{
"uniprot_canonical_ac": "O00763-1",
"uniprot_ac": "O00763",
"uniprot_id": "ACACB_HUMAN",
"mass": {
"chemical_mass": 276541.0,
"monoisotopic_mass": 276541.0
},
"refseq": {
"ac": "NP_001084",
"name": "acetyl-CoA carboxylase 2 isoform a",
"summary": "Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001084"
},
"gene_names": [
{
"name": "ACACB",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O00763",
"id": "O00763"
},
{
"name": "ACACB",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001084",
"id": "NP_001084"
},
{
"name": "ACACbeta; ACC-beta; ACC2; ACCB; ACCbeta; HACC275",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001084",
"id": "NP_001084"
},
{
"name": "ACC2",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O00763",
"id": "O00763"
},
{
"name": "ACCB",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O00763",
"id": "O00763"
}
],
"protein_names": [
{
"name": "Acetyl-CoA carboxylase 2",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O00763"
},
{
"name": "6.4.1.2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O00763"
},
{
"name": "ACC-beta",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O00763"
},
{
"name": "acetyl-CoA carboxylase 2 isoform a",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001084",
"id": "NP_001084"
},
{
"name": "acetyl-Coenzyme A carboxylase beta; acetyl-CoA carboxylase 2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001084",
"id": "NP_001084"
}
],
"function": [
{
"annotation": "ACACB is a novel metabolism-related biomarker in the prediction of response to cetuximab therapy inmetastatic colorectal cancer.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001084",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001084"
},
{
"database": "PubMed",
"id": "36111743",
"url": "https://glygen.org/publication/PubMed/36111743"
}
]
},
{
"annotation": "Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001084",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001084"
}
]
},
{
"annotation": "Acetyl-coenzyme A carboxylase beta gene polymorphism does not predict cardiovascular risk susceptibility in Chinese type 2 diabetic individuals.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001084",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001084"
},
{
"database": "PubMed",
"id": "34939260",
"url": "https://glygen.org/publication/PubMed/34939260"
}
]
},
{
"annotation": "Faster lipid beta-oxidation rate by acetyl-CoA carboxylase 2 inhibition alleviates high-glucose-induced insulin resistance via SIRT1/PGC-1alpha in human podocytes.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001084",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001084"
},
{
"database": "PubMed",
"id": "33957017",
"url": "https://glygen.org/publication/PubMed/33957017"
}
]
},
{
"annotation": "Identification of core gene in obese type 2 diabetes patients using bioinformatics analysis.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001084",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001084"
},
{
"database": "PubMed",
"id": "34085602",
"url": "https://glygen.org/publication/PubMed/34085602"
}
]
},
{
"annotation": "Mitochondrial enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA and plays a central role in fatty acid metabolism (PubMed:16854592, PubMed:19236960, PubMed:20457939, PubMed:20952656, PubMed:19900410, PubMed:26976583). Catalyzes a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA (PubMed:19236960, PubMed:20457939, PubMed:20952656, PubMed:26976583). Through the production of malonyl-CoA that allosterically inhibits carnitine palmitoyltransferase 1 at the mitochondria, negatively regulates fatty acid oxidation (By similarity). Together with its cytosolic isozyme ACACA, which is involved in de novo fatty acid biosynthesis, promotes lipid storage (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763#function"
},
{
"database": "PubMed",
"id": "20952656",
"url": "https://glygen.org/publication/PubMed/20952656"
},
{
"database": "PubMed",
"id": "16854592",
"url": "https://glygen.org/publication/PubMed/16854592"
},
{
"database": "UniProtKB",
"id": "E9Q4Z2",
"url": "https://www.uniprot.org/uniprot/E9Q4Z2#function"
},
{
"database": "PubMed",
"id": "19900410",
"url": "https://glygen.org/publication/PubMed/19900410"
},
{
"database": "PubMed",
"id": "20457939",
"url": "https://glygen.org/publication/PubMed/20457939"
},
{
"database": "PubMed",
"id": "19236960",
"url": "https://glygen.org/publication/PubMed/19236960"
},
{
"database": "PubMed",
"id": "26976583",
"url": "https://glygen.org/publication/PubMed/26976583"
}
]
},
{
"annotation": "Results identified ACC2 amino acid mutations affecting specific inhibition of the isozyme by compound CD-017-0191. They form two clusters separated by 60-90 A: one located in the vicinity of the BC active site and the other one in the vicinity of the ACC1 phosphorylation sites in the central domain, suggesting a contribution of the interface of two ACC dimers in the polymer to the inhibitor binding site.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001084",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001084"
},
{
"database": "PubMed",
"id": "29772612",
"url": "https://glygen.org/publication/PubMed/29772612"
}
]
}
],
"disease": [],
"snv": [
{
"evidence": [
{
"id": "O00763",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00763"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 1007,
"end_pos": 1007,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "M",
"sequence_mut": "T",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NVM->NVT).",
"chr_id": "12",
"chr_pos": "109206816",
"ref_nt": "T",
"alt_nt": "C",
"minor_allelic_frequency": "",
"site_lbl": "M1007",
"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": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "O00763",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00763"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 1157,
"end_pos": 1157,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "R",
"sequence_mut": "S",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NLR->NLS).",
"chr_id": "12",
"chr_pos": "109216827",
"ref_nt": "G",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "R1157",
"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"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "O00763",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00763"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 1199,
"end_pos": 1199,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "S",
"sequence_mut": "L",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "12",
"chr_pos": "109222538",
"ref_nt": "C",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "S1199",
"disease": [
{
"disease_id": "DOID:1319",
"recommended_name": {
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain cancer",
"description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
},
"synonyms": [
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "BT - Brain tumour",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "adult brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "adult malignant brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain neoplasm, adult",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant brain tumour",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant primary brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant primary brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant tumor of Brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant tumor of adult brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "neoplasm of brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary malignant neoplasm of brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
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}
]
},
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
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},
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},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
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"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
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"description": ""
}
]
},
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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},
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{
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"resource": "Disease Ontology",
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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},
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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},
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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}
]
}
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},
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{
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},
{
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{
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{
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{
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},
{
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{
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{
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},
{
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{
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{
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{
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],
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},
{
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{
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},
{
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{
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},
{
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{
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},
{
"evidence": [
{
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{
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},
{
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{
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{
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},
{
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{
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{
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},
{
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},
{
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{
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{
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{
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{
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{
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{
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},
{
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{
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{
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},
{
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{
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{
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{
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{
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},
{
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{
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},
{
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{
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},
{
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},
{
"id": "MONDO:0001056",
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},
{
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},
{
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{
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},
{
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{
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
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},
{
"id": "MONDO:0001056",
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},
{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
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{
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},
{
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},
{
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{
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{
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},
{
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},
{
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},
{
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{
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{
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{
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{
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{
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{
"id": "MONDO:0005575",
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{
"id": "MONDO:0005575",
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{
"id": "MONDO:0005575",
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{
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{
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}
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{
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{
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{
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{
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{
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{
"id": "MONDO:0012741",
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},
{
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{
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{
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},
{
"id": "MONDO:0012244",
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},
{
"id": "MONDO:0012244",
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},
{
"id": "MONDO:0012244",
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{
"id": "MONDO:0012244",
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},
{
"id": "MONDO:0012093",
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{
"id": "MONDO:0012093",
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},
{
"id": "MONDO:0012093",
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},
{
"id": "MONDO:0012093",
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"description": ""
},
{
"id": "MONDO:0012093",
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{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
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},
{
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{
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{
"id": "MONDO:0012094",
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{
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{
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},
{
"id": "MONDO:0012758",
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{
"id": "MONDO:0012758",
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{
"id": "MONDO:0012758",
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"description": ""
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{
"id": "MONDO:0012758",
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},
{
"id": "MONDO:0011270",
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},
{
"id": "MONDO:0011270",
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"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
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},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
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"description": ""
},
{
"id": "MONDO:0011270",
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"name": "HPC8",
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},
{
"id": "MONDO:0011270",
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"name": "predisposing for prostate cancer",
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},
{
"id": "MONDO:0011270",
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},
{
"id": "MONDO:0012300",
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},
{
"id": "MONDO:0012300",
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},
{
"id": "MONDO:0012300",
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"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
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"name": "HPC6",
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},
{
"id": "MONDO:0012300",
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"name": "prostate cancer, susceptibility to",
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},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
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"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
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},
{
"id": "MONDO:0012620",
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"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O00763",
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],
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{
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},
{
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{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumour of body of stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumour of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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"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",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
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{
"id": "DOID:11054",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
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},
{
"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",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"name": "malignant tumour of urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant urinary bladder neoplasm",
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},
{
"id": "MONDO:0001187",
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"name": "malignant urinary bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant urinary bladder tumour",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "urinary bladder malignant neoplasm",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
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},
{
"id": "MIM:109800",
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}
]
}
]
},
{
"significant": "Yes",
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{
"database": "BioXpress",
"id": "O00763",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00763"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O00763",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00763"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O00763",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00763"
}
],
"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": "Yes",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O00763",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00763"
}
],
"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": "O00763",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00763"
}
],
"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": "O00763",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00763"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "O00763",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00763"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
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},
{
"id": "DOID:363",
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},
{
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},
{
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},
{
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},
{
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{
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]
}
]
},
{
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{
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{
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},
{
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{
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{
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},
{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
"id": "MONDO:0007576",
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{
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{
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{
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{
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{
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{
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{
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},
{
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{
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},
{
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{
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},
{
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},
{
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{
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{
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{
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{
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{
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{
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},
{
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{
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{
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{
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{
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{
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},
{
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},
{
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{
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},
{
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]
}
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},
{
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"length": 2458,
"header": "sp|O00763-1|ACACB_HUMAN Isoform 1 of Acetyl-CoA carboxylase 2 OS=Homo sapiens OX=9606 GN=ACACB PE=1 SV=3 CANONICAL=O00763-1"
},
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"length": 112,
"header": "tr|A0A087WUA1-1|ACACB_HUMAN Computationally mapped isoform of Acetyl-CoA carboxylase 2 OS=Homo sapiens OX=9606 GN=ACACB PE=1 SV=1 CANONICAL=O00763-1"
},
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"strand": "-",
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{
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}
},
{
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"length": 143,
"header": "tr|F5H5C3-1|F5H5C3_HUMAN Computationally mapped isoform of Acetyl-CoA carboxylase beta OS=Homo sapiens OX=9606 GN=ACACB PE=1 SV=1 CANONICAL=O00763-1"
},
"locus": {
"chromosome": "12",
"start_pos": 109139909,
"end_pos": 109139481,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000539864.1",
"url": "https://www.ensembl.org/id/ENST00000539864.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000443494.1",
"url": "https://www.ensembl.org/id/ENSP00000443494.1"
}
]
}
},
{
"isoform_ac": "F8W8T8-1",
"url": "",
"sequence": {
"sequence": "MTVPISITNPDLLRHSTELFMDSGFSPLCQRMGAMVAFRRFEDFTRNFDEVISCFANVPKDTPLFSEARTSLYSEDDCKSLREEPIHILNVSIQCADHLEDEALVPILRTFVQSKKNILVDYGLRRITFLIAQEKEFPKFFTFRARDEFAEDRIYRHLEPALAFQLELNRMRNFDLTAVPCANHKMHLYLGAAKVKEGVEVTDHRFFIRAIIRHSDLITKEASFEYLQNEGERLLLEAMDELEVAFNNTSVRTDCNHIFLNFVPTVIMDPFKIEESVRYMVMRYGSRLWKLRVLQAEVKINIRQTTTGSAVPIRLFITNESGYYLDISLYKEVTDSRSGNIMFHSFGNKQGPQHGMLINTPYVTKDLLQAKRFQAQTLGTTYIYDFPEMFRQALFKLWGSPDKYPKDILTYTELVLDSQGQLVEMNRLPGGNEVGMVAFKMRFKTQEYPEGRDVIVIGNDITFRIGSFGPGEDLLYLRASEMARAEGIPKIYVAANSGARIGMAEEIKHMFHVAWVDPEDPHKGFKYLYLTPQDYTRISSLNSVHCKHIEEGGESRYMITDIIGKDDGLGVENLRGSGMIAGESSLAYEEIVTISLVTCRAIGIGAYLVRLGQRVIQVENSHIILTGASALNKVLGREVYTSNNQLGGVQIMHYNGVSHITVPDDFEGVYTILEWLSYMPKDNHSPVPIITPTDPIDREIEFLPSRAPYDPRWMLAGRPHPTLKGTWQSGFFDHGSFKEIMAPWAQTVVTGRARLGGIPVGVIAVETRTVEVAVPADPANLDSEAKIIQQAGQVWFPDSAYKTAQAVKDFNREKLPLMIFANWRGFSGGMKGCLGTWRDVSWWKIRAMLPMHIGEGSV",
"length": 858,
"header": "tr|F8W8T8-1|ACACB_HUMAN Computationally mapped isoform of Acetyl-CoA carboxylase 2 OS=Homo sapiens OX=9606 GN=ACACB PE=1 SV=2 CANONICAL=O00763-1"
},
"locus": {
"chromosome": "12",
"start_pos": 109260144,
"end_pos": 109232670,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000377854.9",
"url": "https://www.ensembl.org/id/ENST00000377854.9"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000367085.6",
"url": "https://www.ensembl.org/id/ENSP00000367085.6"
}
]
}
},
{
"isoform_ac": "H0YGH5-1",
"url": "",
"sequence": {
"sequence": "XMTVPISITNPDLLRHSTELFMDSGFSPLCQRMGAMVAFRRFEDFTRNFDEVISCFANVPKDTPLFSEARTSLYSEDDCKSLREEPIHILNVSIQCADHLEDEALVPILRTFVQSKKNILVDYGLRRITFLIAQEKEFPKFFTFRARDEFAEDRIYRHLEPALAFQLELNRMRNFDLTAVPCANHKMHLYLGAAKVKEGVEVTDHRFFIRAIIRHSDLITKEASFEYLQNEGERLLLEAMDELEVAFNNTSVRTDCNHIFLNFVPTVIMDPFKIEESVRYMVMRYGSRLWKLRVLQAEVKINIRQTTTGSAVPIRLFITNESGYYLDISLYKEVTDSRSGNIMFHSFGNKQGPQHGMLINTPYVTKDLLQAKRFQAQTLGTTYIYDFPEMFRQALFKLWGSPDKYPKDILTYTELVLDSQGQLVEMNRLPGGNEVGMVAFKMRFKTQEYPEGRDVIVIGNDITFRIGSFGPGEDLLYLRASEMARAEGIPKIYVAANSGARIGMAEEIKHMFHVAWVDPEDPHKGFKYLYLTPQDYTRISSLNSVHCKHIEEGGESRYMITDIIGKDDGLGVENLRGSGMIAGESSLAYEEIVTISLVTCRAIGIGAYLVRLGQRVIQVENSHIILTGASALNKVLGREVYTSNNQLGGVQIMHYNGVSHITVPDDFEGVYTILEWLSYMPKDNHSPVPIITPTDPIDREIEFLPSRAPYDPRWMLAGRPHPTLKGTWQSGFFDHGSFKEIMAPWAQTVVTGRARLGGIPVGVIAVETRTVEVAVPADPANLDSEAKIIQQAGQVWFPDSAYKTAQAVKDFNREKLPLMIFANWRGFSGGMKGCLGTWRDVSWWKIRAMLPMHIGEGSV",
"length": 859,
"header": "tr|H0YGH5-1|ACACB_HUMAN Computationally mapped isoform of Acetyl-CoA carboxylase 2 OS=Homo sapiens OX=9606 GN=ACACB PE=1 SV=1 CANONICAL=O00763-1"
},
"locus": {
"chromosome": "12",
"start_pos": 109260146,
"end_pos": 109232669,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000538526.5",
"url": "https://www.ensembl.org/id/ENST00000538526.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000443281.1",
"url": "https://www.ensembl.org/id/ENSP00000443281.1"
}
]
}
},
{
"isoform_ac": "O00763-1",
"url": "",
"sequence": {
"sequence": "MVLLLCLSCLIFSCLTFSWLKIWGKMTDSKPITKSKSEANLIPSQEPFPASDNSGETPQRNGEGHTLPKTPSQAEPASHKGPKDAGRRRNSLPPSHQKPPRNPLSSSDAAPSPELQANGTGTQGLEATDTNGLSSSARPQGQQAGSPSKEDKKQANIKRQLMTNFILGSFDDYSSDEDSVAGSSRESTRKGSRASLGALSLEAYLTTGEAETRVPTMRPSMSGLHLVKRGREHKKLDLHRDFTVASPAEFVTRFGGDRVIEKVLIANNGIAAVKCMRSIRRWAYEMFRNERAIRFVVMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELIVDIAKRIPVQAVWAGWGHASENPKLPELLCKNGVAFLGPPSEAMWALGDKIASTVVAQTLQVPTLPWSGSGLTVEWTEDDLQQGKRISVPEDVYDKGCVKDVDEGLEAAERIGFPLMIKASEGGGGKGIRKAESAEDFPILFRQVQSEIPGSPIFLMKLAQHARHLEVQILADQYGNAVSLFGRDCSIQRRHQKIVEEAPATIAPLAIFEFMEQCAIRLAKTVGYVSAGTVEYLYSQDGSFHFLELNPRLQVEHPCTEMIADVNLPAAQLQIAMGVPLHRLKDIRLLYGESPWGVTPISFETPSNPPLARGHVIAARITSENPDEGFKPSSGTVQELNFRSSKNVWGYFSVAATGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLINLLETESFQNNDIDTGWLDYLIAEKVQAEKPDIMLGVVCGALNVADAMFRTCMTDFLHSLERGQVLPADSLLNLVDVELIYGGVKYILKVARQSLTMFVLIMNGCHIEIDAHRLNDGGLLLSYNGNSYTTYMKEEVDSYRITIGNKTCVFEKENDPTVLRSPSAGKLTQYTVEDGGHVEAGSSYAEMEVMKMIMTLNVQERGRVKYIKRPGAVLEAGCVVARLELDDPSKVHPAEPFTGELPAQQTLPILGEKLHQVFHSVLENLTNVMSGFCLPEPVFSIKLKEWVQKLMMTLRHPSLPLLELQEIMTSVAGRIPAPVEKSVRRVMAQYASNITSVLCQFPSQQIATILDCHAATLQRKADREVFFINTQSIVQLVQRYRSGIRGYMKTVVLDLLRRYLRVEHHFQQAHYDKCVINLREQFKPDMSQVLDCIFSHAQVAKKNQLVIMLIDELCGPDPSLSDELISILNELTQLSKSEHCKVALRARQILIASHLPSYELRHNQVESIFLSAIDMYGHQFCPENLKKLILSETTIFDVLPTFFYHANKVVCMASLEVYVRRGYIAYELNSLQHRQLPDGTCVVEFQFMLPSSHPNRMTVPISITNPDLLRHSTELFMDSGFSPLCQRMGAMVAFRRFEDFTRNFDEVISCFANVPKDTPLFSEARTSLYSEDDCKSLREEPIHILNVSIQCADHLEDEALVPILRTFVQSKKNILVDYGLRRITFLIAQEKEFPKFFTFRARDEFAEDRIYRHLEPALAFQLELNRMRNFDLTAVPCANHKMHLYLGAAKVKEGVEVTDHRFFIRAIIRHSDLITKEASFEYLQNEGERLLLEAMDELEVAFNNTSVRTDCNHIFLNFVPTVIMDPFKIEESVRYMVMRYGSRLWKLRVLQAEVKINIRQTTTGSAVPIRLFITNESGYYLDISLYKEVTDSRSGNIMFHSFGNKQGPQHGMLINTPYVTKDLLQAKRFQAQTLGTTYIYDFPEMFRQALFKLWGSPDKYPKDILTYTELVLDSQGQLVEMNRLPGGNEVGMVAFKMRFKTQEYPEGRDVIVIGNDITFRIGSFGPGEDLLYLRASEMARAEGIPKIYVAANSGARIGMAEEIKHMFHVAWVDPEDPHKGFKYLYLTPQDYTRISSLNSVHCKHIEEGGESRYMITDIIGKDDGLGVENLRGSGMIAGESSLAYEEIVTISLVTCRAIGIGAYLVRLGQRVIQVENSHIILTGASALNKVLGREVYTSNNQLGGVQIMHYNGVSHITVPDDFEGVYTILEWLSYMPKDNHSPVPIITPTDPIDREIEFLPSRAPYDPRWMLAGRPHPTLKGTWQSGFFDHGSFKEIMAPWAQTVVTGRARLGGIPVGVIAVETRTVEVAVPADPANLDSEAKIIQQAGQVWFPDSAYKTAQAVKDFNREKLPLMIFANWRGFSGGMKDMYDQVLKFGAYIVDGLRQYKQPILIYIPPYAELRGGSWVVIDATINPLCIEMYADKESRGGVLEPEGTVEIKFRKKDLIKSMRRIDPAYKKLMEQLGEPDLSDKDRKDLEGRLKAREDLLLPIYHQVAVQFADFHDTPGRMLEKGVISDILEWKTARTFLYWRLRRLLLEDQVKQEILQASGELSHVHIQSMLRRWFVETEGAVKAYLWDNNQVVVQWLEQHWQAGDGPRSTIRENITYLKHDSVLKTIRGLVEENPEVAVDCVIYLSQHISPAERAQVVHLLSTMDSPAST",
"length": 2458,
"header": "sp|O00763-1|ACACB_HUMAN Isoform 1 of Acetyl-CoA carboxylase 2 OS=Homo sapiens OX=9606 GN=ACACB PE=1 SV=3 CANONICAL=O00763-1"
},
"locus": {
"chromosome": "12",
"start_pos": 109266359,
"end_pos": 109139406,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000338432.12",
"url": "https://www.ensembl.org/id/ENST00000338432.12"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000341044.7",
"url": "https://www.ensembl.org/id/ENSP00000341044.7"
}
]
}
},
{
"isoform_ac": "O00763-2",
"url": "",
"sequence": {
"sequence": "MVLLLCLSCLIFSCLTFSWLKIWGKMTDSKPITKSKSEANLIPSQEPFPASDNSGETPQRNGEGHTLPKTPSQAEPASHKGPKDAGRRRNSLPPSHQKPPRNPLSSSDAAPSPELQANGTGTQGLEATDTNGLSSSARPQGQQAGSPSKEDKKQANIKRQLMTNFILGSFDDYSSDEDSVAGSSRESTRKGSRASLGALSLEAYLTTGEAETRVPTMRPSMSGLHLVKRGREHKKLDLHRDFTVASPAEFVTRFGGDRVIEKVLIANNGIAAVKCMRSIRRWAYEMFRNERAIRFVVMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELIVDIAKRIPVQAVWAGWGHASENPKLPELLCKNGVAFLGPPSEAMWALGDKIASTVVAQTLQVPTLPWSGSGLTVEWTEDDLQQGKRISVPEDVYDKGCVKDVDEGLEAAERIGFPLMIKASEGGGGKGIRKAESAEDFPILFRQVQSEIPGSPIFLMKLAQHARHLEVQILADQYGNAVSLFGRDCSIQRRHQKIVEEAPATIAPLAIFEFMEQCAIRLAKTVGYVSAGTVEYLYSQDGSFHFLELNPRLQVEHPCTEMIADVNLPAAQLQIAMGVPLHRLKDIRLLYGESPWGVTPISFETPSNPPLARGHVIAARITSENPDEGFKPSSGTVQELNFRSSKNVWGYFSVAATGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLINLLETESFQNNDIDTGWLDYLIAEKVQAEKPDIMLGVVCGALNVADAMFRTCMTDFLHSLERGQVLPADSLLNLVDVELIYGGVKYILKVARQSLTMFVLIMNGCHIEIDAHRLNDGGLLLSYNGNSYTTYMKEEVDSYRITIGNKTCVFEKENDPTVLRSPSAGKLTQYTVEDGGHVEAGSSYAEMEVMKMIMTLNVQERGRVKYIKRPGAVLEAGCVVARLELDDPSKVHPAEPFTGELPAQQTLPILGEKLHQVFHSVLENLTNVMSGFCLPEPVFSIKLKEWVQKLMMTLRHPSLPLLELQEIMTSVAGRIPAPVEKSVRRVMAQYASNITSVLCQFPSQQIATILDCHAATLQRKADREVFFINTQSIVQLVQRIDELCGPDPSLSDELISILNELTQLSKSEHCKVALRARQILIASHLPSYELRHNQVESIFLSAIDMYGHQFCPENLKKLILSETTIFDVLPTFFYHANKVVCMASLEVYVRRGYIAYELNSLQHRQLPDGTCVVEFQFMLPSSHPNRMTVPISITNPDLLRHSTELFMDSGFSPLCQRMGAMVAFRRFEDFTRNFDEVISCFANVPKDTPLFSEARTSLYSEDDCKSLREEPIHILNVSIQCADHLEDEALVPILRTFVQSKKNILVDYGLRRITFLIAQEKEFPKFFTFRARDEFAEDRIYRHLEPALAFQLELNRMRNFDLTAVPCANHKMHLYLGAAKVKEGVEVTDHRFFIRAIIRHSDLITKEASFEYLQNEGERLLLEAMDELEVAFNNTSVRTDCNHIFLNFVPTVIMDPFKIEESVRYMVMRYGSRLWKLRVLQAEVKINIRQTTTGSAVPIRLFITNESGYYLDISLYKEVTDSRSGNIMFHSFGNKQGPQHGMLINTPYVTKDLLQAKRFQAQTLGTTYIYDFPEMFRQALFKLWGSPDKYPKDILTYTELVLDSQGQLVEMNRLPGGNEVGMVAFKMRFKTQEYPEGRDVIVIGNDITFRIGSFGPGEDLLYLRASEMARAEGIPKIYVAANSGARIGMAEEIKHMFHVAWVDPEDPHKGFKYLYLTPQDYTRISSLNSVHCKHIEEGGESRYMITDIIGKDDGLGVENLRGSGMIAGESSLAYEEIVTISLVTCRAIGIGAYLVRLGQRVIQVENSHIILTGASALNKVLGREVYTSNNQLGGVQIMHYNGVSHITVPDDFEGVYTILEWLSYMPKDNHSPVPIITPTDPIDREIEFLPSRAPYDPRWMLAGRPHPTLKGTWQSGFFDHGSFKEIMAPWAQTVVTGRARLGGIPVGVIAVETRTVEVAVPADPANLDSEAKIIQQAGQVWFPDSAYKTAQAVKDFNREKLPLMIFANWRGFSGGMKDMYDQVLKFGAYIVDGLRQYKQPILIYIPPYAELRGGSWVVIDATINPLCIEMYADKESRGGVLEPEGTVEIKFRKKDLIKSMRRIDPAYKKLMEQLGEPDLSDKDRKDLEGRLKAREDLLLPIYHQVAVQFADFHDTPGRMLEKGVISDILEWKTARTFLYWRLRRLLLEDQVKQEILQASGELSHVHIQSMLRRWFVETEGAVKAYLWDNNQVVVQWLEQHWQAGDGPRSTIRENITYLKHDSVLKTIRGLVEENPEVAVDCVIYLSQHISPAERAQVVHLLSTMDSPAST",
"length": 2388,
"header": "sp|O00763-2|ACACB_HUMAN Isoform 2 of Acetyl-CoA carboxylase 2 OS=Homo sapiens OX=9606 GN=ACACB PE=1 SV=3 CANONICAL=O00763-1"
},
"locus": {}
},
{
"isoform_ac": "O00763-3",
"url": "",
"sequence": {
"sequence": "MSPAKCKICFPDREVKPSMSGLHLVKRGREHKKLDLHRDFTVASPAEFVTRFGGDRVIEKVLIANNGIAAVKCMRSIRRWAYEMFRNERAIRFVVMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELIVDIAKRIPVQAVWAGWGHASENPKLPELLCKNGVAFLGPPSEAMWALGDKIASTVVAQTLQVPTLPWSGSGLTVEWTEDDLQQGKRISVPEDVYDKGCVKDVDEGLEAAERIGFPLMIKASEGGGGKGIRKAESAEDFPILFRQVQSEIPGSPIFLMKLAQHARHLEVQILADQYGNAVSLFGRDCSIQRRHQKIVEEAPATIAPLAIFEFMEQCAIRLAKTVGYVSAGTVEYLYSQDGSFHFLELNPRLQVEHPCTEMIADVNLPAAQLQIAMGVPLHRLKDIRLLYGESPWGVTPISFETPSNPPLARGHVIAARITSENPDEGFKPSSGTVQELNFRSSKNVWGYFSVAATGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLINLLETESFQNNDIDTGWLDYLIAEKVQAEKPDIMLGVVCGALNVADAMFRTCMTDFLHSLERGQVLPADSLLNLVDVELIYGGVKYILKVARQSLTMFVLIMNGCHIEIDAHRLNDGGLLLSYNGNSYTTYMKEEVDSYRITIGNKTCVFEKENDPTVLRSPSAGKLTQYTVEDGGHVEAGSSYAEMEVMKMIMTLNVQERGRVKYIKRPGAVLEAGCVVARLELDDPSKVHPAEPFTGELPAQQTLPILGEKLHQVFHSVLENLTNVMSGFCLPEPVFSIKLKEWVQKLMMTLRHPSLPLLELQEIMTSVAGRIPAPVEKSVRRVMAQYASNITSVLCQFPSQQIATILDCHAATLQRKADREVFFINTQSIVQLVQRYRSGIRGYMKTVVLDLLRRYLRVEHHFQQAHYDKCVINLREQFKPDMSQVLDCIFSHAQVAKKNQLVIMLIDELCGPDPSLSDELISILNELTQLSKSEHCKVALRARQILIASHLPSYELRHNQVESIFLSAIDMYGHQFCPENLKKLILSETTIFDVLPTFFYHANKVVCMASLEVYVRRGYIAYELNSLQHRQLPDGTCVVEFQFMLPSSHPNRMTVPISITNPDLLRHSTELFMDSGFSPLCQRMGAMVAFRRFEDFTRNFDEVISCFANVPKDTPLFSEARTSLYSEDDCKSLREEPIHILNVSIQCADHLEDEALVPILRTFVQSKKNILVDYGLRRITFLIAQEKEFPKFFTFRARDEFAEDRIYRHLEPALAFQLELNRMRNFDLTAVPCANHKMHLYLGAAKVKEGVEVTDHRFFIRAIIRHSDLITKEASFEYLQNEGERLLLEAMDELEVAFNNTSVRTDCNHIFLNFVPTVIMDPFKIEESVRYMVMRYGSRLWKLRVLQAEVKINIRQTTTGSAVPIRLFITNESGYYLDISLYKEVTDSRSGNIMFHSFGNKQGPQHGMLINTPYVTKDLLQAKRFQAQTLGTTYIYDFPEMFRQALFKLWGSPDKYPKDILTYTELVLDSQGQLVEMNRLPGGNEVGMVAFKMRFKTQEYPEGRDVIVIGNDITFRIGSFGPGEDLLYLRASEMARAEGIPKIYVAANSGARIGMAEEIKHMFHVAWVDPEDPHKGFKYLYLTPQDYTRISSLNSVHCKHIEEGGESRYMITDIIGKDDGLGVENLRGSGMIAGESSLAYEEIVTISLVTCRAIGIGAYLVRLGQRVIQVENSHIILTGASALNKVLGREVYTSNNQLGGVQIMHYNGVSHITVPDDFEGVYTILEWLSYMPKDNHSPVPIITPTDPIDREIEFLPSRAPYDPRWMLAGRPHPTLKGTWQSGFFDHGSFKEIMAPWAQTVVTGRARLGGIPVGVIAVETRTVEVAVPADPANLDSEAKIIQQAGQVWFPDSAYKTAQAVKDFNREKLPLMIFANWRGFSGGMKDMYDQVLKFGAYIVDGLRQYKQPILIYIPPYAELRGGSWVVIDATINPLCIEMYADKESRGGVLEPEGTVEIKFRKKDLIKSMRRIDPAYKKLMEQLGEPDLSDKDRKDLEGRLKAREDLLLPIYHQVAVQFADFHDTPGRMLEKGVISDILEWKTARTFLYWRLRRLLLEDQVKQEILQASGELSHVHIQSMLRRWFVETEGAVKAYLWDNNQVVVQWLEQHWQAGDGPRSTIRENITYLKHDSVLKTIRGLVEENPEVAVDCVIYLSQHISPAERAQVVHLLSTMDSPAST",
"length": 2256,
"header": "sp|O00763-3|ACACB_HUMAN Isoform 3 of Acetyl-CoA carboxylase 2 OS=Homo sapiens OX=9606 GN=ACACB PE=1 SV=3 CANONICAL=O00763-1"
},
"locus": {}
},
{
"isoform_ac": "S4R3S7-1",
"url": "",
"sequence": {
"sequence": "MSPAKCKICFPDREVKPSMSGLHLVKRGREHKKLDLHRDFTVASPAEFVTRFGGDRVIEKVLIANNGIAAVKCMRSIRRWAYEMFRNERAIRFVVMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELIVDIAKRIPVQAVWAGWGHASEN",
"length": 155,
"header": "tr|S4R3S7-1|ACACB_HUMAN Computationally mapped isoform of Acetyl-CoA carboxylase 2 OS=Homo sapiens OX=9606 GN=ACACB PE=1 SV=1 CANONICAL=O00763-1"
},
"locus": {
"chromosome": "12",
"start_pos": 109172310,
"end_pos": 109154894,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000544726.2",
"url": "https://www.ensembl.org/id/ENST00000544726.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000474680.1",
"url": "https://www.ensembl.org/id/ENSP00000474680.1"
}
]
}
}
],
"glycosylation": [
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 1752,
"start_aa": "Ser",
"end_pos": 1752,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser1752",
"evidence": [
{
"id": "O00763",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00763"
},
{
"id": "38253038",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/38253038"
}
]
}
],
"phosphorylation": [
{
"start_pos": 1340,
"end_pos": 1340,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"site_lbl": "Ser1340"
},
{
"start_pos": 1342,
"end_pos": 1342,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "Phosphothreonine",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
},
{
"database": "PubMed",
"id": "24275569",
"url": "https://glygen.org/publication/PubMed/24275569"
},
{
"database": "iPTMnet",
"id": "O00763",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00763"
},
{
"database": "PubMed",
"id": "20166139",
"url": "https://glygen.org/publication/PubMed/20166139"
}
],
"site_lbl": "Thr1342"
},
{
"start_pos": 1360,
"end_pos": 1360,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"site_lbl": "Ser1360"
},
{
"start_pos": 1405,
"end_pos": 1405,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"site_lbl": "Ser1405"
},
{
"start_pos": 169,
"end_pos": 169,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"site_lbl": "Ser169"
},
{
"start_pos": 175,
"end_pos": 175,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"site_lbl": "Ser175"
},
{
"start_pos": 192,
"end_pos": 192,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"site_lbl": "Ser192"
},
{
"start_pos": 195,
"end_pos": 195,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
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"authors": "Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-2426168",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168"
}
],
"reference": [
{
"type": "PubMed",
"id": "9634533",
"url": "https://glygen.org/publication/PubMed/9634533"
}
]
},
{
"title": "Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2.",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Tamai I, Ohashi R, Nezu J, Yabuuchi H, Oku A, Shimane M, Sai Y, Tsuji A",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-200425",
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}
],
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{
"type": "PubMed",
"id": "9685390",
"url": "https://glygen.org/publication/PubMed/9685390"
}
]
},
{
"title": "Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.",
"journal": "The Journal of clinical investigation",
"date": "1998",
"authors": "IJlst L, Mandel H, Oostheim W, Ruiter JP, Gutman A, Wanders RJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-200425",
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}
],
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"type": "PubMed",
"id": "9691089",
"url": "https://glygen.org/publication/PubMed/9691089"
}
]
},
{
"title": "Genetic disorders of carnitine metabolism and their nutritional management.",
"journal": "Annual review of nutrition",
"date": "1998",
"authors": "Kerner J, Hoppel C",
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{
"database": "Reactome",
"id": "R-HSA-200425",
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],
"reference": [
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"type": "PubMed",
"id": "9706223",
"url": "https://glygen.org/publication/PubMed/9706223"
}
]
},
{
"title": "Differential stimulation of cholesterol and unsaturated fatty acid biosynthesis in cells expressing individual nuclear sterol regulatory element-binding proteins.",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Pai JT, Guryev O, Brown MS, Goldstein JL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-2426168",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168"
}
],
"reference": [
{
"type": "PubMed",
"id": "9748295",
"url": "https://glygen.org/publication/PubMed/9748295"
}
]
}
],
"pathway": [
{
"id": "hsa:32",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:32",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-163765",
"name": "ChREBP activates metabolic gene expression",
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"description": "ChREBP activates metabolic gene expression"
},
{
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"name": "Biotin transport and metabolism",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780",
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"description": "Biotin transport and metabolism"
},
{
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"description": "Carnitine metabolism"
},
{
"id": "R-HSA-2426168",
"name": "Activation of gene expression by SREBF (SREBP)",
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"resource": "Reactome",
"description": "Activation of gene expression by SREBF (SREBP)"
}
],
"orthologs": [
{
"uniprot_canonical_ac": "E9PSQ0-1",
"protein_name": "acetyl-CoA carboxylase",
"gene_name": "Acacb",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MVLLLFLTCLVFSCLTISWLKIWGKMTDSKPLSNSKVDASLLSSKEESFSASDQSEEHGDCSCPLTTPDQEELASHGGPVDASQQRNSVPSSHQKPPRNPLSSNDTCSSPELQTNRVAAPGSEVPEANGLPFPARPQTQRTGSPTREDKKQAHIKRQLMTSFILGSLDDNSSDEDPSASSFQTSSRKGSRASLGTLSQEAALNTADPESHTPTMRPSMSGLHLVKRGREHKKLDLHRDFTVASPAEFVTRFGGNRVIETVLIANNGIAAVKCMRSIRRWAYEMFRNERAIRFVVMVTPEDLKANAEYIKMADQYVPVPGGPNNNNYANVELIIDIAKRIPVQAVWAGWGHASENPKLPELLCKHEIAFLGPPSEAMWALGDKISSTIVAQTLQIPTLPWSGSGLTVEWTEDSQHQGKCISVPEDVYEQGCVRDVDEGLQAAEKVGFPLMIKASEGGGGKGIRRAESAEDFPMLFRQVQSEIPGSPIFLMKLAQNARHLEVQVLADQYGNAVSLFGRDCSIQRRHQKIIEEAPATIAAPAVFEFMEQCAVLLAKTVGYVSAGTVEYLYSQDGSFHFLELNPRLQVEHPCTEMIADVNLPAAQLQIAMGVPLHRLKDIRLLYGESPWGVTPVSFETPLSPPIARGHVIAARITSENPDEASGFKPSSGTVQELNFRSNKNVWGYFSVAAAGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLVNLLETESFQNNDIDTGWLDHLIAQRVQAEKPDIMLGVVCGALNVADAMFRTCMTEFLHSLERGQVLPADSLLNIVDVELIYGGIKYVLKVARQSLTMFVLIMNGCHIEIDAHRLNDGGLLLSYNGSSYTTYMKEEVDSYRITIGNKTCVFEKENDPTVLRSPSAGKLMQYTVEDGQHVEVGSSYAEMEVMKMIMTLNVQESGRVKYIKRPGAVLEAGCVVAKLELDDPSKVHAAQPFTGELPAQQTLPILGERLHQVFHSVLENLTNVMNGYCLPEPFFSMKLKDWVEKLMMTLRHPSLPLLELQEIMTSVAGRIPVPVEKAVRRVMAQYASNITSVLCQFPSQQIATILDCHAATLQRKVDREAFFMNTQSIVQLIQRQEDGTRGYMKAVVLDLLRRYLNVEHHFQQGKRHHPQLCVINLREQFKPDMTRVLDCIFSHSQVAKKNQLVTMLIDELCGPDPTLSEELTSILKELTQLSRSEHCKVALRARQVLIASHLPSYELRHNQVESIFLSAIDMYGHQFCPENLKKLILSETTIFDVLPTFFYHANKVVCMASLEVYVRRGYIAYELNSLQHRELPDGTCVVEFQFMLPSSHPNRMAMPINVSDPDLLRHSKELFMDSGFSPLCQRMGAMVAFRRFEEFTRNFDEVISCFANVPTDTPLFSKACTSLYSEEDSKSLQEEPIHILNVAIQCADHMEDERLVPVFRAFVQSKKHILVDYGLRRITFLIAQEREFPKFFTFRARDEFAEDRIYRHLEPALAFQLELSRMRNFDLTAVPCANHKMHLYLGAAKVKEGLEVTDHRFFIRAIIRHSDLITKEASFEYLQNEGERLLLEAMDELEVAFNNTSVRTDCNHIFLNFVPTVIMDPLKIEESVRAMVMRYGSRLWKLRVLQAEVKINIRQTTSDCAVPIRLFITNESGYYLDISLYKEVTDSRSGNIMFHSFGNKQGSLHGMLINTPYVTKDLLQAKRFQAQSLGTTYVYDFPEMFRQALFKLWGSPEKYPKDILTYTELVLDSQGQLVEMNRLPGCNEVGMVVFKMRFKTPEYPEGRDTIVIGNDITFQIGSFGIGEDFLYLRASEMARTEGIPQIYLAANSGARMGLSEEIKQIFQVAWVDPEDPYKGFRYLYLTPQDYTQISSQNSVHCKHIEDEGESRYVIVDVIGKDSSLGVENLRGSGMIAGEASLAYEKNVTISMVTCRAIGIGAYLVRLGQRVIQVENSHIILTGAGALNKVLGREVYTSNNQLGGVQIMHTNGVSHVTVPDDFEGVCTILEWLSYIPKDNQSPVPIITPSDPIDREIEFTPTKAPYDPRWLLAGRPHPTLKGTWQSGFFDHGSFKEIMAPWAQTVVTGRARLGGIPVGVIAVETRSVEVAVPADPANLDSEAKIIQQAGQVWFPDSAFKTAQVIRDFNQEHLPLMIFANWRGFSGGMKDMYEQMLKFGAYIVDSLRLFKQPVLIYIPPGAELRGGAWVVLDSSINPLCIEMYADKESRGGVLEPEGTVEIKFRKKDLVKTIRRIDPVCKKLLGQLGTAQLPDKDRKELESQLKAREDLLLPIYHQVAVQFADLHDTPGHMLEKGIISVRVPHRDTEDHIGVSLCLYLGEAWALERIDKCRLQFGSEDILSLLPSTMGSCRARLCAYLWDSNQVVVQWLEQHWSARDNLRSTIRENINYLKRDSVLKTIQSLVQEHPEATMDCVAYLSQHLTPAEQMQVVQLLSTTESPASH",
"length": 2460
},
"evidence": [
{
"id": "45926559",
"url": "http://www.informatics.jax.org/homology/45926559",
"database": "MGI"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "E9Q4Z2-1",
"protein_name": "Acetyl-CoA carboxylase 2",
"gene_name": "Acacb",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MVLLLFLTCLVFSCLTFSWLKIWGKMTDSKPLTNSKVEANLLSSEESLSASELSGEQLQEHGDHSCLSYRGPRDASQQRNSLPSSCQRPPRNPLSSNDTWPSPELQTNWTAAPGPEVPDANGLSFPARPPSQRTVSPSREDRKQAHIKRQLMTSFILGSLDDNSSDEDPSAGSFQNSSRKSSRASLGTLSQEAALNTSDPESHAPTMRPSMSGLHLVKRGREHKKLDLHRDFTVASPAEFVTRFGGNRVIEKVLIANNGIAAVKCMRSIRRWAYEMFRNERAIRFVVMVTPEDLKANAEYIKMADQYVPVPGGPNNNNYANVELIIDIAKRIPVQAVWAGWGHASENPKLPELLCKHEIAFLGPPSEAMWALGDKIASTIVAQTLQIPTLPWSGSGLTVEWTEDSRHQGKCISVPEDVYEQGCVKDVDEGLQAAEKIGFPLMIKASEGGGGKGIRKAESAEDFPMLFRQVQSEIPGSPIFLMKLAQNARHLEVQVLADQYGNAVSLFGRDCSIQRRHQKIIEEAPATIAAPAVFEFMEQCAVLLAKMVGYVSAGTVEYLYSQDGSFHFLELNPRLQVEHPCTEMIADVNLPAAQLQIAMGVPLHRLKDIRLLYGESPWGVTPIPFETPLSPPIARGHVIAARITSENPDEGFKPSSGTVQELNFRSNKNVWGYFSVAAAGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLVNLLETESFQNNDIDTGWLDHLIAQRVQAEKPDIMLGVVCGALNVADAMFRTCMTEFLHSLERGQVLPADSLLNIVDVELIYGGIKYALKVARQSLTMFVLIMNGCHIEIDAHRLNDGGLLLSYNGSSYTTYMKEEVDSYRITIGNKTCVFEKENDPTVLRSPSAGKLMQYTVEDGDHVEAGSSYAEMEVMKMIMTLNVQESGRVKYIKRPGVILEAGCVVARLELDDPSKVHAAQPFTGELPAQQTLPILGEKLHQVFHGVLENLTNVMSGYCLPEPFFSMKLKDWVQKLMMTLRHPSLPLLELQEIMTSVAGRIPAPVEKAVRRVMAQYASNITSVLCQFPSQQIATILDCHAATLQRKADREVFFMNTQSIVQLVQRYRSGTRGYMKAVVLDLLRKYLNVEHHFQQAHYDKCVINLREQFKPDMTQVLDCIFSHSQVAKKNQLVTMLIDELCGPDPTLSDELTSILCELTQLSRSEHCKVALRARQVLIASHLPSYELRHNQVESIFLSAIDMYGHQFCPENLKKLILSETTIFDVLPTFFYHENKVVCMASLEVYVRRGYIAYELNSLQHRELPDGTCVVEFQFMLPSSHPNRMAVPISVSNPDLLRHSTELFMDSGFSPLCQRMGAMVAFRRFEEFTRNFDEVISCFANVQTDTLLFSKACTSLYSEEDSKSLREEPIHILNVAIQCADHMEDEALVPVFRAFVQSKKHILVDYGLRRITFLVAQEREFPKFFTFRARDEFAEDRIYRHLEPALAFQLELSRMRNFDLTAVPCANHKMHLYLGAAKVKEGLEVTDHRFFIRAIIRHSDLITKEASFEYLQNEGERLLLEAMDELEVAFNNTSVRTDCNHIFLNFVPTVIMDPLKIEESVRDMVMRYGSRLWKLRVLQAEVKINIRQTTSDSAIPIRLFITNESGYYLDISLYREVTDSRSGNIMFHSFGNKQGSLHGMLINTPYVTKDLLQAKRFQAQSLGTTYVYDFPEMFRQALFKLWGSPEKYPKDILTYTELVLDSQGQLVEMNRLPGCNEVGMVAFKMRFKTPEYPEGRDAVVIGNDITFQIGSFGIGEDFLYLRASEMARTEGIPQIYLAANSGARMGLAEEIKQIFQVAWVDPEDPHKGFRYLYLTPQDYTQISSQNSVHCKHIEDEGESRYVIVDVIGKDANLGVENLRGSGMIAGEASLAYEKTVTISMVTCRALGIGAYLVRLGQRVIQVENSHIILTGAGALNKVLGREVYTSNNQLGGVQIMHTNGVSHVTVPDDFEGVCTILEWLSFIPKDNRSPVPITTPSDPIDREIEFTPTKAPYDPRWMLAGRPHPTLKGTWQSGFFDHGSFKEIMAPWAQTVVTGRARLGGIPVGVIAVETRTVEVAVPADPANLDSEAKIIQQAGQVWFPDSAYKTAQVIRDFNKERLPLMIFANWRGFSGGMKDMYEQMLKFGAYIVDGLRLYEQPILIYIPPCAELRGGSWVVLDSTINPLCIEMYADKESRGGVLEPEGTVEIKFRKKDLVKTIRRIDPVCKKLVGQLGKAQLPDKDRKELEGQLKAREELLLPIYHQVAVQFADLHDTPGHMLEKGIISDVLEWKTARTFFYWRLRRLLLEAQVKQEILRASPELNHEHTQSMLRRWFVETEGAVKAYLWDSNQVVVQWLEQHWSAKDGLRSTIRENINYLKRDSVLKTIQSLVQEHPEVIMDCVAYLSQHLTPAERIQVAQLLSTTESPASS",
"length": 2448
},
"evidence": [
{
"id": "45926559",
"url": "http://www.informatics.jax.org/homology/45926559",
"database": "MGI"
},
{
"id": "O00763",
"url": "https://omabrowser.org/oma/group/O00763/",
"database": "OMA"
}
],
"common_name": "Mouse"
}
],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 6,
"go_terms": [
{
"name": "ATP binding",
"id": "GO:0005524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524",
"evidence": [
{
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"id": "O00763",
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}
],
"pmid": ""
},
{
"name": "acetyl-CoA carboxylase activity",
"id": "GO:0003989",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003989",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "ligase activity",
"id": "GO:0016874",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "identical protein binding",
"id": "GO:0042802",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "metal ion binding",
"id": "GO:0046872",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "biotin binding",
"id": "GO:0009374",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009374",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 21,
"go_terms": [
{
"name": "fatty acid biosynthetic process",
"id": "GO:0006633",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "glucose import",
"id": "GO:0046323",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046323",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "response to nutrient",
"id": "GO:0007584",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "negative regulation of gene expression",
"id": "GO:0010629",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "protein homotetramerization",
"id": "GO:0051289",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "acetyl-CoA metabolic process",
"id": "GO:0006084",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006084",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "positive regulation of lipid storage",
"id": "GO:0010884",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010884",
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{
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"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
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},
{
"name": "regulation of glucose metabolic process",
"id": "GO:0010906",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906",
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{
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"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "response to organic cyclic compound",
"id": "GO:0014070",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014070",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "negative regulation of fatty acid beta-oxidation",
"id": "GO:0031999",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031999",
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{
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"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "positive regulation of heart growth",
"id": "GO:0060421",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060421",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
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},
{
"name": "energy homeostasis",
"id": "GO:0097009",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "malonyl-CoA biosynthetic process",
"id": "GO:2001295",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001295",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "pentose-phosphate shunt",
"id": "GO:0006098",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006098",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "fatty acid oxidation",
"id": "GO:0019395",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
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},
{
"name": "response to xenobiotic stimulus",
"id": "GO:0009410",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "regulation of cardiac muscle hypertrophy in response to stress",
"id": "GO:1903242",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903242",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "tricarboxylic acid metabolic process",
"id": "GO:0072350",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072350",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "intracellular glutamate homeostasis",
"id": "GO:0090461",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090461",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "lactic acid secretion",
"id": "GO:0046722",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046722",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "intracellular aspartate homeostasis",
"id": "GO:0090459",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090459",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 5,
"go_terms": [
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "mitochondrion",
"id": "GO:0005739",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "mitochondrial outer membrane",
"id": "GO:0005741",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
},
{
"name": "mitochondrial fatty acid beta-oxidation multienzyme complex",
"id": "GO:0016507",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016507",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 1002,
"end_pos": 1004,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1071,
"end_pos": 1073,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 118,
"end_pos": 120,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1424,
"end_pos": 1426,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1581,
"end_pos": 1583,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1582,
"end_pos": 1584,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1653,
"end_pos": 1655,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 2017,
"end_pos": 2019,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 2402,
"end_pos": 2404,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 883,
"end_pos": 885,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Phosphorylation at Ser-222 by AMPK inactivates the enzyme (PubMed:12488245). Required for the maintenance of skeletal muscle lipid and glucose homeostasis (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
},
{
"database": "PubMed",
"id": "12488245",
"url": "https://glygen.org/publication/PubMed/12488245"
}
]
},
{
"annotation": "The biotin cofactor is covalently attached to the central biotinyl-binding domain and is required for the catalytic activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O00763",
"url": "https://www.uniprot.org/uniprot/O00763"
},
{
"database": "PubMed",
"id": "18247344",
"url": "https://glygen.org/publication/PubMed/18247344"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "11308",
"name": "",
"equation": "acetyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + malonyl-CoA + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11497-1",
"E9PSQ0-1",
"O00763-1",
"Q13085-1",
"E9Q4Z2-1",
"Q5SWU9-1",
"P32874-1",
"Q00955-1",
"Q54J08-1",
"A1Z784-1"
],
"evidence": [
{
"id": "11308",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/11308"
}
]
},
{
"id": "R-HSA-163743",
"name": "Transcriptional activation of Acetyl-CoA carboxylase by ChREBP:MLX",
"equation": "",
"summary": "At the end of this reaction, 1 molecule of 'Acetyl-CoA carboxylase 2 ' is present.
This reaction takes place in the 'nucleus' (Ma et al. 2006).
",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O00763-1",
"Q13085-1"
],
"evidence": [
{
"id": "R-HSA-163743",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163743"
}
]
},
{
"id": "R-HSA-1655830",
"name": "Expression of Acetyl CoA Carboxylase 2 (ACACB, ACC2)",
"equation": "",
"summary": "The ACACB gene is transcribed to yield mRNA and the mRNA is translated to yield protein.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-2393980"
],
"output_participant_list": [
"R-HSA-52493"
],
"enzyme_list": [
"O00763-1"
],
"evidence": [
{
"id": "R-HSA-1655830",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655830"
}
]
},
{
"id": "R-HSA-200423",
"name": "pAMPK inactivates ACACB, inhibiting malonyl-CoA synthesis",
"equation": "",
"summary": "Acetyl-CoA carboxylase 2 (ACACB, ACC2) is involved in the regulation of mitochondrial fatty acid oxidation through the inhibition of carnitine palmitoyltransferase 1 by its product malonyl-CoA. Phosphorylated AMPK inactivates ACACB in muscle cells by phosphorylation. This results in decreased levels of malonyl CoA, contributing to the homeostasis of mitochondrial beta oxidation (Ruderman & Prentki 2004).",
"cellular_location": "cytosol, mitochondrial outer membrane",
"input_participant_list": [
"R-HSA-8867341"
],
"output_participant_list": [
"R-HSA-8876893"
],
"enzyme_list": [
"O00763-1",
"P54646-1"
],
"evidence": [
{
"id": "R-HSA-200423",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200423"
}
]
},
{
"id": "R-HSA-4167501",
"name": "An unknown protease degrades ACACB",
"equation": "",
"summary": "Cytosolic acetyl-CoA carboxylases 1 and 2 (Btn-ACACA/B:2Mn2+) are degraded proteolytically to biocytin (BCTN aka biotinyl-lysine) or small biotinyl peptides (not shown here) by an unknown protease (Chandler & Ballard 1985, Hymes & Wolf 1996, Hymes & Wolf 1999).",
"cellular_location": "cytosol, mitochondrial outer membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O00763-1"
],
"evidence": [
{
"id": "R-HSA-4167501",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4167501"
}
]
},
{
"id": "R-HSA-4167511",
"name": "HLCS biotinylates ACACB",
"equation": "",
"summary": "Biotin (Btn) acts as a coenzyme for 5 carboxylases that exist in their inactive apo forms. In the cytosol and mitochondrion, these apo-carboxylases are biotinylated to their active holo forms by the activity of biotin protein ligase (HCLS) (Ingaramo & Beckett 2012, Bailey et al. 2010, Hiratsuka et al. 1998). Defects in HLCS causes holocarboxylase synthetase deficiency (HLCS deficiency aka early-onset multiple carboxylase deficiency; MIM:253270). HLCS deficiency is an autosomal recessive disorder whereby deficient HLCS activity results in reduced activity of all five carboxylases. Symptoms include metabolic acidosis, organic aciduria, lethargy, hypotonia, convulsions and dermatitis (Suzuki et al. 2005). The first committed step in the synthesis of fatty acids is performed by the biotin-dependent enzyme acetyl CoA carboxylase [EC 6.4.1.2]. Acetyl CoA carboxylases 1 and 2 (ACACA and ACACB) have one Btn moiety covalently attached to each subunit (Abu-Elheiga et al. 1995). Eukaryotic acetyl-CoA carboxylases are heterodimers that can form catalytically active extended oligomers (Weatherly et al. 2004). Unlike the other biotin-dependent carboxylases that reside inside the mitochondrion, ACACA and B are located in the cytosol and outer mitochondrial membrane (shown here) respectively (Abu-Elheiga et al. 2000).",
"cellular_location": "cytosol, mitochondrial outer membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O00763-1",
"P50747-1"
],
"evidence": [
{
"id": "R-HSA-4167511",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4167511"
}
]
},
{
"id": "R-HSA-8876889",
"name": "Btn-ACACB:2Mn2+ polymer carboxylates Ac-CoA to form Mal-CoA",
"equation": "",
"summary": "Mitochondrial acetyl-CoA carboxylase 2 (ACACB, ACC2) (Kim et al. 2007) catalyses the reaction of bicarbonate, ATP, and acetyl-CoA to form malonyl-CoA, ADP, and orthophosphate. The reaction is positively regulated by citrate. ACACB uses biotin (Btn) and two Mn2+ ions per subunit as cofactors and its activity is increased by polymerization (Kim et al. 2010, Ingaramo & Beckett 2012). ACACB is located on the outer mitochondrial membrane and is involved in the regulation of mitochondrial fatty acid oxidation through the inhibition of carnitine palmitoyltransferase 1 by its product malonyl-CoA (Abu-Elheiga et al. 2000).
Mid1-interacting protein 1 (MID1IP1, aka MIG12, SPOT14R, S14R) plays a role in the regulation of lipogenesis in the liver. It is rapidly upregulated by processes that induce lipogenesis (enhanced glucose metabolism, thyroid hormone administration) (Tsatsos et al. 2008). MID1IP1 forms a heterodimer with thyroid hormone-inducible hepatic protein (THRSP, aka SPOT14, S14), proposed to play the same role in lipogenesis as MID1IP1 (Aipoalani et al. 2010). This complex can polymerize acetyl-CoA carboxylases 1 and 2 (ACACA and B), the first committed enzymes in fatty acid (FA) synthesis. Polymerization enhances ACACA and ACACB enzyme activities (Kim et al. 2010).",
"cellular_location": "cytosol, mitochondrial outer membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O00763-1"
],
"evidence": [
{
"id": "R-HSA-8876889",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876889"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-2393980",
"participant_name": "ACACB gene [nucleoplasm]",
"crossref": [
{
"id": "ENSG00000076555",
"database": "ENSEMBL",
"url": ""
}
]
},
{
"participant_id": "R-HSA-52493",
"participant_name": "ACACB [cytosol]",
"crossref": [
{
"id": "3FF6",
"database": "PDB",
"url": ""
},
{
"id": "ACACB_HUMAN",
"database": "ZINC - Investigational",
"url": ""
},
{
"id": "2DN8",
"database": "PDB",
"url": ""
},
{
"id": "3JRW",
"database": "PDB",
"url": ""
},
{
"id": "O00763",
"database": "PRO",
"url": ""
},
{
"id": "ENSP00000341044",
"database": "Ensembl",
"url": ""
},
{
"id": "XP_005253933.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENST00000377848",
"database": "Ensembl",
"url": ""
},
{
"id": "O00763",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "XP_006719430.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSG00000076555",
"database": "OpenTargets",
"url": ""
},
{
"id": "3TDC",
"database": "PDB",
"url": ""
},
{
"id": "3GLK",
"database": "PDB",
"url": ""
},
{
"id": "2HJW",
"database": "PDB",
"url": ""
},
{
"id": "HMDBP00018",
"database": "HMDB Protein",
"url": ""
},
{
"id": "4HQ6",
"database": "PDB",
"url": ""
},
{
"id": "ACACB_HUMAN",
"database": "ZINC - Predictions - Purchasable",
"url": ""
},
{
"id": "NP_001084.3",
"database": "RefSeq",
"url": ""
},
{
"id": "ENST00000338432",
"database": "Ensembl",
"url": ""
},
{
"id": "5KKN",
"database": "PDB",
"url": ""
},
{
"id": "2KCC",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000076555-ACACB",
"database": "HPA",
"url": ""
},
{
"id": "O00763",
"database": "GeneCards",
"url": ""
},
{
"id": "3GID",
"database": "PDB",
"url": ""
},
{
"id": "O00763",
"database": "UniProt",
"url": ""
},
{
"id": "XP_011536561.1",
"database": "RefSeq",
"url": ""
},
{
"id": "O00763",
"database": "ZINC target",
"url": ""
},
{
"id": "ENSP00000367079",
"database": "Ensembl",
"url": ""
},
{
"id": "3JRX",
"database": "PDB",
"url": ""
},
{
"id": "ACACB_HUMAN",
"database": "ZINC - Substances",
"url": ""
},
{
"id": "ENSG00000076555",
"database": "Ensembl",
"url": ""
},
{
"id": "1264",
"database": "Guide to Pharmacology - Targets",
"url": ""
}
]
},
{
"participant_id": "R-HSA-8867341",
"participant_name": "Btn-ACACB:2Mn2+ polymer [mitochondrial outer membrane]",
"crossref": [
{
"id": "36080",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-HSA-8876893",
"participant_name": "Btn-p-S222-ACACB:2Mn2+ polymer [mitochondrial outer membrane]",
"crossref": [
{
"id": "36080",
"database": "ChEBI",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "A1Z784",
"gene_name": "ACC",
"activity": [
{
"ec_number": "6.4.1.2",
"activity": "acetyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + malonyl-CoA + phosphate.",
"evidence": [
{
"id": "A1Z784",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A1Z784"
}
]
}
]
},
{
"uniprot_ac": "E9PSQ0",
"gene_name": "Acacb",
"activity": [
{
"ec_number": "6.4.1.2",
"activity": "acetyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + malonyl-CoA + phosphate.",
"evidence": [
{
"id": "E9PSQ0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/E9PSQ0"
}
]
},
{
"ec_number": "6.4.1.2",
"activity": "",
"evidence": [
{
"id": "E9PSQ0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/E9PSQ0"
}
]
}
]
},
{
"uniprot_ac": "E9Q4Z2",
"gene_name": "Acacb",
"activity": [
{
"ec_number": "6.4.1.2",
"activity": "acetyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + malonyl-CoA + phosphate.",
"evidence": [
{
"id": "E9Q4Z2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/E9Q4Z2"
}
]
},
{
"ec_number": "6.4.1.2",
"activity": "",
"evidence": [
{
"id": "E9Q4Z2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/E9Q4Z2"
}
]
}
]
},
{
"uniprot_ac": "O00763",
"gene_name": "ACACB",
"activity": [
{
"ec_number": "6.4.1.2",
"activity": "acetyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + malonyl-CoA + phosphate.",
"evidence": [
{
"id": "O00763",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00763"
}
]
},
{
"ec_number": "6.4.1.2",
"activity": "",
"evidence": [
{
"id": "O00763",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00763"
}
]
}
]
},
{
"uniprot_ac": "P11497",
"gene_name": "Acaca",
"activity": [
{
"ec_number": "6.4.1.2",
"activity": "acetyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + malonyl-CoA + phosphate.",
"evidence": [
{
"id": "P11497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11497"
}
]
},
{
"ec_number": "6.4.1.2",
"activity": "",
"evidence": [
{
"id": "P11497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11497"
}
]
}
]
},
{
"uniprot_ac": "P32874",
"gene_name": "HFA1",
"activity": [
{
"ec_number": "6.3.4.14",
"activity": "ATP + hydrogencarbonate + N(6)-biotinyl-L-lysyl-[protein] = ADP + H(+) + N(6)-carboxybiotinyl-L-lysyl-[protein] + phosphate.",
"evidence": [
{
"id": "P32874",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P32874"
}
]
},
{
"ec_number": "6.4.1.2",
"activity": "acetyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + malonyl-CoA + phosphate.",
"evidence": [
{
"id": "P32874",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P32874"
}
]
},
{
"ec_number": "6.4.1.2",
"activity": "",
"evidence": [
{
"id": "P32874",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P32874"
}
]
}
]
},
{
"uniprot_ac": "P50747",
"gene_name": "HLCS",
"activity": [
{
"ec_number": "6.3.4.-",
"activity": "",
"evidence": [
{
"id": "P50747",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50747"
}
]
},
{
"ec_number": "6.3.4.15",
"activity": "ATP + biotin + L-lysyl-[protein] = AMP + diphosphate + H(+) + N(6)-biotinyl-L-lysyl-[protein].",
"evidence": [
{
"id": "P50747",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50747"
}
]
},
{
"ec_number": "6.3.4.10",
"activity": "apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] + ATP + biotin = AMP + diphosphate + H(+) + holo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)].",
"evidence": [
{
"id": "P50747",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50747"
}
]
},
{
"ec_number": "6.3.4.9",
"activity": "apo-[methylmalonyl-CoA:pyruvate carboxytransferase] + ATP + biotin = AMP + diphosphate + H(+) + holo-[methylmalonyl-CoA:pyruvate carboxytransferase].",
"evidence": [
{
"id": "P50747",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50747"
}
]
},
{
"ec_number": "6.3.4.11",
"activity": "apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] + ATP + biotin = AMP + diphosphate + H(+) + holo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)].",
"evidence": [
{
"id": "P50747",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50747"
}
]
}
]
},
{
"uniprot_ac": "P54646",
"gene_name": "PRKAA2",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "P54646",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P54646"
}
]
},
{
"ec_number": "2.7.11.31",
"activity": "ATP + L-seryl-[acetyl-CoA carboxylase] = ADP + H(+) + O-phospho-L-seryl-[acetyl-CoA carboxylase].",
"evidence": [
{
"id": "P54646",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P54646"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "P54646",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P54646"
}
]
}
]
},
{
"uniprot_ac": "Q00955",
"gene_name": "ACC1",
"activity": [
{
"ec_number": "6.4.1.2",
"activity": "acetyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + malonyl-CoA + phosphate.",
"evidence": [
{
"id": "Q00955",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q00955"
}
]
},
{
"ec_number": "6.3.4.14",
"activity": "ATP + hydrogencarbonate + N(6)-biotinyl-L-lysyl-[protein] = ADP + H(+) + N(6)-carboxybiotinyl-L-lysyl-[protein] + phosphate.",
"evidence": [
{
"id": "Q00955",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q00955"
}
]
},
{
"ec_number": "6.4.1.2",
"activity": "",
"evidence": [
{
"id": "Q00955",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q00955"
}
]
}
]
},
{
"uniprot_ac": "Q13085",
"gene_name": "ACACA",
"activity": [
{
"ec_number": "6.4.1.2",
"activity": "acetyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + malonyl-CoA + phosphate.",
"evidence": [
{
"id": "Q13085",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q13085"
}
]
},
{
"ec_number": "6.4.1.2",
"activity": "",
"evidence": [
{
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