function" }, { "database": "UniProtKB", "id": "A0A7I2V3H5", "url": "https://www.uniprot.org/uniprot/A0A7I2V3H5#function" }, { "database": "UniProtKB", "id": "A0A7I2V2W9", "url": "https://www.uniprot.org/uniprot/A0A7I2V2W9#function" }, { "database": "UniProtKB", "id": "A0A7I2V458", "url": "https://www.uniprot.org/uniprot/A0A7I2V458#function" } ] }, { "annotation": "An Exploration of the Coherent Effects between METTL3 and NDUFA10 on Alzheimer's Disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004535" }, { "database": "PubMed", "id": "37373264", "url": "https://glygen.org/publication/PubMed/37373264" } ] }, { "annotation": "Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004535" }, { "database": "PubMed", "id": "34124242", "url": "https://glygen.org/publication/PubMed/34124242" } ] }, { "annotation": "Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004535" }, { "database": "PubMed", "id": "35739187", "url": "https://glygen.org/publication/PubMed/35739187" } ] }, { "annotation": "The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_004535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004535" } ] } ], "disease": [ { "disease_id": "DOID:0112069", "recommended_name": { "id": "DOID:0112069", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112069", "name": "nuclear type mitochondrial complex I deficiency 22", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3." }, "synonyms": [ { "id": "DOID:0112069", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112069", "name": "MC1DN22", "description": "" }, { "id": "MONDO:0032626", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032626", "name": "mitochondrial complex 1 deficiency, nuclear type 22", "description": "" }, { "id": "MONDO:0032626", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032626", "name": "MC1DN22", "description": "" }, { "id": "MONDO:0032626", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032626", "name": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22", "description": "" }, { "id": "MIM:618243", "resource": "MIM", "url": "https://www.omim.org/entry/618243", "name": "Mitochondrial complex I deficiency, nuclear type 22", "description": "Mitochondrial complex I deficiency, nuclear type 22" } ], "evidence": [ { "id": "618243", "database": "MIM", "url": "https://www.omim.org/entry/618243" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "91.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "96.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "88.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130414" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95299", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95299" } ], "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", 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}, { "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": "O95299", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95299" } ], "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", 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"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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95299", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95299" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"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": "O95299", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95299" } ], "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/O95299" } ], "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": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95299", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95299" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95299", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95299" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95299", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95299" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95299", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95299" } ], "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": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95299", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95299" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95299", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95299" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"http://purl.obolibrary.org/obo/PR_O95299", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6799198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004535", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WXC5", "url": "https://www.uniprot.org/uniprot/A0A087WXC5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WXC5-1", "url": "https://www.uniprot.org/uniprot/A0A087WXC5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2F6", "url": "https://www.uniprot.org/uniprot/A0A7I2V2F6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2F6-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V2F6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2I6", "url": "https://www.uniprot.org/uniprot/A0A7I2V2I6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2I6-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V2I6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2J5", "url": "https://www.uniprot.org/uniprot/A0A7I2V2J5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2J5-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V2J5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2N6", "url": "https://www.uniprot.org/uniprot/A0A7I2V2N6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2N6-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V2N6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2Q2", "url": "https://www.uniprot.org/uniprot/A0A7I2V2Q2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2Q2-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V2Q2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2W9", "url": "https://www.uniprot.org/uniprot/A0A7I2V2W9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2W9-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V2W9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2X3", "url": "https://www.uniprot.org/uniprot/A0A7I2V2X3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V2X3-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V2X3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V327", "url": "https://www.uniprot.org/uniprot/A0A7I2V327", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V327-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V327-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3D4", "url": "https://www.uniprot.org/uniprot/A0A7I2V3D4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3D4-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V3D4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3H5", "url": "https://www.uniprot.org/uniprot/A0A7I2V3H5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V3H5-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V3H5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V419", "url": "https://www.uniprot.org/uniprot/A0A7I2V419", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V419-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V419-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V438", "url": "https://www.uniprot.org/uniprot/A0A7I2V438", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V438-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V438-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V458", "url": "https://www.uniprot.org/uniprot/A0A7I2V458", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V458-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V458-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4N8", "url": "https://www.uniprot.org/uniprot/A0A7I2V4N8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V4N8-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V4N8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V594", "url": "https://www.uniprot.org/uniprot/A0A7I2V594", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V594-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V594-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5B2", "url": "https://www.uniprot.org/uniprot/A0A7I2V5B2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5B2-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V5B2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5L0", "url": "https://www.uniprot.org/uniprot/A0A7I2V5L0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5L0-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V5L0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5U7", "url": "https://www.uniprot.org/uniprot/A0A7I2V5U7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5U7-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V5U7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQU0", "url": "https://www.uniprot.org/uniprot/A0A7I2YQU0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQU0-1", "url": "https://www.uniprot.org/uniprot/A0A7I2YQU0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J6X0", "url": "https://www.uniprot.org/uniprot/C9J6X0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J6X0-1", "url": "https://www.uniprot.org/uniprot/C9J6X0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ESZ7", "url": "https://www.uniprot.org/uniprot/E7ESZ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ESZ7-1", "url": "https://www.uniprot.org/uniprot/E7ESZ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEH0", "url": "https://www.uniprot.org/uniprot/F8WEH0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WEH0-1", "url": "https://www.uniprot.org/uniprot/F8WEH0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1Y7", "url": "https://www.uniprot.org/uniprot/H7C1Y7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1Y7-1", "url": "https://www.uniprot.org/uniprot/H7C1Y7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2W5", "url": "https://www.uniprot.org/uniprot/H7C2W5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2W5-1", "url": "https://www.uniprot.org/uniprot/H7C2W5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2X4", "url": "https://www.uniprot.org/uniprot/H7C2X4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2X4-1", "url": "https://www.uniprot.org/uniprot/H7C2X4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95299", "url": "https://www.uniprot.org/uniprot/O95299", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95299-1", "url": "https://www.uniprot.org/uniprot/O95299-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95299-2", "url": "https://www.uniprot.org/uniprot/O95299-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N1B9", "url": "https://www.uniprot.org/uniprot/Q8N1B9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N1B9-1", "url": "https://www.uniprot.org/uniprot/Q8N1B9-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELPGRKYSPGYNTEVGDKWIWLK", "length": 355, "header": "sp|O95299-1|NDUAA_HUMAN Isoform 1 of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "isoforms": [ { "isoform_ac": "A0A087WXC5-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDVETAGLFISFFLPLSPPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELPGRKYSPGYNTEVGDKWIWLK", "length": 371, "header": "tr|A0A087WXC5-1|NDUAA_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=2 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239961121, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620965.5", "url": "https://www.ensembl.org/id/ENST00000620965.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000480897.2", "url": "https://www.ensembl.org/id/ENSP00000480897.2" } ] } }, { "isoform_ac": "A0A7I2V2F6-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDVMQFSIKGQASLF", "length": 236, "header": "tr|A0A7I2V2F6-1|A0A7I2V2F6_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 240014700, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678468.1", "url": "https://www.ensembl.org/id/ENST00000678468.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503925.1", "url": "https://www.ensembl.org/id/ENSP00000503925.1" } ] } }, { "isoform_ac": "A0A7I2V2I6-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQLKNVRFYNILQGKLKIQKRW", "length": 202, "header": "tr|A0A7I2V2I6-1|A0A7I2V2I6_HUMAN Computationally mapped isoform of NADH:ubiquinone oxidoreductase subunit A10 OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 240005292, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677114.1", "url": "https://www.ensembl.org/id/ENST00000677114.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504818.1", "url": "https://www.ensembl.org/id/ENSP00000504818.1" } ] } }, { "isoform_ac": "A0A7I2V2J5-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLASEIEPRMVLTHRWVYS", "length": 98, "header": "tr|A0A7I2V2J5-1|A0A7I2V2J5_HUMAN Computationally mapped isoform of NADH:ubiquinone oxidoreductase subunit A10 OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 240021811, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678562.1", "url": "https://www.ensembl.org/id/ENST00000678562.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502954.1", "url": "https://www.ensembl.org/id/ENSP00000502954.1" } ] } }, { "isoform_ac": "A0A7I2V2N6-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFREKERSWRRIRMLTRAAGNSLAGWTKAWKDSGIGRSGTRRSGVEAARGPDGVT", "length": 384, "header": "tr|A0A7I2V2N6-1|NDUAA_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239912838, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679183.1", "url": "https://www.ensembl.org/id/ENST00000679183.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503016.1", "url": "https://www.ensembl.org/id/ENSP00000503016.1" } ] } }, { "isoform_ac": "A0A7I2V2Q2-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVASSTFLKRGFIIQTVPQEMGSPSPPTIMATVVWRNFTMIREAMMATVTACSPGCTAVACCSTQMPWSTC", "length": 94, "header": "tr|A0A7I2V2Q2-1|A0A7I2V2Q2_HUMAN Computationally mapped isoform of NADH:ubiquinone oxidoreductase subunit A10 OS=Homo sapiens OX=9606 GN=NDUFA10 PE=4 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 240021206, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678832.1", "url": "https://www.ensembl.org/id/ENST00000678832.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502992.1", "url": "https://www.ensembl.org/id/ENSP00000502992.1" } ] } }, { "isoform_ac": "A0A7I2V2W9-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFREFG", "length": 335, "header": "tr|A0A7I2V2W9-1|A0A7I2V2W9_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239987573, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677490.1", "url": "https://www.ensembl.org/id/ENST00000677490.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503255.1", "url": "https://www.ensembl.org/id/ENSP00000503255.1" } ] } }, { "isoform_ac": "A0A7I2V2X3-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFREAQQLPDKGTRG", "length": 344, "header": "tr|A0A7I2V2X3-1|NDUAA_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239950986, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677407.1", "url": "https://www.ensembl.org/id/ENST00000677407.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503141.1", "url": "https://www.ensembl.org/id/ENSP00000503141.1" } ] } }, { "isoform_ac": "A0A7I2V327-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFREDPSDGLGPTQITQMISQSPAAEALLPAAGPQVQPWVQHRGGRQVDLAEVNGPPSAPAASQ", "length": 393, "header": "tr|A0A7I2V327-1|A0A7I2V327_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239961086, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677567.1", "url": "https://www.ensembl.org/id/ENST00000677567.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503217.1", "url": "https://www.ensembl.org/id/ENSP00000503217.1" } ] } }, { "isoform_ac": "A0A7I2V3D4-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQYWGGWSQWKAGIWELRGSTVD", "length": 203, "header": "tr|A0A7I2V3D4-1|NDUAA_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 240017844, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677979.1", "url": "https://www.ensembl.org/id/ENST00000677979.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503341.1", "url": "https://www.ensembl.org/id/ENSP00000503341.1" } ] } }, { "isoform_ac": "A0A7I2V3H5-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELPGRKYSPGYNTEVGDKWIWLK", "length": 297, "header": "tr|A0A7I2V3H5-1|A0A7I2V3H5_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239961121, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677294.1", "url": "https://www.ensembl.org/id/ENST00000677294.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503461.1", "url": "https://www.ensembl.org/id/ENSP00000503461.1" } ] } }, { "isoform_ac": "A0A7I2V419-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFREVRLWKWRKLASG", "length": 345, "header": "tr|A0A7I2V419-1|A0A7I2V419_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239990038, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678737.1", "url": "https://www.ensembl.org/id/ENST00000678737.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503770.1", "url": "https://www.ensembl.org/id/ENSP00000503770.1" } ] } }, { "isoform_ac": "A0A7I2V438-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLCRAASTALGTTPRWETSGSG", "length": 317, "header": "tr|A0A7I2V438-1|NDUAA_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239961126, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679158.1", "url": "https://www.ensembl.org/id/ENST00000679158.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503837.1", "url": "https://www.ensembl.org/id/ENSP00000503837.1" } ] } }, { "isoform_ac": "A0A7I2V458-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFREAAIIPT", "length": 339, "header": "tr|A0A7I2V458-1|A0A7I2V458_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239988595, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677263.1", "url": "https://www.ensembl.org/id/ENST00000677263.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503790.1", "url": "https://www.ensembl.org/id/ENSP00000503790.1" } ] } }, { "isoform_ac": "A0A7I2V4N8-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELMKSSDDSPRAEMFFWKVLHQAYYLDRRTLCSSAVMSVSLLSDVTSGIFLLFVCK", "length": 388, "header": "tr|A0A7I2V4N8-1|A0A7I2V4N8_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239989732, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678289.1", "url": "https://www.ensembl.org/id/ENST00000678289.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504063.1", "url": "https://www.ensembl.org/id/ENSP00000504063.1" } ] } }, { "isoform_ac": "A0A7I2V594-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELPGRKYSPGYNTEVGDKWIWLK", "length": 354, "header": "tr|A0A7I2V594-1|A0A7I2V594_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239961121, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678455.1", "url": "https://www.ensembl.org/id/ENST00000678455.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504395.1", "url": "https://www.ensembl.org/id/ENSP00000504395.1" } ] } }, { "isoform_ac": "A0A7I2V5B2-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFREKPQEEVRRCPDFLISEQYMRSSHESSYN", "length": 361, "header": "tr|A0A7I2V5B2-1|A0A7I2V5B2_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239958954, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676491.1", "url": "https://www.ensembl.org/id/ENST00000676491.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504528.1", "url": "https://www.ensembl.org/id/ENSP00000504528.1" } ] } }, { "isoform_ac": "A0A7I2V5L0-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLL", "length": 297, "header": "tr|A0A7I2V5L0-1|A0A7I2V5L0_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 240000387, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677764.1", "url": "https://www.ensembl.org/id/ENST00000677764.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504547.1", "url": "https://www.ensembl.org/id/ENSP00000504547.1" } ] } }, { "isoform_ac": "A0A7I2V5U7-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFREVPSAGICASPPCSPPGQLMQRQRGD", "length": 358, "header": "tr|A0A7I2V5U7-1|NDUAA_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239938636, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676782.1", "url": "https://www.ensembl.org/id/ENST00000676782.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504717.1", "url": "https://www.ensembl.org/id/ENSP00000504717.1" } ] } }, { "isoform_ac": "A0A7I2YQU0-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELPGRKYSPGYNTEVGDKWIWLK", "length": 321, "header": "tr|A0A7I2YQU0-1|A0A7I2YQU0_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239961121, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678914.1", "url": "https://www.ensembl.org/id/ENST00000678914.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504515.1", "url": "https://www.ensembl.org/id/ENSP00000504515.1" } ] } }, { "isoform_ac": "C9J6X0-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQLKNVRFYNILQGKLKIQKRVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELPGRKYS", "length": 244, "header": "tr|C9J6X0-1|C9J6X0_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=8 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239961166, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443626.5", "url": "https://www.ensembl.org/id/ENST00000443626.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000411527.1", "url": "https://www.ensembl.org/id/ENSP00000411527.1" } ] } }, { "isoform_ac": "E7ESZ7-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELGIPYPQRAVQSTREGPEVLLTGLWRWEDLLIGLQLPGRKYSPGYNTEVGDKWIWLK", "length": 390, "header": "tr|E7ESZ7-1|NDUAA_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239961121, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404554.5", "url": "https://www.ensembl.org/id/ENST00000404554.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385697.1", "url": "https://www.ensembl.org/id/ENSP00000385697.1" } ] } }, { "isoform_ac": "F8WEH0-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVASSTFLKRGFIIQTVPQEMGSPSPPTIMATVVWRNFTMIREAMMATVTACSPGCTAVACCSTQMPWSTC", "length": 87, "header": "tr|F8WEH0-1|NDUAA_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=2 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 240021206, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414580.2", "url": "https://www.ensembl.org/id/ENST00000414580.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000388413.2", "url": "https://www.ensembl.org/id/ENSP00000388413.2" } ] } }, { "isoform_ac": "H7C1Y7-1", "url": "", "sequence": { "sequence": 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"sequence": "DIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFREVPADQEHRWVSLLSSPLGSLFSEWSVCGEDS", "length": 129, "header": "tr|H7C2W5-1|NDUAA_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240011660, "end_pos": 239895222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000419408.5", "url": "https://www.ensembl.org/id/ENST00000419408.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408055.1", "url": "https://www.ensembl.org/id/ENSP00000408055.1" } ] } }, { "isoform_ac": "H7C2X4-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFREFSLFNGRKPDAVKILCSLLEADRSLLEADRSLLEADRVQDSC", "length": 375, "header": "tr|H7C2X4-1|H7C2X4_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=2 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239973536, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448880.6", "url": "https://www.ensembl.org/id/ENST00000448880.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000408224.2", "url": "https://www.ensembl.org/id/ENSP00000408224.2" } ] } }, { "isoform_ac": "O95299-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELPGRKYSPGYNTEVGDKWIWLK", "length": 355, "header": "sp|O95299-1|NDUAA_HUMAN Isoform 1 of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239961121, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678158.1", "url": "https://www.ensembl.org/id/ENST00000678158.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504765.1", "url": "https://www.ensembl.org/id/ENSP00000504765.1" } ] } }, { "isoform_ac": "O95299-2", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCESALQTHFWTGVAGASGKLESGSSEEVLLINERGGRSKPGVDHYNEVKSVTICDYLPPHLVIYIDVPVPEPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRERLDWTVCFGEESTEVKHQGHLLSVQPGTVALTVGSWLRSCLLGLHWKLLFLFPESPMHTTAFMFLC", "length": 429, "header": "sp|O95299-2|NDUAA_HUMAN Isoform 2 of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 239983520, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000307300.8", "url": "https://www.ensembl.org/id/ENST00000307300.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000302321.4", "url": "https://www.ensembl.org/id/ENSP00000302321.4" } ] } }, { "isoform_ac": "Q8N1B9-1", "url": "", "sequence": { "sequence": "MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCESALQTHFWVCGATLQGL", "length": 201, "header": "tr|Q8N1B9-1|Q8N1B9_HUMAN Computationally mapped isoform of NADH dehydrogenase (Ubiquinone) 1 alpha subcomplex, 10, 42kDa, isoform CRA_c OS=Homo sapiens OX=9606 GN=NDUFA10 PE=1 SV=1 CANONICAL=O95299-1" }, "locus": { "chromosome": "2", "start_pos": 240025301, "end_pos": 240018497, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407129.3", "url": "https://www.ensembl.org/id/ENST00000407129.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000383975.3", "url": "https://www.ensembl.org/id/ENSP00000383975.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 250, "end_pos": 250, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PINK1", "evidence": [ { "database": "UniProtKB", "id": "O95299", "url": "https://www.uniprot.org/uniprot/O95299" } ], "site_lbl": "Ser250" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Defects in mitochondrial beta-oxidation of fatty acids.", "journal": "Current opinion in lipidology", "date": "1999", "authors": "Wood PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "10327278", "url": "https://glygen.org/publication/PubMed/10327278" } ] }, { "title": "Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.", "journal": "Annals of neurology", "date": "2001", "authors": "Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6799198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198" } ], "reference": [ { "type": "PubMed", "id": "11220739", "url": "https://glygen.org/publication/PubMed/11220739" } ] }, { "title": "Human NADH:ubiquinone oxidoreductase.", "journal": "Journal of bioenergetics and biomembranes", "date": "2001", "authors": "Smeitink J, Sengers R, Trijbels F, van den Heuvel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "11695836", "url": "https://glygen.org/publication/PubMed/11695836" } ] }, { "title": "The energy-transducing NADH: quinone oxidoreductase, complex I.", "journal": "Molecular aspects of medicine", "date": "2002", "authors": "Yano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12231006", "url": "https://glygen.org/publication/PubMed/12231006" } ] }, { "title": "The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF, Ghosh SS, Capaldi RA", "evidence": [ { "database": "UniProtKB", "id": "O95299", "url": "https://www.uniprot.org/uniprot/O95299" } ], "reference": [ { "type": "PubMed", "id": "12611891", "url": "https://glygen.org/publication/PubMed/12611891" } ] }, { "title": "The nuclear encoded subunits of complex I from bovine heart mitochondria.", "journal": "Biochimica et biophysica acta", "date": "2003", "authors": "Hirst J, Carroll J, Fearnley IM, Shannon RJ, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12837546", "url": "https://glygen.org/publication/PubMed/12837546" } ] }, { "title": "Saturation kinetics of coenzyme Q in NADH and succinate oxidation in beef heart mitochondria.", "journal": "FEBS letters", "date": "1992", "authors": "Estornell E, Fato R, Castelluccio C, Cavazzoni M, Parenti Castelli G, Lenaz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "1327877", "url": "https://glygen.org/publication/PubMed/1327877" } ] }, { "title": "The gross structure of the respiratory complex I: a Lego System.", "journal": "Biochimica et biophysica acta", "date": "2004", "authors": "Friedrich T, Bottcher B", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "14741580", "url": "https://glygen.org/publication/PubMed/14741580" } ] }, { "title": "Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin.", "journal": "The Biochemical journal", "date": "2004", "authors": "Bourges I, Ramus C, Mousson de Camaret B, Beugnot R, Remacle C, Cardol P, Hofhaus G, Issartel JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "15250827", "url": "https://glygen.org/publication/PubMed/15250827" } ] }, { "title": "The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Barros MH, Johnson A, Gin P, Marbois BN, Clarke CF, Tzagoloff A", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "16230336", "url": "https://glygen.org/publication/PubMed/16230336" } ] }, { "title": "Possible molecular mechanisms of the protonmotive function of cytochrome systems.", "journal": "Journal of theoretical biology", "date": "1976", "authors": "Mitchell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "186667", "url": "https://glygen.org/publication/PubMed/186667" } ] }, { "title": "Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Sheftel AD, Stehling O, Pierik AJ, Netz DJ, Kerscher S, Elsasser HP, Wittig I, Balk J, Brandt U, Lill R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6799198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198" } ], "reference": [ { "type": "PubMed", "id": "19752196", "url": "https://glygen.org/publication/PubMed/19752196" } ] }, { "title": "MidA is a putative methyltransferase that is required for mitochondrial complex I function.", "journal": "Journal of cell science", "date": "2010", "authors": "Carilla-Latorre S, Gallardo ME, Annesley SJ, Calvo-Garrido J, Grana O, Accari SL, Smith PK, Valencia A, Garesse R, Fisher PR, Escalante R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6799198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198" } ], "reference": [ { "type": "PubMed", "id": "20406883", "url": "https://glygen.org/publication/PubMed/20406883" } ] }, { "title": "Assembly factors of human mitochondrial complex I and their defects in disease.", "journal": "IUBMB life", "date": "2010", "authors": "Mckenzie M, Ryan MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6799198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198" } ], "reference": [ { "type": "PubMed", "id": "20552642", "url": "https://glygen.org/publication/PubMed/20552642" } ] }, { "title": "NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.", "journal": "European journal of human genetics : EJHG", "date": "2011", "authors": "Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP", "evidence": [ { "database": "UniProtKB", "id": "O95299", "url": "https://www.uniprot.org/uniprot/O95299" } ], "reference": [ { "type": "PubMed", "id": "21150889", "url": "https://glygen.org/publication/PubMed/21150889" } ] }, { "title": "Understanding mitochondrial complex I assembly in health and disease.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Mimaki M, Wang X, McKenzie M, Thorburn DR, Ryan MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6799198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198" } ], "reference": [ { "type": "PubMed", "id": "21924235", "url": "https://glygen.org/publication/PubMed/21924235" } ] }, { "title": "A conserved START domain coenzyme Q-binding polypeptide is required for efficient Q biosynthesis, respiratory electron transport, and antioxidant function in Saccharomyces cerevisiae.", "journal": "Biochimica et biophysica acta", "date": "2013", "authors": "Allan CM, Hill S, Morvaridi S, Saiki R, Johnson JS, Liau WS, Hirano K, Kawashima T, Ji Z, Loo JA, Shepherd JN, Clarke CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "23270816", "url": "https://glygen.org/publication/PubMed/23270816" } ] }, { "title": "NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.", "journal": "Neurology", "date": "2013", "authors": "Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6799198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198" } ], "reference": [ { "type": "PubMed", "id": "23553477", "url": "https://glygen.org/publication/PubMed/23553477" } ] }, { "title": "Molecular chaperone TRAP1 regulates a metabolic switch between mitochondrial respiration and aerobic glycolysis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Yoshida S, Tsutsumi S, Muhlebach G, Sourbier C, Lee MJ, Lee S, Vartholomaiou E, Tatokoro M, Beebe K, Miyajima N, Mohney RP, Chen Y, Hasumi H, Xu W, Fukushima H, Nakamura K, Koga F, Kihara K, Trepel J, Picard D, Neckers L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "23564345", "url": "https://glygen.org/publication/PubMed/23564345" } ] }, { "title": "The mitochondrial chaperone TRAP1 promotes neoplastic growth by inhibiting succinate dehydrogenase.", "journal": "Cell metabolism", "date": "2013", "authors": "Sciacovelli M, Guzzo G, Morello V, Frezza C, Zheng L, Nannini N, Calabrese F, Laudiero G, Esposito F, Landriscina M, Defilippi P, Bernardi P, Rasola A", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "23747254", "url": "https://glygen.org/publication/PubMed/23747254" } ] }, { "title": "Protonmotive redox mechanism of the cytochrome b-c1 complex in the respiratory chain: protonmotive ubiquinone cycle.", "journal": "FEBS letters", "date": "1975", "authors": "Mitchell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "239860", "url": "https://glygen.org/publication/PubMed/239860" } ] }, { "title": "Assembly factors for the membrane arm of human complex I.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Andrews B, Carroll J, Ding S, Fearnley IM, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6799198", "url": 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