{
"uniprot_canonical_ac": "O15516-1",
"uniprot_ac": "O15516",
"uniprot_id": "CLOCK_HUMAN",
"mass": {
"chemical_mass": 95304.0,
"monoisotopic_mass": 95304.0
},
"refseq": {
"ac": "NP_001254772",
"name": "circadian locomoter output cycles protein kaput",
"summary": "The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254772"
},
"gene_names": [
{
"name": "CLOCK",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O15516",
"id": "O15516"
},
{
"name": "BHLHE8",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O15516",
"id": "O15516"
},
{
"name": "CLOCK",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254772",
"id": "NP_001254772"
},
{
"name": "KIAA0334",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O15516",
"id": "O15516"
},
{
"name": "bHLHe8; KAT13D",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254772",
"id": "NP_001254772"
}
],
"protein_names": [
{
"name": "Circadian locomoter output cycles protein kaput",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O15516"
},
{
"name": "2.3.1.48",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O15516"
},
{
"name": "Class E basic helix-loop-helix protein 8",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O15516"
},
{
"name": "bHLHe8",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O15516"
},
{
"name": "circadian locomoter output cycles kaput protein; class E basic helix-loop-helix protein 8; clock homolog",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254772",
"id": "NP_001254772"
},
{
"name": "circadian locomoter output cycles protein kaput",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254772",
"id": "NP_001254772"
},
{
"name": "hCLOCK",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O15516"
}
],
"function": [
{
"annotation": "Clock genes regulate skeletal muscle energy metabolism through NAMPT/NAD[+]/SIRT1 following heavy-load exercise.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001254772",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254772"
},
{
"database": "PubMed",
"id": "37545421",
"url": "https://glygen.org/publication/PubMed/37545421"
}
]
},
{
"annotation": "Combined genotype of HCRTR2 and CLOCK variants in a large family of cluster headache with familial periodicity phenotype.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001254772",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254772"
},
{
"database": "PubMed",
"id": "37418013",
"url": "https://glygen.org/publication/PubMed/37418013"
}
]
},
{
"annotation": "Essential regulator of circadian rhythms",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001254772",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254772"
},
{
"database": "PubMed",
"id": "10198158",
"url": "https://glygen.org/publication/PubMed/10198158"
}
]
},
{
"annotation": "Population analysis of the CLOCK rs3749474T-rs4864548A haplotype and its relationship with obesity. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001254772",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254772"
},
{
"database": "PubMed",
"id": "37788403",
"url": "https://glygen.org/publication/PubMed/37788403"
}
]
},
{
"annotation": "Sex-dependent relationship of polymorphisms in CLOCK and REV-ERBalpha genes with body mass index and lipid levels in children. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001254772",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254772"
},
{
"database": "PubMed",
"id": "38092833",
"url": "https://glygen.org/publication/PubMed/38092833"
}
]
},
{
"annotation": "The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001254772",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254772"
}
]
},
{
"annotation": "Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. Regulates the circadian expression of ICAM1, VCAM1, CCL2, THPO and MPL and also acts as an enhancer of the transactivation potential of NF-kappaB. Plays an important role in the homeostatic regulation of sleep. The CLOCK-BMAL1 heterodimer regulates the circadian expression of SERPINE1/PAI1, VWF, B3, CCRN4L/NOC, NAMPT, DBP, MYOD1, PPARGC1A, PPARGC1B, SIRT1, GYS2, F7, NGFR, GNRHR, BHLHE40/DEC1, ATF4, MTA1, KLF10 and also genes implicated in glucose and lipid metabolism. Promotes rhythmic chromatin opening, regulating the DNA accessibility of other transcription factors. The CLOCK-BMAL2 heterodimer activates the transcription of SERPINE1/PAI1 and BHLHE40/DEC1. The preferred binding motif for the CLOCK-BMAL1 heterodimer is 5'-CACGTGA-3', which contains a flanking adenine nucleotide at the 3-prime end of the canonical 6-nucleotide E-box sequence (PubMed:23229515). CLOCK specifically binds to the half-site 5'-CAC-3', while BMAL1 binds to the half-site 5'-GTGA-3' (PubMed:23229515). The CLOCK-BMAL1 heterodimer also recognizes the non-canonical E-box motifs 5'-AACGTGA-3' and 5'-CATGTGA-3' (PubMed:23229515). CLOCK has an intrinsic acetyltransferase activity, which enables circadian chromatin remodeling by acetylating histones and nonhistone proteins, including its own partner BMAL1. Represses glucocorticoid receptor NR3C1/GR-induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) via the acetylation of multiple lysine residues located in its hinge region (PubMed:21980503). The acetyltransferase activity of CLOCK is as important as its transcription activity in circadian control. Acetylates metabolic enzymes IMPDH2 and NDUFA9 in a circadian manner. Facilitated by BMAL1, rhythmically interacts and acetylates argininosuccinate synthase 1 (ASS1) leading to enzymatic inhibition of ASS1 as well as the circadian oscillation of arginine biosynthesis and subsequent ureagenesis (PubMed:28985504). Drives the circadian rhythm of blood pressure through transcriptional activation of ATP1B1 (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516#function"
},
{
"database": "PubMed",
"id": "22284746",
"url": "https://glygen.org/publication/PubMed/22284746"
},
{
"database": "PubMed",
"id": "23229515",
"url": "https://glygen.org/publication/PubMed/23229515"
},
{
"database": "PubMed",
"id": "21980503",
"url": "https://glygen.org/publication/PubMed/21980503"
},
{
"database": "PubMed",
"id": "24005054",
"url": "https://glygen.org/publication/PubMed/24005054"
},
{
"database": "UniProtKB",
"id": "O08785",
"url": "https://www.uniprot.org/uniprot/O08785#function"
},
{
"database": "PubMed",
"id": "21659603",
"url": "https://glygen.org/publication/PubMed/21659603"
},
{
"database": "PubMed",
"id": "18587630",
"url": "https://glygen.org/publication/PubMed/18587630"
},
{
"database": "PubMed",
"id": "14645221",
"url": "https://glygen.org/publication/PubMed/14645221"
},
{
"database": "PubMed",
"id": "28985504",
"url": "https://glygen.org/publication/PubMed/28985504"
},
{
"database": "PubMed",
"id": "23785138",
"url": "https://glygen.org/publication/PubMed/23785138"
}
]
}
],
"disease": [],
"snv": [
{
"evidence": [
{
"id": "O15516",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15516"
}
],
"glycoeffect": [],
"start_pos": 120,
"end_pos": 120,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "G",
"sequence_mut": "V",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "4",
"chr_pos": "55470796",
"ref_nt": "C",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "G120",
"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": ""
}
]
},
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectum neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "CRC",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "large intestine cancer",
"description": ""
},
{
"id": "MIM:114500",
"resource": "MIM",
"url": "https://www.omim.org/entry/114500",
"name": "Colorectal cancer",
"description": "Colorectal cancer"
}
]
},
{
"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"
}
]
}
],
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"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs754677863",
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},
{
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},
{
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"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs754677863"
}
],
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"o-glyco-site-loss"
],
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"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVT->NVT).",
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"chr_pos": "55470745",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
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"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs191090203",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs191090203"
},
{
"id": "rs191090203",
"database": "1000Genomes",
"url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs191090203"
},
{
"id": "rs191090203",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs191090203"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 17,
"end_pos": 17,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDS->NDS).",
"chr_id": "4",
"chr_pos": "55479698",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "0.0002",
"site_lbl": "D17",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs565535154",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565535154"
},
{
"id": "rs565535154",
"database": "1000Genomes",
"url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565535154"
},
{
"id": "rs565535154",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565535154"
},
{
"id": "rs565535154",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs565535154"
}
],
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"n-glyco-sequon-gain"
],
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"sequence_org": "P",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLP->NLT).",
"chr_id": "4",
"chr_pos": "55448802",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "0.0002",
"site_lbl": "P506",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs898273156",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs898273156"
},
{
"id": "rs898273156",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs898273156#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 607,
"end_pos": 607,
"sequence_org": "I",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQI->NQS).",
"chr_id": "4",
"chr_pos": "55443769",
"ref_nt": "C",
"alt_nt": "null",
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"site_lbl": "I607",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs751788165",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751788165"
},
{
"id": "rs751788165",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751788165"
},
{
"id": "rs751788165",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs751788165"
}
],
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"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
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"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SCS->NCS).",
"chr_id": "4",
"chr_pos": "55482769",
"ref_nt": "T",
"alt_nt": "null",
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"site_lbl": "S6",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "O15516",
"database": "BioMuta",
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}
],
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],
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"end_pos": 711,
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"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "T",
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"comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->A).",
"chr_id": "4",
"chr_pos": "55438512",
"ref_nt": "T",
"alt_nt": "C",
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"site_lbl": "T711",
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{
"disease_id": "DOID:1793",
"recommended_name": {
"id": "DOID:1793",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1793",
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},
"synonyms": [
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1793",
"name": "Ca body of pancreas",
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},
{
"id": "DOID:1793",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1793",
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},
{
"id": "DOID:1793",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1793",
"name": "Ca tail of pancreas",
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},
{
"id": "DOID:1793",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1793",
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},
{
"id": "DOID:1793",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1793",
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},
{
"id": "DOID:1793",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1793",
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},
{
"id": "DOID:1793",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1793",
"name": "pancreas neoplasm",
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},
{
"id": "DOID:1793",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1793",
"name": "pancreatic neoplasm",
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},
{
"id": "DOID:1793",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1793",
"name": "pancreatic tumor",
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}
]
}
],
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"cancer",
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]
}
],
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{
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"end_pos": 116,
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{
"database": "UniProtKB",
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{
"database": "PubMed",
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]
},
{
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
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{
"database": "PubMed",
"id": "16474406",
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}
]
},
{
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{
"database": "UniProtKB",
"id": "O15516",
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{
"database": "PubMed",
"id": "16474406",
"url": "https://glygen.org/publication/PubMed/16474406"
}
]
},
{
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"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
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{
"database": "PubMed",
"id": "16474406",
"url": "https://glygen.org/publication/PubMed/16474406"
}
]
},
{
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
},
{
"database": "PubMed",
"id": "23229515",
"url": "https://glygen.org/publication/PubMed/23229515"
}
]
},
{
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"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
},
{
"database": "PubMed",
"id": "23229515",
"url": "https://glygen.org/publication/PubMed/23229515"
}
]
},
{
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"end_pos": 451,
"sequence_org": "T",
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"comment": "Significant loss in phosphorylation.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
},
{
"database": "PubMed",
"id": "24235147",
"url": "https://glygen.org/publication/PubMed/24235147"
}
]
},
{
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"end_pos": 461,
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"comment": "Significant loss in phosphorylation.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
},
{
"database": "PubMed",
"id": "24235147",
"url": "https://glygen.org/publication/PubMed/24235147"
}
]
},
{
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"sequence_org": "F",
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"comment": "No effect on BMAL1 binding.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
},
{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/23229515"
}
]
},
{
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{
"database": "UniProtKB",
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"url": "https://www.uniprot.org/uniprot/O15516"
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{
"database": "PubMed",
"id": "16474406",
"url": "https://glygen.org/publication/PubMed/16474406"
}
]
},
{
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
},
{
"database": "PubMed",
"id": "16474406",
"url": "https://glygen.org/publication/PubMed/16474406"
}
]
},
{
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{
"database": "UniProtKB",
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"url": "https://www.uniprot.org/uniprot/O15516"
},
{
"database": "PubMed",
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"url": "https://glygen.org/publication/PubMed/23229515"
}
]
}
],
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{
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"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
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{
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},
{
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"present": "MEDIUM",
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000134852"
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]
},
{
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"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
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},
{
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"present": "MEDIUM",
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"database": "Bgee",
"id": "ENSG00000134852",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000134852"
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]
},
{
"tissue": {
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"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
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"evidence": [
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]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "81.54",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000134852",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000134852"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "77.97",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000134852",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000134852"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "86.4",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000134852",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000134852"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "77.49",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000134852",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000134852"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "78.39",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000134852",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000134852"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "O15516",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15516"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O15516",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15516"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "O15516",
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}
],
"disease": [
{
"disease_id": "DOID:11054",
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"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
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},
"synonyms": [
{
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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",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
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},
{
"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",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"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",
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"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the bladder",
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},
{
"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",
"resource": "MONDO",
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"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
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},
{
"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",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumor of urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant tumour of bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumour of the bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumour of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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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",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "urinary bladder malignant neoplasm",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "urinary bladder malignant tumour",
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},
{
"id": "MIM:109800",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
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{
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],
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{
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{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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}
]
}
]
},
{
"significant": "No",
"trend": "up",
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{
"database": "BioXpress",
"id": "O15516",
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],
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{
"disease_id": "DOID:1324",
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},
"synonyms": [
{
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},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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},
{
"id": "MONDO:0012159",
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"url": "https://monarchinitiative.org/disease/MONDO:0012159",
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},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
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},
{
"id": "MONDO:0012942",
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"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
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"name": "adenocarcinoma of lung, susceptibility to",
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},
{
"id": "MONDO:0012955",
"resource": "MONDO",
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},
{
"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",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
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},
{
"id": "MONDO:0013631",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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},
{
"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",
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"name": "adenocarcinoma of lung, somatic",
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},
{
"id": "MONDO:0008903",
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"name": "cancer of lung",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
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"name": "lung cancer, somatic",
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},
{
"id": "MONDO:0008903",
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"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
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},
{
"id": "MONDO:0008903",
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"name": "malignant lung tumour",
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},
{
"id": "MONDO:0008903",
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"name": "malignant neoplasm of lung",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O15516",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15516"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O15516",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15516"
}
],
"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": "O15516",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15516"
}
],
"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": "O15516",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15516"
}
],
"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": "O15516",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15516"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O15516",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15516"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"title": "Overlapping but distinct patterns of histone acetylation by the human coactivators p300 and PCAF within nucleosomal substrates.",
"journal": "The Journal of biological chemistry",
"date": "1999",
"authors": "Schiltz RL, Mizzen CA, Vassilev A, Cook RG, Allis CD, Nakatani Y",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-3214847",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847"
}
],
"reference": [
{
"type": "PubMed",
"id": "9880483",
"url": "https://glygen.org/publication/PubMed/9880483"
}
]
}
],
"pathway": [
{
"id": "hsa:9575",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9575",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-1368108",
"name": "BMAL1:CLOCK,NPAS2 activates circadian gene expression",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108",
"resource": "Reactome",
"description": "BMAL1:CLOCK,NPAS2 activates circadian gene expression"
},
{
"id": "R-HSA-1989781",
"name": "PPARA activates gene expression",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781",
"resource": "Reactome",
"description": "PPARA activates gene expression"
},
{
"id": "R-HSA-3214847",
"name": "HATs acetylate histones",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847",
"resource": "Reactome",
"description": "HATs acetylate histones"
},
{
"id": "R-HSA-400253",
"name": "Circadian Clock",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253",
"resource": "Reactome",
"description": "Circadian Clock"
},
{
"id": "R-HSA-9707616",
"name": "Heme signaling",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707616",
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"description": "Heme signaling"
}
],
"orthologs": [
{
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"protein_name": "Circadian locomoter output cycles protein kaput",
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"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MVFTVSCSKMSSIVDRDDSSIFDGLVEEDDKDKAKRVSRNKSEKKRRDQFNVLIKELGSMLPGNARKMDKSTVLQKSIDFLRKHKETTAQSDASEIRQDWKPTFLSNEEFTQLMLEALDGFFLAIMTDGSIIYVSESVTSLLEHLPSDLVDQSIFNFIPEGEHSEVYKILSTHLLESDSLTPEYLKSKNQLEFCCHMLRGTIDPKEPSTYEYVRFIGNFKSLTSVSTSTHNGFEGTIQRTHRPSYEDRVCFVATVRLATPQFIKEMCTVEEPNEEFTSRHSLEWKFLFLDHRAPPIIGYLPFEVLGTSGYDYYHVDDLENLAKCHEHLMQYGKGKSCYYRFLTKGQQWIWLQTHYYITYHQWNSRPEFIVCTHTVVSYAEVRAERRRELGIEESLPETAADKSQDSGSDNRINTVSLKEALERFDHSPTPSASSRSSRKSSHTAVSDPSSTPTKIPTDTSTPPRQHLPAHEKMTQRRSSFSSQSINSQSVGPSLTQPAMSQAANLPIPQGMSQFQFSAQLGAMQHLKDQLEQRTRMIEANIHRQQEELRKIQEQLQMVHGQGLQMFLQQSNPGLNFGSVQLSSGNSNIQQLTPVNMQGQVVPANQVQSGHISTGQHMIQQQTLQSTSTQQSQQSVMSGHSQQTSLPSQTPSTLTAPLYNTMVISQPAAGSMVQIPSSMPQNSTQSATVTTFTQDRQIRFSQGQQLVTKLVTAPVACGAVMVPSTMLMGQVVTAYPTFATQQQQAQTLSVTQQQQQQQQQPPQQQQQQQQSSQEQQLPSVQQPAQAQLGQPPQQFLQTSRLLHGNPSTQLILSAAFPLQQSTFPPSHHQQHQPQQQQQLPRHRTDSLTDPSKVQPQ",
"length": 855
},
"evidence": [
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"id": "45917475",
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},
{
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"database": "OMA"
}
],
"common_name": "Mouse"
},
{
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"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
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"length": 862
},
"evidence": [
{
"id": "45917475",
"url": "http://www.informatics.jax.org/homology/45917475",
"database": "MGI"
}
],
"common_name": "Rat"
}
],
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"categories": [
{
"name": "Molecular Function",
"total": 11,
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{
"name": "DNA binding",
"id": "GO:0003677",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "protein dimerization activity",
"id": "GO:0046983",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "DNA-binding transcription factor activity, RNA polymerase II-specific",
"id": "GO:0000981",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "DNA-binding transcription factor activity",
"id": "GO:0003700",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding",
"id": "GO:0000978",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "chromatin DNA binding",
"id": "GO:0031490",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "sequence-specific DNA binding",
"id": "GO:0043565",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "DNA-binding transcription activator activity, RNA polymerase II-specific",
"id": "GO:0001228",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "E-box binding",
"id": "GO:0070888",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "histone acetyltransferase activity",
"id": "GO:0004402",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004402",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "sequence-specific double-stranded DNA binding",
"id": "GO:1990837",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 10,
"go_terms": [
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "transcription regulator complex",
"id": "GO:0005667",
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"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "CLOCK-BMAL transcription complex",
"id": "GO:1990513",
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{
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"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "nucleoplasm",
"id": "GO:0005654",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654",
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{
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"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "cytosol",
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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
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"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "intracellular membrane-bounded organelle",
"id": "GO:0043231",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "chromatin",
"id": "GO:0000785",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785",
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"id": "O15516",
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}
],
"pmid": ""
},
{
"name": "chromosome",
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"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "chromatoid body",
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"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
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"name": "DNA damage response",
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"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "circadian regulation of gene expression",
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"id": "O15516",
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}
],
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},
{
"name": "regulation of transcription by RNA polymerase II",
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"id": "O15516",
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}
],
"pmid": ""
},
{
"name": "signal transduction",
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{
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"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "spermatogenesis",
"id": "GO:0007283",
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"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "positive regulation of NF-kappaB transcription factor activity",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "response to redox state",
"id": "GO:0051775",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051775",
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"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "regulation of DNA-templated transcription",
"id": "GO:0006355",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "negative regulation of DNA-templated transcription",
"id": "GO:0045892",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "proteasome-mediated ubiquitin-dependent protein catabolic process",
"id": "GO:0043161",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "positive regulation of DNA-templated transcription",
"id": "GO:0045893",
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{
"database": "UniProtKB",
"id": "O15516",
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}
],
"pmid": ""
},
{
"name": "regulation of insulin secretion",
"id": "GO:0050796",
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"id": "O15516",
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}
],
"pmid": ""
},
{
"name": "circadian rhythm",
"id": "GO:0007623",
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"database": "UniProtKB",
"id": "O15516",
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}
],
"pmid": ""
},
{
"name": "positive regulation of inflammatory response",
"id": "GO:0050729",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "regulation of circadian rhythm",
"id": "GO:0042752",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "cellular response to ionizing radiation",
"id": "GO:0071479",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "DNA damage checkpoint signaling",
"id": "GO:0000077",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077",
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{
"database": "UniProtKB",
"id": "O15516",
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}
],
"pmid": ""
},
{
"name": "protein acetylation",
"id": "GO:0006473",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "positive regulation of circadian rhythm",
"id": "GO:0042753",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "regulation of hair cycle",
"id": "GO:0042634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042634",
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{
"database": "UniProtKB",
"id": "O15516",
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}
],
"pmid": ""
},
{
"name": "regulation of type B pancreatic cell development",
"id": "GO:2000074",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000074",
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{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "negative regulation of glucocorticoid receptor signaling pathway",
"id": "GO:2000323",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000323",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
},
{
"name": "photoperiodism",
"id": "GO:0009648",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009648",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
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{
"start_pos": 40,
"end_pos": 42,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 585,
"end_pos": 587,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 685,
"end_pos": 687,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Phosphorylation is dependent on the CLOCK-BMAL1 heterodimer formation. Phosphorylation enhances the transcriptional activity, alters the subcellular localization and decreases the stability of the heterodimer by promoting its degradation. Phosphorylation shows circadian variations in the liver. May be phosphorylated by CSNK1D and CKSN1E.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
},
{
"database": "PubMed",
"id": "24235147",
"url": "https://glygen.org/publication/PubMed/24235147"
}
]
},
{
"annotation": "Sumoylation enhances its transcriptional activity and interaction with ESR1, resulting in up-regulation of ESR1 activity. Estrogen stimulates sumoylation. Desumoylation by SENP1 negatively regulates its transcriptional activity. Sumoylation stimulates cell proliferation and increases the proportion of S phase cells in breast cancer cell lines.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15516",
"url": "https://www.uniprot.org/uniprot/O15516"
},
{
"database": "PubMed",
"id": "23160374",
"url": "https://glygen.org/publication/PubMed/23160374"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "45948",
"name": "",
"equation": "acetyl-CoA + L-lysyl-[protein] = CoA + H(+) + N(6)-acetyl-L-lysyl-[protein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q6JHU9-1",
"Q9WVS9-1",
"Q9EPU2-1",
"Q9QXS4-1",
"Q3MHC1-1",
"Q5TKR9-1",
"Q5XI06-1",
"P62916-1",
"Q5M939-1",
"A0A8I6GLZ3-1",
"D4ACX5-1",
"Q99MK2-1",
"Q00972-1",
"A0A8I5Y222-1",
"Q6DGG1-1",
"Q92793-1",
"Q9Y6F8-1",
"O15516-1",
"Q9H7Z6-1",
"Q9Y6F7-1",
"Q56NI9-1",
"Q5FWF5-1",
"Q09472-1",
"O14929-1",
"Q92831-1",
"Q8WYB5-1",
"Q92794-1",
"Q92830-1",
"Q15788-1",
"Q9Y6Q9-1",
"Q9H7X0-1",
"Q9UKN8-1",
"Q92993-1",
"Q00403-1",
"P21675-2",
"Q96IU4-1",
"Q9JIY8-1",
"Q9DBU2-1",
"O08785-1",
"P45481-1",
"Q9WTK2-1",
"Q8CIB9-1",
"B2RWS6-1",
"Q69Z69-1",
"Q8CHK4-1",
"Q9JHD2-1",
"Q8BY71-1",
"Q8BZ21-1",
"Q8BRB7-1",
"Q5SVQ0-1",
"Q9JHD1-1",
"Q9D1P2-1",
"P70365-1",
"O09000-1",
"P62915-1",
"Q8BMQ2-1",
"Q80UV9-1",
"E0CYR6-1",
"Q8VCR7-1",
"P46677-1",
"Q07794-1",
"Q08649-1",
"P39979-1",
"Q06592-1",
"Q12341-1",
"P34218-1",
"P40963-1",
"Q03330-1",
"B0G130-1",
"Q869X7-1",
"Q86J12-1",
"Q869X5-1",
"Q960X4-1",
"Q95SX8-1",
"Q9W1A9-1",
"O02193-1",
"Q0KIB3-1",
"Q9VAV6-1"
],
"evidence": [
{
"id": "45948",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/45948"
}
]
},
{
"id": "R-HSA-1368119",
"name": "Expression of CLOCK",
"equation": "",
"summary": "The CLOCK gene is transcribed to yield mRNA and the mRNA is translated to yield CLOCK protein (Steeves et al. 1999, Ueda et al. 2005, also inferred from mouse homologs). Transcription of CLOCK is repressed by REV-ERBA. The promoter of CLOCK contains an RRE element that may bind REV-ERBA and RORA.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-5640211"
],
"output_participant_list": [
"R-HSA-400392"
],
"enzyme_list": [
"Q96EB6-1",
"O15379-1",
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-1368119",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368119"
}
]
},
{
"id": "R-HSA-1368133",
"name": "Expression of RORA (ROR-alpha)",
"equation": "",
"summary": "The RORA gene is transcribed to yield mRNA and the mRNA is transcribed to yield RORA protein (Giguere et al. 1994, also inferred from mouse homologs).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-5640202"
],
"output_participant_list": [
"R-HSA-400325"
],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-1368133",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368133"
}
]
},
{
"id": "R-HSA-1368889",
"name": "Expression of NAMPT (NamPRT, PBEF, Visfatin)",
"equation": "",
"summary": "As inferred from mouse, the BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds an E-box element in the promoter of the NAMPT gene and enhances transcription.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-5641210"
],
"output_participant_list": [
"R-HSA-197188"
],
"enzyme_list": [
"P43490-1",
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-1368889",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368889"
}
]
},
{
"id": "R-HSA-3697920",
"name": "CLOCK acetylates lysine-10 of histone H3, H4",
"equation": "",
"summary": "CLOCK is a central element of the core clock mechanism that governs circadian rhythms. It has intrinsic histone acetyltransferase (HAT) activity which regulates the transcription of many clock-controlled genes (Doi et al. 2006, Hirayama et al. 2007). The carboxy-terminal region of CLOCK displays significant sequence homology with the carboxy-terminal domain of NCOA3 (ACTR), which also has intrinsic HAT activity (Chen et al. 1997). CLOCK acetylates histones H3 and H4 with greatest activity at H3K14, lesser activity at H3K9, but does not acetylate H2A and H2B (Doi et al. 2006 and Nakahata et al. 2007).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-3697920",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3697920"
}
]
},
{
"id": "R-HSA-400228",
"name": "BMAL1 binds CLOCK,NPAS2 forming BMAL1:CLOCK,NPAS2 heterodimer",
"equation": "",
"summary": "BMAL1 (ARNTL), CLOCK, and NPAS2 are basic helix-loop-helix transcription factors. In humans BMAL1 has been demonstrated to form a heterodimer with CLOCK. In mouse, BMAL1 can form a heterodimer with either CLOCK or NPAS2. By analogy with other basic helix-loop-helix proteins the basic domain binds DNA, in this case the E-box motif, and the helix-loop-helix domains interact to form the heterodimer. BMAL1 and CLOCK/NPAS2 are codependently phosphorylated by unknown kinases after dimerization. The phosphorylation enhances transactivation activity and is inhibited by PER:CRY complexes. Both CLOCK and NPAS2 are expressed in the suprachiasmatic nucleus of the hypothalamus and act redundantly there. The tissue distributions of CLOCK and NPAS2 do not entirely overlap, however. For example, NPAS2 but not CLOCK is found in forebrain.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-400228",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400228"
}
]
},
{
"id": "R-HSA-400256",
"name": "CRY:PER heterodimer binds the BMAL1:CLOCK/NPAS2 heterodimer",
"equation": "",
"summary": "CRY (CRY1 and CRY2) and PER (PER1, PER2, PER3) proteins form complex in the cytoplasm where they are phosphorylated by CSNK1D and CSNK1E kinases. CRY:PER complexes appear to form stable complexes with a kinase. Because of the nuclear localization signals of PER and CRY, the complexes are translocated to the nucleus where they bind BMAL1:CLOCK/NPAS2 (ARNTL:CLOCK/NPAS2) heterodimers and inhibit the transactivation activity of BMAL1:CLOCK/NPAS2.
CRY and PER proteins are themselves transcriptionally activated by BMAL1:CLOCK/NPAS2 thus they participate in a negative loop inhibiting their own synthesis and the synthesis of other targets of BMAL1:CLOCK/NPAS2.
Experiments with two-hybrid interactions and in vitro associations show that CRY1, CRY2, and PER2 bind BMAL1 at two different sites on BMAL1. PER2 but not CRY1 or CRY2 binds CLOCK. Different combinations of PER and CRY proteins in PER:CRY complexes have different inhibitory activities.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P48730-1",
"P49674-1",
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-400256",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400256"
}
]
},
{
"id": "R-HSA-421320",
"name": "BMAL1:CLOCK,NPAS2 heterodimer is phosphorylated and translocates to the nucleus",
"equation": "",
"summary": "As inferred from mouse, BMAL1 (ARNTL), CLOCK, and NPAS2 are phosphorylated by unknown kinases. The phosphorylation is dependent on the heterodimerization of BMAL1 with CLOCK or NPAS2. Phosphorylated BMAL1:CLOCK/NPAS2 is a much stronger transactivator of gene expression than is unphosphorylated BMAL1:CLOCK/NPAS2.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-421320",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-421320"
}
]
},
{
"id": "R-HSA-5144542",
"name": "CLOCK acetylates lysine-15 of histone H3, H4",
"equation": "",
"summary": "CLOCK is a central element of the core clock mechanism that governs circadian rhythms. It has intrinsic histone acetyltransferase (HAT) activity which regulates the transcription of many clock-controlled genes (Doi et al. 2006, Hirayama et al. 2007). The carboxy-terminal region of CLOCK displays significant sequence homology with the carboxy-terminal domain of NCOA3 (ACTR), which also has intrinsic HAT activity (Chen et al. 1997). CLOCK acetylates histones H3 and H4 with greatest activity at H3K14, lesser activity at H3K9, but does not acetylate H2A and H2B (Doi et al. 2006 and Nakahata et al. 2007).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5144542",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5144542"
}
]
},
{
"id": "R-HSA-549355",
"name": "CRY proteins stabilize unphosphorylated BMAL1:CLOCK,NPAS2",
"equation": "",
"summary": "CRY1 and CRY2 bind the unphosphorylated BMAL1:CLOCK (ARNTL:CLOCK) heterodimer (and by homology the BMAL1:NPAS2 (ARNTL:NPAS2) heterodimer) and prolong its half-life. The unphosphorylated BMAL1:CLOCK heterodimer only weakly activates transcription and is therefore believed to competitively reduce transcription by phosphorylated BMAL1:CLOCK heterodimer. The complex of unphosphorylated BMAL1:CLOCK with CRY may contain additional components and may traffic into the nucleus.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-549355",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549355"
}
]
},
{
"id": "R-HSA-549364",
"name": "Expression of SERPINE1 (PAI-1)",
"equation": "",
"summary": "The phosphorylated BMAL1:CLOCK (ARNTL) heterodimer binds an E-box in the promoter of the PAI-1 gene and activate transcription of PAI-1. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "extracellular region, nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-549364",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549364"
}
]
},
{
"id": "R-HSA-549424",
"name": "Expression of CCRN4L (NOCTURNIN)",
"equation": "",
"summary": "The NOCTURNIN gene is transcribed to yield mRNA and the mRNA is translated to yield protein. The NOCTURNIN gene shows circadian expression because the BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds an E-box element in the NOCTURNIN promoter and activates transcription.",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-5641223"
],
"output_participant_list": [
"R-HSA-508391"
],
"enzyme_list": [
"Q9UK39-1",
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-549424",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549424"
}
]
},
{
"id": "R-HSA-549428",
"name": "Expression of FACTOR VII (F7)",
"equation": "",
"summary": "Activation of FACTOR VII expression by phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) is inferred from mouse. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "endoplasmic reticulum lumen, nucleoplasm",
"input_participant_list": [
"R-HSA-5641222"
],
"output_participant_list": [
"R-HSA-159848"
],
"enzyme_list": [
"O15516-1",
"P08709-1"
],
"evidence": [
{
"id": "R-HSA-549428",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549428"
}
]
},
{
"id": "R-HSA-549467",
"name": "Expression of CRYPTOCHROME-1",
"equation": "",
"summary": "The phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds an E-box in the promoter of the CRY1 gene and activates transcription of CRY1. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-5641225"
],
"output_participant_list": [
"R-HSA-400247"
],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-549467",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549467"
}
]
},
{
"id": "R-HSA-549475",
"name": "Expression of NR1D1 (REV-ERBA)",
"equation": "",
"summary": "As inferred from mouse, RORA binds RRE DNA elements and recruits the coactivators PGC-1alpha (PPARGC1A) and p300 (EP300, a histone acetylase). RORA binds the NR1D1 (REV-ERBA) promoter and activates transcription.",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-5641202"
],
"output_participant_list": [
"R-HSA-375499"
],
"enzyme_list": [
"O15379-1",
"Q09472-1",
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-549475",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549475"
}
]
},
{
"id": "R-HSA-549493",
"name": "Expression of PERIOD-2",
"equation": "",
"summary": "As inferred from mouse, the phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds a noncanonical E-box in the promoter of the PER2 gene and activates transcription of PER2. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-5641227"
],
"output_participant_list": [
"R-HSA-400399"
],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-549493",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549493"
}
]
},
{
"id": "R-HSA-549533",
"name": "Expression of PERIOD-1",
"equation": "",
"summary": "The phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds E-boxes in the promoter of the PER1 gene and activates transcription of PER1. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-5641209"
],
"output_participant_list": [
"R-HSA-400373"
],
"enzyme_list": [
"P57059-1",
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-549533",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549533"
}
]
},
{
"id": "R-HSA-5663105",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds BHLHE41 (DEC2) gene",
"equation": "",
"summary": "As inferred from mouse, the BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds E-box elements in the promoter of the DEC2 (BHLHE41, BHLHB3) gene and activates transcription of DEC2.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663105",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663105"
}
]
},
{
"id": "R-HSA-5663118",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds PER2 gene",
"equation": "",
"summary": "As inferred from mouse, the phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds a noncanonical E-box in the promoter of the PER2 gene and activates transcription of PER2. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663118",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663118"
}
]
},
{
"id": "R-HSA-5663120",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds CRY1 gene",
"equation": "",
"summary": "The phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds an E-box in the promoter of the CRY1 gene and activates transcription of CRY1. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663120",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663120"
}
]
},
{
"id": "R-HSA-5663122",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds NAMPT gene",
"equation": "",
"summary": "As inferred from mouse, the BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds an E-box element in the promoter of the NAMPT gene and enhances transcription.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663122",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663122"
}
]
},
{
"id": "R-HSA-5663124",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds SERPINE1 gene",
"equation": "",
"summary": "The phosphorylated BMAL1:CLOCK (ARNTL) heterodimer binds an E-box in the promoter of the PAI-1 gene and activate transcription of PAI-1. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663124",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663124"
}
]
},
{
"id": "R-HSA-5663127",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds F7 gene",
"equation": "",
"summary": "Activation of FACTOR VII expression by phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) is inferred from mouse. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663127",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663127"
}
]
},
{
"id": "R-HSA-5663132",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds DBP gene",
"equation": "",
"summary": "As inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) heterodimers bind E-boxes in the promoter of the DBP gene and activate transcription of DBP.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663132",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663132"
}
]
},
{
"id": "R-HSA-5663138",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds CCRN4L (NOCTURNIN) gene",
"equation": "",
"summary": "The phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds an E-box element in the promoter of the NOCTURNIN gene and activates transcription of NOCTURNIN. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663138",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663138"
}
]
},
{
"id": "R-HSA-5663155",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds NR1D1 gene",
"equation": "",
"summary": "Activation of NR1D1 (REV-ERBA) expression by phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) is inferred from mouse. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663155",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663155"
}
]
},
{
"id": "R-HSA-5663156",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds PPARA gene",
"equation": "",
"summary": "As inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) heterodimers bind E-boxes in the second intron of the PPARA gene and activate transcription of PPARA.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663156",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663156"
}
]
},
{
"id": "R-HSA-5663165",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds AVP gene",
"equation": "",
"summary": "As inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) heterodimers bind an E-box enhancer in the AVP promoter and activate transcription of AVP.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663165",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663165"
}
]
},
{
"id": "R-HSA-5663170",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds BHLHE40 gene",
"equation": "",
"summary": "BMAL1:CLOCK (ARNTL:CLOCK) heterodimers bind E-boxes in the promoter of the DEC1 (BHLHE40, BHLHB2) gene and activate transcription of DEC1.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663170",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663170"
}
]
},
{
"id": "R-HSA-5663174",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds PER1 gene",
"equation": "",
"summary": "The phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds E-boxes in the promoter of the PER1 gene and activates transcription of PER1. NPAS2 is predicted to act redundantly with CLOCK.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5663174",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663174"
}
]
},
{
"id": "R-HSA-5669302",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds RORA gene",
"equation": "",
"summary": "As inferred from mouse homologs, the p-BMAL1:p-CLOCK,NPAS2 heterodimer binds the promoter of the RORA gene and activates transcription.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-5669302",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669302"
}
]
},
{
"id": "R-HSA-879724",
"name": "Expression of PPARA",
"equation": "",
"summary": "The PPARA gene is transcribed to yield mRNA and the mRNA is translated to yield protein. As inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) heterodimers bind E-box elements in the second intron of the PPARA gene and activate transcription of PPARA.",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-5640195"
],
"output_participant_list": [
"R-HSA-400186"
],
"enzyme_list": [
"Q15788-1",
"Q92793-1",
"O15516-1",
"Q96RS0-1",
"Q86X55-3",
"Q3L8U1-1",
"Q9BYK8-1"
],
"evidence": [
{
"id": "R-HSA-879724",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-879724"
}
]
},
{
"id": "R-HSA-879762",
"name": "Expression of DBP",
"equation": "",
"summary": "The DBP gene is transcribed to yield mRNA and the mRNA is translated to yield protein. As inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) heterodimers bind E-boxes in the DBP promoter and activate transcription of DBP.",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-5641228"
],
"output_participant_list": [
"R-HSA-879796"
],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-879762",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-879762"
}
]
},
{
"id": "R-HSA-879770",
"name": "Expression of DEC2 (BHLHE41, BHLHB3)",
"equation": "",
"summary": "The DEC2 (BHLHE41, BHLHB3) gene is transcribed to yield mRNA and the mRNA is translated to yield protein. As inferred from mouse, the BMAL1:CLOCK (ARNTL:CLOCK) heterodimer binds E-box elements in the DEC2 promoter and activates transcription of DEC2.",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-5641212"
],
"output_participant_list": [
"R-HSA-879703"
],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-879770",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-879770"
}
]
},
{
"id": "R-HSA-879782",
"name": "Expression of AVP",
"equation": "",
"summary": "The AVP gene is transcribed to yield mRNA and the mRNA is translated to yield protein. As inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) heterodimers bind an E-box enhancer in the promoter of the AVP gene and activate transcription of AVP.",
"cellular_location": "extracellular region, nucleoplasm",
"input_participant_list": [
"R-HSA-5641219"
],
"output_participant_list": [
"R-HSA-388474"
],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-879782",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-879782"
}
]
},
{
"id": "R-HSA-879798",
"name": "Expression of DEC1 (BHLHE40, BHLHB2)",
"equation": "",
"summary": "The DEC1 (BHLHE40, BHLHB2) gene is transcribed to yield mRNA and the mRNA is translated to yield protein. The DEC1 gene contains E-box elements in its promoter which bind the BMAL:CLOCK (ARNTL:CLOCK) heterodimer and confer circadian rhythm on its expression.",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-5641211"
],
"output_participant_list": [
"R-HSA-879741"
],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-879798",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-879798"
}
]
},
{
"id": "R-HSA-8878679",
"name": "Expression of KLF15",
"equation": "",
"summary": "The KLF15 gene is transcribed to yield mRNA and the mRNA is translated to yield protein. Transcription of KLF15 exhibits a circadian rhythm due to regulation by BMAL1:CLOCK (inferred from mouse homologs).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-8878727"
],
"output_participant_list": [
"R-HSA-8878735"
],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-8878679",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8878679"
}
]
},
{
"id": "R-HSA-8878702",
"name": "p-BMAL1:p-CLOCK,NPAS2 binds KLF15 gene",
"equation": "",
"summary": "The BMAL1:CLOCK heterodimer binds E-boxes in the promoter of the KLF15 gene and activates transcription (inferred from mouse homologs). KLF15 then regulates cardiac ion-channel expression and QT-interval duration (inferred from mouse homologs).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15516-1"
],
"evidence": [
{
"id": "R-HSA-8878702",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8878702"
}
]
}
],
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"participant_name": "F7(21-466) [endoplasmic reticulum lumen]",
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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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{
"ec_number": "2.3.1.48",
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}
]
},
{
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}
]
}
]
},
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{
"ec_number": "2.3.1.48",
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}
]
},
{
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}
]
},
{
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}
]
},
{
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{
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}
]
}
]
},
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{
"ec_number": "2.3.1.48",
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}
]
},
{
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{
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}
]
}
]
},
{
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{
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{
"id": "P43490",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "2.4.2.12",
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{
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
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}
]
},
{
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{
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}
]
},
{
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}
]
}
]
},
{
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"ec_number": "2.3.1.48",
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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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{
"ec_number": "2.3.1.48",
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}
]
},
{
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{
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}
]
}
]
},
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{
"ec_number": "2.3.1.48",
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}
]
},
{
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
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{
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}
]
},
{
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{
"id": "Q00403",
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}
]
}
]
},
{
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{
"ec_number": "2.7.11.1",
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}
]
},
{
"ec_number": "2.7.11.4",
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{
"id": "Q00972",
"database": "UniProtKB",
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}
]
},
{
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{
"id": "Q00972",
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}
]
},
{
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{
"id": "Q00972",
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}
]
},
{
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{
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
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}
]
},
{
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}
]
},
{
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
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{
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}
]
},
{
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{
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
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"url": "https://www.uniprot.org/uniprot/Q07794"
}
]
},
{
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{
"id": "Q07794",
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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"id": "Q08649",
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}
]
},
{
"ec_number": "2.3.1.-",
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}
]
},
{
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{
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q09472",
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"url": "https://www.uniprot.org/uniprot/Q09472"
}
]
},
{
"ec_number": "2.3.1.-",
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{
"id": "Q09472",
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}
]
},
{
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{
"id": "Q09472",
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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}
]
},
{
"ec_number": "2.3.1.48",
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{
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}
]
}
]
},
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q12341",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q12341"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
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{
"id": "Q12341",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q12341"
}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
"evidence": [
{
"id": "Q15788",
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"url": "https://www.uniprot.org/uniprot/Q15788"
}
]
},
{
"ec_number": "2.3.1.48",
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{
"id": "Q15788",
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}
]
}
]
},
{
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{
"ec_number": "3.6.4.12",
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{
"id": "Q3L8U1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q3L8U1"
}
]
},
{
"ec_number": "3.6.4.12",
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{
"id": "Q3L8U1",
"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q3MHC1",
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"url": "https://www.uniprot.org/uniprot/Q3MHC1"
}
]
},
{
"ec_number": "2.3.1.48",
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{
"id": "Q3MHC1",
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}
]
},
{
"ec_number": "2.3.1.259",
"activity": "acetyl-CoA + N-terminal L-methionyl-[transmembrane protein] = CoA + H(+) + N-terminal N(alpha)-acetyl-L-methionyl-[transmembrane protein].",
"evidence": [
{
"id": "Q3MHC1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q3MHC1"
}
]
},
{
"ec_number": "2.3.1.259",
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{
"id": "Q3MHC1",
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}
]
}
]
},
{
"uniprot_ac": "Q56NI9",
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{
"ec_number": "2.3.1.-",
"activity": "",
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{
"id": "Q56NI9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q56NI9"
}
]
}
]
},
{
"uniprot_ac": "Q5FWF5",
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{
"ec_number": "2.3.1.-",
"activity": "",
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{
"id": "Q5FWF5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q5FWF5"
}
]
}
]
},
{
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{
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}
]
},
{
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
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}
]
},
{
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{
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
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}
]
},
{
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{
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
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"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q5XI06"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
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{
"id": "Q5XI06",
"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.-",
"activity": "",
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{
"id": "Q69Z69",
"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.-",
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{
"id": "Q6DGG1",
"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
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"database": "UniProtKB",
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}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
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{
"id": "Q6JHU9",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "2.3.1.-",
"activity": "",
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{
"id": "Q6JHU9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q6JHU9"
}
]
}
]
},
{
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"gene_name": "Taf1",
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{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "Q80UV9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q80UV9"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q80UV9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q80UV9"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
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{
"id": "Q80UV9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q80UV9"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q80UV9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q80UV9"
}
]
}
]
},
{
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"gene_name": "",
"activity": [
{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q869X5",
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}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q869X5",
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}
]
}
]
},
{
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"gene_name": "",
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q869X7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q869X7"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q869X7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q869X7"
}
]
}
]
},
{
"uniprot_ac": "Q86J12",
"gene_name": "",
"activity": [
{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
"evidence": [
{
"id": "Q86J12",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
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{
"id": "Q86J12",
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}
]
}
]
},
{
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{
"ec_number": "2.1.1.319",
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"evidence": [
{
"id": "Q86X55",
"database": "UniProtKB",
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}
]
},
{
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{
"id": "Q86X55",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q86X55"
}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q8BMQ2",
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"url": "https://www.uniprot.org/uniprot/Q8BMQ2"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q8BMQ2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8BMQ2"
}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q8BRB7",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "2.3.1.48",
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{
"id": "Q8BRB7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8BRB7"
}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q8BY71",
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}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q8BY71",
"database": "UniProtKB",
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}
]
}
]
},
{
"uniprot_ac": "Q8BZ21",
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q8BZ21",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8BZ21"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
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{
"id": "Q8BZ21",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8BZ21"
}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q8CHK4",
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}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
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{
"id": "Q8CHK4",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "2.3.1.-",
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{
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.-",
"activity": "",
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{
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.-",
"activity": "",
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{
"id": "Q8VCR7",
"database": "UniProtKB",
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}
]
}
]
},
{
"uniprot_ac": "Q8WYB5",
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q8WYB5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q8WYB5"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q8WYB5",
"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q92793",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q92793",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "Q92793",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92793"
}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
"evidence": [
{
"id": "Q92794",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92794"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q92794",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92794"
}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
"evidence": [
{
"id": "Q92830",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92830"
}
]
},
{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "Q92830",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92830"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q92830",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92830"
}
]
}
]
},
{
"uniprot_ac": "Q92831",
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"activity": [
{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
"evidence": [
{
"id": "Q92831",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92831"
}
]
},
{
"ec_number": "2.3.1.57",
"activity": "acetyl-CoA + an alkane-alpha,omega-diamine = an N-acetylalkane-alpha,omega-diamine + CoA + H(+).",
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{
"id": "Q92831",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92831"
}
]
},
{
"ec_number": "2.3.1.48",
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{
"id": "Q92831",
"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q92993",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92993"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q92993",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92993"
}
]
},
{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "Q92993",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92993"
}
]
}
]
},
{
"uniprot_ac": "Q95SX8",
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
"evidence": [
{
"id": "Q95SX8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q95SX8"
}
]
},
{
"ec_number": "2.3.1.259",
"activity": "acetyl-CoA + N-terminal L-methionyl-[transmembrane protein] = CoA + H(+) + N-terminal N(alpha)-acetyl-L-methionyl-[transmembrane protein].",
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{
"id": "Q95SX8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q95SX8"
}
]
},
{
"ec_number": "2.3.1.259",
"activity": "",
"evidence": [
{
"id": "Q95SX8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q95SX8"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q95SX8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q95SX8"
}
]
}
]
},
{
"uniprot_ac": "Q960X4",
"gene_name": "Tip60",
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{
"ec_number": "2.3.1.48",
"activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].",
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{
"id": "Q960X4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q960X4"
}
]
},
{
"ec_number": "2.3.1.48",
"activity": "",
"evidence": [
{
"id": "Q960X4",
"database": "UniProtKB",
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}
]
}
]
},
{
"uniprot_ac": "Q96EB6",
"gene_name": "SIRT1",
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{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "Q96EB6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96EB6"
}
]
},
{
"ec_number": "2.3.1.286",
"activity": "H2O + N(6)-acetyl-L-lysyl-[protein] + NAD(+) = 2''-O-acetyl-ADP-D-ribose + L-lysyl-[protein] + nicotinamide.",
"evidence": [
{
"id": "Q96EB6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96EB6"
}
]
},
{
"ec_number": "2.3.1.286",
"activity": "",
"evidence": [
{
"id": "Q96EB6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96EB6"
}
]
}
]
},
{
"uniprot_ac": "Q96IU4",
"gene_name": "ABHD14B",
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{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
{
"id": "Q96IU4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96IU4"
}
]
}
]
},
{
"uniprot_ac": "Q96RS0",
"gene_name": "TGS1",
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{
"ec_number": "2.1.1.-",
"activity": "",
"evidence": [
{
"id": "Q96RS0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96RS0"
}
]
}
]
},
{
"uniprot_ac": "Q99MK2",
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"activity": [
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