{
"uniprot_canonical_ac": "Q9UQM7-1",
"uniprot_ac": "Q9UQM7",
"uniprot_id": "KCC2A_HUMAN",
"mass": {
"chemical_mass": 54088.0,
"monoisotopic_mass": 54088.0
},
"refseq": {
"ac": "NP_741960",
"name": "calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 2",
"summary": "The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_741960"
},
"gene_names": [
{
"name": "CAMK2A",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/Q9UQM7",
"id": "Q9UQM7"
},
{
"name": "CAMK2A",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_741960",
"id": "NP_741960"
},
{
"name": "CAMKA; CaMKIIalpha; CaMKIINalpha; MRD53; MRT63",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_741960",
"id": "NP_741960"
},
{
"name": "CAMKA",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/Q9UQM7",
"id": "Q9UQM7"
},
{
"name": "KIAA0968",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/Q9UQM7",
"id": "Q9UQM7"
}
],
"protein_names": [
{
"name": "Calcium/calmodulin-dependent protein kinase type II subunit alpha",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "Q9UQM7"
},
{
"name": "2.7.11.17",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "Q9UQM7"
},
{
"name": "CaM kinase II subunit alpha",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "Q9UQM7"
},
{
"name": "CaMK-II subunit alpha",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "Q9UQM7"
},
{
"name": "calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha; CaM-kinase II alpha chain; calcium/calmodulin-dependent protein kinase II alpha-B subunit; CaM kinase II alpha subunit; CaMK-II alpha subunit; calcium/calmodulin-dependent protein kinase type II alpha chain; calcium/calmodulin-dependent protein kinase type II subunit alpha; caMK-II subunit alpha; caM kinase II subunit alpha",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_741960",
"id": "NP_741960"
},
{
"name": "calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_741960",
"id": "NP_741960"
}
],
"function": [
{
"annotation": "Association of CaMK2A and MeCP2 signaling pathways with cognitive ability in adolescents. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_741960",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_741960"
},
{
"database": "PubMed",
"id": "34607601",
"url": "https://glygen.org/publication/PubMed/34607601"
}
]
},
{
"annotation": "Calcium calmodulin kinase II activity is required for cartilage homeostasis in osteoarthritis. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_741960",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_741960"
},
{
"database": "PubMed",
"id": "33707504",
"url": "https://glygen.org/publication/PubMed/33707504"
}
]
},
{
"annotation": "Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in various processes, such as synaptic plasticity, neurotransmitter release and long-term potentiation (PubMed:14722083). Member of the NMDAR signaling complex in excitatory synapses, it regulates NMDAR-dependent potentiation of the AMPAR and therefore excitatory synaptic transmission (By similarity). Regulates dendritic spine development (PubMed:28130356). Also regulates the migration of developing neurons (PubMed:29100089). Phosphorylates the transcription factor FOXO3 to activate its transcriptional activity (PubMed:23805378). Phosphorylates the transcription factor ETS1 in response to calcium signaling, thereby decreasing ETS1 affinity for DNA (By similarity). In response to interferon-gamma (IFN-gamma) stimulation, catalyzes phosphorylation of STAT1, stimulating the JAK-STAT signaling pathway (PubMed:11972023). In response to interferon-beta (IFN-beta) stimulation, stimulates the JAK-STAT signaling pathway (PubMed:35568036). Acts as a negative regulator of 2-arachidonoylglycerol (2-AG)-mediated synaptic signaling via modulation of DAGLA activity (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7#function"
},
{
"database": "UniProtKB",
"id": "P11275",
"url": "https://www.uniprot.org/uniprot/P11275#function"
},
{
"database": "UniProtKB",
"id": "P11798",
"url": "https://www.uniprot.org/uniprot/P11798#function"
},
{
"database": "PubMed",
"id": "28130356",
"url": "https://glygen.org/publication/PubMed/28130356"
},
{
"database": "PubMed",
"id": "11972023",
"url": "https://glygen.org/publication/PubMed/11972023"
},
{
"database": "PubMed",
"id": "23805378",
"url": "https://glygen.org/publication/PubMed/23805378"
},
{
"database": "PubMed",
"id": "29100089",
"url": "https://glygen.org/publication/PubMed/29100089"
}
]
},
{
"annotation": "The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_741960",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_741960"
}
]
},
{
"annotation": "[Dysregulation of MAD2L1/CAMK2A/PTTG1 Gene Cluster Maintains the Stemness Characteristics of Uterine Corpus Endometrial Carcinoma].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_741960",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_741960"
},
{
"database": "PubMed",
"id": "34728029",
"url": "https://glygen.org/publication/PubMed/34728029"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0080228",
"recommended_name": {
"id": "DOID:0080228",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080228",
"name": "autosomal dominant intellectual developmental disorder 53",
"description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32."
},
"synonyms": [
{
"id": "DOID:0080228",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080228",
"name": "autosomal dominant mental retardation 53",
"description": ""
},
{
"id": "MONDO:0030919",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030919",
"name": "intellectual disability, autosomal dominant 53",
"description": ""
},
{
"id": "MONDO:0030919",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030919",
"name": "intellectual disability, autosomal dominant 53",
"description": ""
},
{
"id": "MONDO:0030919",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030919",
"name": "MRD53",
"description": ""
},
{
"id": "MONDO:0030919",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030919",
"name": "autosomal dominant intellectual disability 53",
"description": ""
},
{
"id": "MONDO:0030919",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030919",
"name": "autosomal dominant mental retardation 53",
"description": ""
},
{
"id": "MONDO:0030919",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0030919",
"name": "mental retardation, autosomal dominant 53",
"description": ""
},
{
"id": "MIM:617798",
"resource": "MIM",
"url": "https://www.omim.org/entry/617798",
"name": "Intellectual developmental disorder, autosomal dominant 53",
"description": "Intellectual developmental disorder, autosomal dominant 53"
}
],
"evidence": [
{
"id": "617798",
"database": "MIM",
"url": "https://www.omim.org/entry/617798"
}
]
},
{
"disease_id": "DOID:0081224",
"recommended_name": {
"id": "DOID:0081224",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0081224",
"name": "autosomal recessive intellectual developmental disorder 63",
"description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32."
},
"synonyms": [
{
"id": "MONDO:0054861",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0054861",
"name": "intellectual disability, autosomal recessive 63",
"description": ""
},
{
"id": "MONDO:0054861",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0054861",
"name": "intellectual disability, autosomal recessive 63",
"description": ""
},
{
"id": "MONDO:0054861",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0054861",
"name": "MRT63",
"description": ""
},
{
"id": "MONDO:0054861",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0054861",
"name": "mental retardation, autosomal recessive 63",
"description": ""
},
{
"id": "MIM:618095",
"resource": "MIM",
"url": "https://www.omim.org/entry/618095",
"name": "Intellectual developmental disorder, autosomal recessive 63",
"description": "Intellectual developmental disorder, autosomal recessive 63"
}
],
"evidence": [
{
"id": "618095",
"database": "MIM",
"url": "https://www.omim.org/entry/618095"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "Q9UQM7",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9UQM7"
}
],
"glycoeffect": [],
"start_pos": 191,
"end_pos": 191,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "G",
"sequence_mut": "W",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "5",
"chr_pos": "150252009",
"ref_nt": "C",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "G191",
"disease": [
{
"disease_id": "DOID:4159",
"recommended_name": {
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "skin cancer",
"description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
},
"synonyms": [
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "CA - skin cancer",
"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "malignant neoplasm of skin",
"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "melanoma and Non-melanoma skin cancer",
"description": ""
}
]
},
{
"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": ""
}
]
},
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "Q9UQM7",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9UQM7"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
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{
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{
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{
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},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
},
{
"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"
}
]
},
{
"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"
}
]
}
],
"keywords": [
"biomuta",
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"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs1406491152",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406491152"
},
{
"id": "rs1406491152",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1406491152"
}
],
"glycoeffect": [
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],
"start_pos": 424,
"end_pos": 424,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).",
"chr_id": "5",
"chr_pos": "150223152",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D424",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "Q9UQM7",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9UQM7"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 468,
"end_pos": 468,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "H",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HRS->NRS).",
"chr_id": "5",
"chr_pos": "150223020",
"ref_nt": "G",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "H468",
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
}
],
"mutagenesis": [
{
"start_pos": 286,
"end_pos": 286,
"sequence_org": "T",
"sequence_mut": "A",
"comment": "No effect on neuronal migration.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
},
{
"database": "PubMed",
"id": "29100089",
"url": "https://glygen.org/publication/PubMed/29100089"
}
]
},
{
"start_pos": 286,
"end_pos": 286,
"sequence_org": "T",
"sequence_mut": "D",
"comment": "Loss of neuronal migration.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
},
{
"database": "PubMed",
"id": "29100089",
"url": "https://glygen.org/publication/PubMed/29100089"
}
]
},
{
"start_pos": 286,
"end_pos": 286,
"sequence_org": "T",
"sequence_mut": "P",
"comment": "No effect on neuronal migration; when associated with R-42.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
},
{
"database": "PubMed",
"id": "29100089",
"url": "https://glygen.org/publication/PubMed/29100089"
}
]
},
{
"start_pos": 42,
"end_pos": 42,
"sequence_org": "K",
"sequence_mut": "R",
"comment": "No effect on protein stability or degradation. No effect on neuronal migration; when associated with P-286.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
},
{
"database": "PubMed",
"id": "29100089",
"url": "https://glygen.org/publication/PubMed/29100089"
}
]
},
{
"start_pos": 466,
"end_pos": 478,
"sequence_org": "HFHRSGAPSVLPH",
"sequence_mut": "",
"comment": "Loss of oligomerization.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
},
{
"database": "PubMed",
"id": "29784083",
"url": "https://glygen.org/publication/PubMed/29784083"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "63.69",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "59.34",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "70.46",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "89.11",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "69.34",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "58.94",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "79.24",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "61.6",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
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"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "48.38",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "77.61",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "42.52",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "55.55",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "52.18",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000070808",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000070808"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "Q9UQM7",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UQM7"
}
],
"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",
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"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
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},
{
"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",
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"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",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "Q9UQM7",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UQM7"
}
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{
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"synonyms": [
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},
{
"id": "DOID:10534",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "gastric neoplasm",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"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",
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"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": "Q9UQM7",
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{
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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",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
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},
{
"id": "MIM:109800",
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"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "Q9UQM7",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UQM7"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "Q9UQM7",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UQM7"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "Q9UQM7",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UQM7"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "Q9UQM7",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UQM7"
}
],
"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": "Q9UQM7",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UQM7"
}
],
"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": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "Q9UQM7",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UQM7"
}
],
"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",
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},
{
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},
{
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},
{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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"sequence": "MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQILEAVLHCHQMGVVHRDLKPENLLLASKLKGAAVKLADFGLAIEVEGEQQAWFGFAGTPGYLSPEVLRKDPYGKPVDLWACGVILYILLVGYPPFWDEDQHRLYQQIKAGAYDFPSPEWDTVTPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLKGAILTTMLATRNFSGGKSGGNKKSDGVKESSESTNTTIEDEDTKVRKQEIIKVTEQLIEAISNGDFESYTKMCDPGMTAFEPEALGNLVEGLDFHRFYFENLWSRNSKPVHTTILNPHIHLMGDESACIAYIRITQYLDAGGIPRTAQSEETRVWHRRDGKWQIVHFHRSGAPSVLPH",
"length": 478,
"header": "sp|Q9UQM7-1|KCC2A_HUMAN Isoform 1 of Calcium/calmodulin-dependent protein kinase type II subunit alpha OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=2 CANONICAL=Q9UQM7-1"
},
"isoforms": [
{
"isoform_ac": "A0A5F9ZH21-1",
"url": "",
"sequence": {
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"length": 478,
"header": "tr|A0A5F9ZH21-1|KCC2A_HUMAN Computationally mapped isoform of Calcium/calmodulin-dependent protein kinase type II subunit alpha OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=1 CANONICAL=Q9UQM7-1"
},
"locus": {
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"start_pos": 150289625,
"end_pos": 150222988,
"strand": "+",
"evidence": [
{
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"id": "ENST00000672752.1",
"url": "https://www.ensembl.org/id/ENST00000672752.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000499939.1",
"url": "https://www.ensembl.org/id/ENSP00000499939.1"
}
]
}
},
{
"isoform_ac": "A0A5F9ZH50-1",
"url": "",
"sequence": {
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"length": 559,
"header": "tr|A0A5F9ZH50-1|A0A5F9ZH50_HUMAN Computationally mapped isoform of calcium/calmodulin-dependent protein kinase OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=1 CANONICAL=Q9UQM7-1"
},
"locus": {
"chromosome": "5",
"start_pos": 150289625,
"end_pos": 150222408,
"strand": "+",
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{
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"id": "ENST00000672396.1",
"url": "https://www.ensembl.org/id/ENST00000672396.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000499987.1",
"url": "https://www.ensembl.org/id/ENSP00000499987.1"
}
]
}
},
{
"isoform_ac": "A0A5F9ZHM9-1",
"url": "",
"sequence": {
"sequence": "MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQILEAVLHCHQMGVVHRDLKPENLLLASKLKGAAVKLADFGLAIEVEGEQQAWFEVLRKDPYGKPVDLWACGVILYILLVGYPPFWDEDQHRLYQQIKAGAYDFPSPEWDTVTPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLKGAILTTMLATRNFSGGKSGGNKKSDGVKESSESTNTTIEDEDTKVRKQEIIKVTEQLIEAISNGDFESYTKMCDPGMTAFEPEALGNLVEGLDFHRFYFENLWSRNSKPVHTTILNPHIHLMGDESACIAYIRITQYLDAGGIPRTAQSEETRVWHRRDGKWQIVHFHRSGAPSVLPH",
"length": 467,
"header": "tr|A0A5F9ZHM9-1|KCC2A_HUMAN Computationally mapped isoform of Calcium/calmodulin-dependent protein kinase type II subunit alpha OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=1 CANONICAL=Q9UQM7-1"
},
"locus": {
"chromosome": "5",
"start_pos": 150289625,
"end_pos": 150222713,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000672785.1",
"url": "https://www.ensembl.org/id/ENST00000672785.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000500496.1",
"url": "https://www.ensembl.org/id/ENSP00000500496.1"
}
]
}
},
{
"isoform_ac": "A0A5F9ZHR5-1",
"url": "",
"sequence": {
"sequence": "MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQILEAVLHCHQMGVVHRDLKPENLLLASKLKGAAVKLADFGLAIEVEGEQQAWFGFAGTPGYLSPEVLRKDPYGKPVDLWACGVILYILLVGYPPFWDEDQHRLYQQIKAGAYDFPSPEWDTVTPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLKGAILTTMLATRNFSGGKSGGNKKSDGVKKRKSSSSVQLMESSESTNTTIEDEDTKVRKQEIIKVTEQLIEAISNGDFESYTKMCDPGMTAFEPEALGNLVEGLDFHRFYFENLWSRNSKPVHTTILNPHIHLMGDESACIAYIRITQYLDAGGIPRTAQSEETRVWHRRDGKWQIVHFHRSGAPSVLPQ",
"length": 489,
"header": "tr|A0A5F9ZHR5-1|KCC2A_HUMAN Computationally mapped isoform of Calcium/calmodulin-dependent protein kinase type II subunit alpha OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=1 CANONICAL=Q9UQM7-1"
},
"locus": {
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"start_pos": 150289625,
"end_pos": 150222988,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000672829.1",
"url": "https://www.ensembl.org/id/ENST00000672829.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000500613.1",
"url": "https://www.ensembl.org/id/ENSP00000500613.1"
}
]
}
},
{
"isoform_ac": "A0A5F9ZHY2-1",
"url": "",
"sequence": {
"sequence": "MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQILEAVLHCHQMGVVHRDLKPENLLLASKLKGAAVKLADFGLAIEVEGEQQAWFGFAGTPGYLSPEVLRKDPYGKPVDLWACGVILYILLVGYPPFWDEDQHRLYQQIKAGAYDFPSPEWDTVTPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLKGAILTTMLATRNFSGGKSGGNKKSDGVKKRKSSSSVQLMESSESTNTTIEDEDTKGRCATLA",
"length": 362,
"header": "tr|A0A5F9ZHY2-1|KCC2A_HUMAN Computationally mapped isoform of Calcium/calmodulin-dependent protein kinase type II subunit alpha OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=1 CANONICAL=Q9UQM7-1"
},
"locus": {
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"start_pos": 150289625,
"end_pos": 150228267,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000672089.1",
"url": "https://www.ensembl.org/id/ENST00000672089.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000500700.1",
"url": "https://www.ensembl.org/id/ENSP00000500700.1"
}
]
}
},
{
"isoform_ac": "A0A5K1VW76-1",
"url": "",
"sequence": {
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"length": 421,
"header": "tr|A0A5K1VW76-1|A0A5K1VW76_HUMAN Computationally mapped isoform of calcium/calmodulin-dependent protein kinase OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=1 CANONICAL=Q9UQM7-1"
},
"locus": {
"chromosome": "5",
"start_pos": 150289625,
"end_pos": 150222713,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000398376.8",
"url": "https://www.ensembl.org/id/ENST00000398376.8"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000381412.4",
"url": "https://www.ensembl.org/id/ENSP00000381412.4"
}
]
}
},
{
"isoform_ac": "A0A804HIC9-1",
"url": "",
"sequence": {
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"length": 458,
"header": "tr|A0A804HIC9-1|A0A804HIC9_HUMAN Computationally mapped isoform of calcium/calmodulin-dependent protein kinase OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=1 CANONICAL=Q9UQM7-1"
},
"locus": {
"chromosome": "5",
"start_pos": 150289625,
"end_pos": 150222713,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000683332.1",
"url": "https://www.ensembl.org/id/ENST00000683332.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000507006.1",
"url": "https://www.ensembl.org/id/ENSP00000507006.1"
}
]
}
},
{
"isoform_ac": "A0A804HLD1-1",
"url": "",
"sequence": {
"sequence": "MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQILEAVLHCHQMGVVHRDLKGLQGLLDISPQKCCGRTRTGSLWTCGLVGSSCTSCWLGTPRSGMRTSTACTSRSKPAPMISHRRNGTLSPRKPRI",
"length": 212,
"header": "tr|A0A804HLD1-1|KCC2A_HUMAN Computationally mapped isoform of Calcium/calmodulin-dependent protein kinase type II subunit alpha OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=1 CANONICAL=Q9UQM7-1"
},
"locus": {
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"start_pos": 150289625,
"end_pos": 150250765,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000683506.1",
"url": "https://www.ensembl.org/id/ENST00000683506.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000508302.1",
"url": "https://www.ensembl.org/id/ENSP00000508302.1"
}
]
}
},
{
"isoform_ac": "A0A8V8TME7-1",
"url": "",
"sequence": {
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"length": 189,
"header": "tr|A0A8V8TME7-1|A0A8V8TME7_HUMAN Computationally mapped isoform of Calcium/calmodulin dependent protein kinase II alpha OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=1 CANONICAL=Q9UQM7-1"
},
"locus": {
"chromosome": "5",
"start_pos": 150245277,
"end_pos": 150222713,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000351010.6",
"url": "https://www.ensembl.org/id/ENST00000351010.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000514006.1",
"url": "https://www.ensembl.org/id/ENSP00000514006.1"
}
]
}
},
{
"isoform_ac": "D6RFJ0-1",
"url": "",
"sequence": {
"sequence": "MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQILEAVLHCHQMGVVHRDLKPENLLLASKLKGAAVKLADFGLAIEVEGEQQAWFGFAGTPGYLSPEVLRKDPYGKPVDLWACGVILYILLVGYPPFWDEDQHRLYQQIKAGAYDFPSPEWDTVTPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLKGAILTTMLATRNFSGGKSGGNKKSDGVKESSESTNTTIEDEDTKVRKQEIIKVTEQLIEAISNGDFESYTVVPEQQARAHHHPESPHPPDGRRVSLHRLHPHHAVPGRWRHPTHRPVGGDPCLAPPGWQMADRPLPQIWGALRPAPLRDQAGVAALLCRRDPLCPWSGAAGSPRWILLEFSHVITPPPSLLYLHQENLLVHKSHRNFRANGHISPPLTPTLSPARLGLPQAWVSTALAPSPQPQLLSA",
"length": 548,
"header": "tr|D6RFJ0-1|D6RFJ0_HUMAN Computationally mapped isoform of calcium/calmodulin-dependent protein kinase OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=9 CANONICAL=Q9UQM7-1"
},
"locus": {
"chromosome": "5",
"start_pos": 150289625,
"end_pos": 150222408,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000510347.2",
"url": "https://www.ensembl.org/id/ENST00000510347.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000426607.2",
"url": "https://www.ensembl.org/id/ENSP00000426607.2"
}
]
}
},
{
"isoform_ac": "Q9UQM7-1",
"url": "",
"sequence": {
"sequence": "MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQILEAVLHCHQMGVVHRDLKPENLLLASKLKGAAVKLADFGLAIEVEGEQQAWFGFAGTPGYLSPEVLRKDPYGKPVDLWACGVILYILLVGYPPFWDEDQHRLYQQIKAGAYDFPSPEWDTVTPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLKGAILTTMLATRNFSGGKSGGNKKSDGVKESSESTNTTIEDEDTKVRKQEIIKVTEQLIEAISNGDFESYTKMCDPGMTAFEPEALGNLVEGLDFHRFYFENLWSRNSKPVHTTILNPHIHLMGDESACIAYIRITQYLDAGGIPRTAQSEETRVWHRRDGKWQIVHFHRSGAPSVLPH",
"length": 478,
"header": "sp|Q9UQM7-1|KCC2A_HUMAN Isoform 1 of Calcium/calmodulin-dependent protein kinase type II subunit alpha OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=2 CANONICAL=Q9UQM7-1"
},
"locus": {
"chromosome": "5",
"start_pos": 150289625,
"end_pos": 150222713,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000348628.11",
"url": "https://www.ensembl.org/id/ENST00000348628.11"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000261793.8",
"url": "https://www.ensembl.org/id/ENSP00000261793.8"
}
]
}
},
{
"isoform_ac": "Q9UQM7-2",
"url": "",
"sequence": {
"sequence": "MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQILEAVLHCHQMGVVHRDLKPENLLLASKLKGAAVKLADFGLAIEVEGEQQAWFGFAGTPGYLSPEVLRKDPYGKPVDLWACGVILYILLVGYPPFWDEDQHRLYQQIKAGAYDFPSPEWDTVTPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLKGAILTTMLATRNFSGGKSGGNKKSDGVKKRKSSSSVQLMESSESTNTTIEDEDTKVRKQEIIKVTEQLIEAISNGDFESYTKMCDPGMTAFEPEALGNLVEGLDFHRFYFENLWSRNSKPVHTTILNPHIHLMGDESACIAYIRITQYLDAGGIPRTAQSEETRVWHRRDGKWQIVHFHRSGAPSVLPH",
"length": 489,
"header": "sp|Q9UQM7-2|KCC2A_HUMAN Isoform 2 of Calcium/calmodulin-dependent protein kinase type II subunit alpha OS=Homo sapiens OX=9606 GN=CAMK2A PE=1 SV=2 CANONICAL=Q9UQM7-1"
},
"locus": {
"chromosome": "5",
"start_pos": 150289625,
"end_pos": 150222713,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000682786.1",
"url": "https://www.ensembl.org/id/ENST00000682786.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000507199.1",
"url": "https://www.ensembl.org/id/ENSP00000507199.1"
}
]
}
}
],
"glycosylation": [
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "T",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 306,
"start_aa": "Thr",
"end_pos": 306,
"end_aa": "Thr",
"residue": "Thr",
"site_lbl": "Thr306",
"evidence": [
{
"id": "Q9UQM7",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UQM7"
},
{
"id": "28657654",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/28657654"
},
{
"id": "Q9UQM7",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/Q9UQM7"
}
]
}
],
"phosphorylation": [
{
"start_pos": 10,
"end_pos": 10,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "Q9UQM7",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UQM7"
},
{
"database": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
}
],
"site_lbl": "Thr10"
},
{
"start_pos": 13,
"end_pos": 13,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Tyr",
"comment": "Phosphotyrosine",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
},
{
"database": "iPTMnet",
"id": "Q9UQM7",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UQM7"
},
{
"database": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
}
],
"site_lbl": "Tyr13"
},
{
"start_pos": 253,
"end_pos": 253,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "phospho.ELM",
"id": "Q9UQM7",
"url": "http://phospho.elm.eu.org/byAccession/Q9UQM7.html"
},
{
"database": "iPTMnet",
"id": "Q9UQM7",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UQM7"
},
{
"database": "PubMed",
"id": "20060891",
"url": "https://glygen.org/publication/PubMed/20060891"
}
],
"site_lbl": "Thr253"
},
{
"start_pos": 257,
"end_pos": 257,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"site_lbl": "Ser257"
},
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"sequence": "MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQILEAVLHCHQMGVVHRDLKPENLLLASKLKGAAVKLADFGLAIEVEGEQQAWFGFAGTPGYLSPEVLRKDPYGKPVDLWACGVILYILLVGYPPFWDEDQHRLYQQIKAGAYDFPSPEWDTVTPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLKGAILTTMLATRNFSGGKSGGNKKNDGVKESSESTNTTIEDEDTKVRKQEIIKVTEQLIEAISNGDFESYTKMCDPGMTAFEPEALGNLVEGLDFHRFYFENLWSRNSKPVHTTILNPHIHLMGDESACIAYIRITQYLDAGGIPRTAQSEETRVWHRRDGKWQIVHFHRSGAPSVLPH",
"length": 478
},
"evidence": [
{
"id": "45233921",
"url": "http://www.informatics.jax.org/homology/45233921",
"database": "MGI"
},
{
"id": "Q9UQM7",
"url": "https://omabrowser.org/oma/group/Q9UQM7/",
"database": "OMA"
}
],
"common_name": "Mouse"
}
],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 11,
"go_terms": [
{
"name": "calmodulin binding",
"id": "GO:0005516",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "ATP binding",
"id": "GO:0005524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "calmodulin-dependent protein kinase activity",
"id": "GO:0004683",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004683",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "protein serine/threonine kinase activity",
"id": "GO:0004674",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "identical protein binding",
"id": "GO:0042802",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "protein homodimerization activity",
"id": "GO:0042803",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "metal ion binding",
"id": "GO:0046872",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "glutamate receptor binding",
"id": "GO:0035254",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035254",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "kinase activity",
"id": "GO:0016301",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "protein serine kinase activity",
"id": "GO:0106310",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "protein kinase activity",
"id": "GO:0004672",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 21,
"go_terms": [
{
"name": "protein phosphorylation",
"id": "GO:0006468",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "response to ischemia",
"id": "GO:0002931",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "positive regulation of NF-kappaB transcription factor activity",
"id": "GO:0051092",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051092",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "calcium ion transport",
"id": "GO:0006816",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "regulation of endocannabinoid signaling pathway",
"id": "GO:2000124",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000124",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "protein autophosphorylation",
"id": "GO:0046777",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "regulation of neurotransmitter secretion",
"id": "GO:0046928",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "dendritic spine development",
"id": "GO:0060996",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060996",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "angiotensin-activated signaling pathway",
"id": "GO:0038166",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "G1/S transition of mitotic cell cycle",
"id": "GO:0000082",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "positive regulation of receptor signaling pathway via JAK-STAT",
"id": "GO:0046427",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "peptidyl-serine phosphorylation",
"id": "GO:0018105",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "cellular response to type II interferon",
"id": "GO:0071346",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "cellular response to interferon-beta",
"id": "GO:0035458",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "regulation of neuronal synaptic plasticity",
"id": "GO:0048168",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048168",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "positive regulation of calcium ion transport",
"id": "GO:0051928",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "positive regulation of cardiac muscle cell apoptotic process",
"id": "GO:0010666",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010666",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "negative regulation of hydrolase activity",
"id": "GO:0051346",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051346",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "regulation of neuron migration",
"id": "GO:2001222",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001222",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "regulation of mitochondrial membrane permeability involved in apoptotic process",
"id": "GO:1902108",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902108",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "peptidyl-threonine autophosphorylation",
"id": "GO:1990443",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990443",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 11,
"go_terms": [
{
"name": "organelle",
"id": "GO:0043226",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043226",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "nucleoplasm",
"id": "GO:0005654",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "mitochondrion",
"id": "GO:0005739",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "postsynaptic density",
"id": "GO:0014069",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "dendritic spine",
"id": "GO:0043197",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "endocytic vesicle membrane",
"id": "GO:0030666",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030666",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "neuron projection",
"id": "GO:0043005",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
},
{
"name": "calcium- and calmodulin-dependent protein kinase complex",
"id": "GO:0005954",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005954",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 312,
"end_pos": 314,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 335,
"end_pos": 337,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Autophosphorylation of Thr-286 following activation by Ca(2+)/calmodulin. Phosphorylation of Thr-286 locks the kinase into an activated state.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
},
{
"database": "PubMed",
"id": "14722083",
"url": "https://glygen.org/publication/PubMed/14722083"
}
]
},
{
"annotation": "Palmitoylated. Probably palmitoylated by ZDHHC3 and ZDHHC7.",
"evidence": [
{
"database": "UniProtKB",
"id": "Q9UQM7",
"url": "https://www.uniprot.org/uniprot/Q9UQM7"
},
{
"database": "PubMed",
"id": "P11275",
"url": "https://glygen.org/publication/PubMed/P11275"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "17989",
"name": "",
"equation": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
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"D3ZGQ5-1",
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"P13286-1",
"P49187-1",
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"Q9R011-1",
"Q9R012-1",
"D3ZSZ3-1",
"Q06486-1",
"Q62726-1",
"Q63450-1",
"Q4KSH7-1",
"Q5XIS9-1",
"Q63285-1",
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"P67999-1",
"O88664-1",
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"O08679-1",
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"Q7TNJ7-1",
"Q64303-1",
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"Q7TPK6-1",
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"P49185-1",
"P09217-1",
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"P35465-1",
"P20793-1",
"O88506-1",
"Q9Z335-1",
"Q7TNL4-1",
"Q8R4U9-1",
"Q8R4V0-1",
"Q8VHF0-1",
"Q924U5-1",
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],
"evidence": [
{
"id": "17989",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/17989"
}
]
},
{
"id": "46608",
"name": "",
"equation": "ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
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"evidence": [
{
"id": "46608",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/46608"
}
]
},
{
"id": "R-HSA-416320",
"name": "Trafficking of GluR1-containing AMPA receptors",
"equation": "",
"summary": "GluR1-containing AMPA receptors are delivered to the synapses in an activity dependent manner. GluR1 trafficking is controlled by protein- protein interactions with 4.1N/G protein, SAP97 and by intricate regulation of phosphorylation of GluR1 at several phosphorylation sites in the C tail. GluR1 has four phosphorylation sites; serine 818 (S818) is phosphorylated by PKC, necessary for LTP, serine 831 (S831) is phosphorylated by CaMKII and increases the delivery of receptors to the synapse and also increases their single channel conductance, Threonine (T840) is implicated in LTP and serine 845 (S845) phosphorylated by PKA regulates open channel probability and also by cGKII, a cyclic GMP activated kinase, that increases the surface expression of GluR1. GluR1 insertion into synapse by CaMKII may induce LTP. CaMKII is a Ca/calmodulin dependent kinase that is activated upon increases in the Ca ion concentration during postsynaptic activity through NMDA receptors. The increase in GluR1-containing AMPA receptor population at the synapse results in enhancement of excitatory post synaptic potential (EPSC) which forms the basis of Long term potentiation (LTP). LTP is one form of synaptic plasticity that is involved in memory and learning. The increase in the GluR1 containing AMPA receptors and their activity leads to rise in intracellular Ca which induces signaling pathways that in turn promote switch in the type of AMPA receptors (Ca impermeable) thereby limiting the Ca increase and preventing cell death.",
"cellular_location": "plasma membrane",
"input_participant_list": [
"R-HSA-3006692",
"R-HSA-392241",
"R-HSA-416331",
"R-HSA-416332"
],
"output_participant_list": [
"R-HSA-381669",
"R-HSA-3006691",
"R-HSA-375977",
"R-HSA-416333"
],
"enzyme_list": [
"Q9UQM7-1",
"Q00987-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-416320",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416320"
}
]
},
{
"id": "R-HSA-427910",
"name": "ATP2A1-3 transport Ca2+ from cytosol to ER lumen",
"equation": "",
"summary": "Intracellular pools of Ca2+ serve as the source for inositol 1,4,5-trisphosphate (IP3) -induced alterations in cytoplasmic free Ca2+. In most human cells Ca2+ is stored in the lumen of the sarco/endoplastic reticulum by ATPases known as SERCAs (ATP2As). In platelets, ATP2As transport Ca2+ into the platelet dense tubular network. ATP2As are P-type ATPases, similar to the plasma membrane Na+ and Ca+-ATPases. Humans have three genes for SERCA pumps; ATP2A1-3. Studies on ATP2A1 suggest that it binds two Ca2+ ions from the cytoplasm and is subsequently phosphorylated at Asp351 before translocating Ca2+ into the SR lumen. There is a counter transport of two or possibly three protons ensuring partial charge balancing. Sarcolipin (SLN) can reversibly inhibit the activity of ATP2A1 by decreasing the apparent affinity of the ATPase for Ca2+ (Gorski et al. 2013) whereas activated Ca2+/CaM-dependent protein kinase II (CAMK2) and sorcin (SRI) can both stimulate ATP2A1-3 activity (Toyofuku et al. 1994, Matsumoto et al. 2005).",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [
"R-ALL-111875"
],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"O14983-1",
"P16615-1",
"Q93084-2",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-427910",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427910"
}
]
},
{
"id": "R-HSA-432162",
"name": "Unblocking of GRIN1:GRIN2 NMDA receptors",
"equation": "",
"summary": "NMDA receptors are activated in a two-step mechanism, first by ligand binding and then by removal of the voltage dependent Mg2+ block. At resting membrane potential, NMDA receptors can bind the agonist (glutamate) and the co-agonist (glycine), but cannot be activated by ligand alone due to the presence of Mg2+ ion in the pore of the channel. Then, the membrane is depolarized, through the influx of Na+ through other membrane resident channels, which triggers the removal of Mg2+ from the NMDA receptor pore. Once Mg2+ is expelled, ligand-bound NMDA receptors become active (Wollmuth et al. 1998, Clarke et al. 2013).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-432162",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432162"
}
]
},
{
"id": "R-HSA-432164",
"name": "Ca2+ influx into the post-synaptic cell",
"equation": "",
"summary": "NMDA receptors are activated upon binding of two ligands, glutamate and glycine or D-serine. The activation leads to Ca2+ influx into the post-synaptic cell. The local rise in the Ca2+ ion concentration further leads to activation of several Ca2+ dependent pathways leading to long term changes in the synapse (Cairns et al. 2003, reviewed by Luscher and Malenka 2012 and Sanz-Clemente et al. 2013).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-432164",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432164"
}
]
},
{
"id": "R-HSA-432172",
"name": "Glycine and glutamate ligands bind GRIN1:GRIN2 NMDA receptor",
"equation": "",
"summary": "NMDA receptors require binding of two ligands: agonist, glutamate and co-agonist, glycine or D-serine. The extracellular ligand binding domain in GluN1 (GRIN1, NR1) subunits binds co-agonist glycine or D-serine and the extracellular ligand binding domain in GluN2 (GRIN2, NR2) binds glutamate. In total, two molecules of glycine or D-serine (one for each of the two GluN1 subunits) and two molecules of glutamate (one for each of the two GluN2 subunits) are bound to activate one NMDA receptor (Kleckner and Dingledine 1988, Benveniste and Mayer 1991, Furukawa et al. 2005).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-432172",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432172"
}
]
},
{
"id": "R-HSA-4332356",
"name": "CAMK2 binds MAP3K7",
"equation": "",
"summary": "Several studies in C. elegans and vertebrates suggest that a TAK1-NLK kinase cascade regulates the activity of the canonical WNT signaling pathway (Ishitani et al, 1999; Meneghini et al, 1999; Shin et al, 1999; Rocheleau et al, 1999). Activation of this MAPK cascade depends on CAMK2 activity downstream of WNT5a non-canonical signaling (Ishitani et al, 2003a, b). CAMK2 co-precipitates with TAK1/MAP3K7 upon co-transfection in HEK293 cells and calcium signaling activates MAP3K7 in a CAMK2-dependent manner (Ishitani et al, 2003a).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O43318-1",
"Q9UQM7-1"
],
"evidence": [
{
"id": "R-HSA-4332356",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4332356"
}
]
},
{
"id": "R-HSA-4332358",
"name": "Dissociation of CaM and CAMK2 autophosphorylation",
"equation": "",
"summary": "Dissociation of Ca2+/CaM from activated CAMK2 allows subsequent phosphorylations at Thr 305 and Thr 306. These phosphorylations, which occur within the CaM binding site, prevent reassociation of Ca2+/CaM (reviewed in Stratton et al, 2013).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1"
],
"evidence": [
{
"id": "R-HSA-4332358",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4332358"
}
]
},
{
"id": "R-HSA-4332359",
"name": "Active calmodulin binds CAMK2",
"equation": "",
"summary": "Calcium release in response to WNT5A has been shown to activate calcium/calmodulin-dependent protein kinase 2 (CAMK2) (Kuhl et al, 2000; Ishitani et al, 2003a). Human cells have 4 genes encoding CAMK: alpha, beta, delta and gamma. Alpha and beta isoforms are expressed in neuronal tissue while delta and gamma isoforms have broad tissue distribution. The enzyme exists as either a homo- or hetero- dodecamer of ill-defined stoichiometry. In the inactive state, the autoinhibitory loop of CAMK2 blocks the active site. Upon binding of Ca2+/calmodulin, the autoinhibitory loop is displaced, allowing subsequent autophosphorylation at T286 in CAMK2 alpha and activation of the kinase (reviewed in Stratton et al, 2013). ; ; WNT-dependent activation of CAMK2 is inhibited by an interaction between oncogenic KRAS4B and calmodulin. This promotes tumorigenesis by relieving the suppression of beta-catenin dependent signaling mediated by the non-canonical WNT signaling pathway (Wang et al, 2015).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1"
],
"evidence": [
{
"id": "R-HSA-4332359",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4332359"
}
]
},
{
"id": "R-HSA-4332363",
"name": "Autophosphorylation and activation of CAMK2",
"equation": "",
"summary": "Binding of CaM to CAMK2 displaces the autoinhibitory loop from the active site and allows CAMK2 to autophosphorylate T286, resulting in CAMK2 activation (reveiwed in Stratton et al, 2013).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1"
],
"evidence": [
{
"id": "R-HSA-4332363",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4332363"
}
]
},
{
"id": "R-HSA-4332388",
"name": "Activation of MAP3K7 in response to WNT",
"equation": "",
"summary": "Endogenous MAP3K7 is phosphorylated in a CAMK2-dependent fashion upon co-expression of WNT5A or after stimulation of calcium signaling (Ishitani et al, 2003a). Despite evidence that co-precipitated MAP3K7 is phosphorylated in vitro in the presence of CAMK2, direct phosphorylation of MAP3K7 by CAMK2 using purified proteins has not been demonstrated (Ishitani et al, 2003a). The roles of polyubiquitination and accessory proteins TAB1, 2 or 3 in MAP3K7 activation have not been investigated in the context of non-canonical WNT signaling and are therefore omitted from this reaction (reviewed in Dai et al, 2012).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-206014"
],
"enzyme_list": [
"O43318-1",
"Q9UQM7-1"
],
"evidence": [
{
"id": "R-HSA-4332388",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4332388"
}
]
},
{
"id": "R-HSA-438037",
"name": "Membrane depolarization upon activation of Ca impermeable AMPA receptors",
"equation": "",
"summary": "Membrane depolarization occurs due to glutamate dependent activation of Ca-impermeable AMPA receptors, which permits the influx of Na+ ions. The depolarization triggers the removal of Mg2+ from the NMDA receptor pore to facilitate its activation. Therefore, activation of AMPA receptors by glutamate precedes activation of NMDA receptors.",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-438037",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-438037"
}
]
},
{
"id": "R-HSA-442725",
"name": "CaMKII binds activated calmodulin",
"equation": "",
"summary": "CaMKII is fully activated upon binding to the complex of calcium and calmodulin (CALM1:4xCa2+), which forms upon influx of calcium ions through activated NMDA receptors. Autophosphorylation increases the affinity of CaMKII for the active calmodulin (CALM1:4xCa2+) (Meyer et al. 1992).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-442725",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442725"
}
]
},
{
"id": "R-HSA-442732",
"name": "NMDA-activated RASGRF1 activates RAS",
"equation": "",
"summary": "Binding of RASGRF1 oligomers (Anborgh et al. 1999) to calcium-activated calmodulin (CALM1:4xCa2+) stimulates GDP to GTP exchange on RAS, resulting in RAS activation (Farnsworth et al. 1995). Binding of RASGRF1 to the GluN2B (GRIN2B, NR2B) subunit of NMDA receptors is needed for activation of RAS downstream of NDMA receptor activation (Krapivinsky et al. 2003).
Activated CaMKII can contribute to activation of RAS/RAF/MAPK signaling by phosphorylation of RAF1 (Salzano et al. 2012).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P01111-1",
"Q9UQM7-1",
"Q13554-1",
"P01112-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-442732",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442732"
}
]
},
{
"id": "R-HSA-442760",
"name": "Activation of RasGRF",
"equation": "",
"summary": "After Ca2+ influx through the activated NMDA receptors, RASGRF1 homooligomers and heterooligomers with RASGRF2 are activated by binding to the Ca2+:Calmodulin complex (CALM1:4xCa2+) and by associating with the GluN1:GluN2B (GRIN1:GRIN2B) NMDA receptors through direct interaction between GluN2B and RASGRF1 (Anborgh et al. 1999, Krapivinsky et al. 2003).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-442760",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442760"
}
]
},
{
"id": "R-HSA-445367",
"name": "CaMKII binds activated NMDA receptor",
"equation": "",
"summary": "CaMKII can independentl bind to NMDA receptor-associated proteins alpha-actinin-2 (ACTN2) and densin-180 (LRRC7), as well as the NMDA receptor subunit GluN2B (GRIN2B, NR2B). Any of the four CAMK2 isoforms, CAMK2A, CAMK2B, CAMK2D or CAMK2G, which associate to form homomeric or heteromeric CaMKII dodecamers, can bind to ACTN2 and GluN2B, while LRRC7 shows the highest affinity for CAMK2A (Husi et al. 2000, Robison et al. 2005). Binding of CaMKII to the NMDA receptor-associated proteins is independent of CaMKII phosphorylation (Robinson et al. 2005), but phosphorylation of CaMKII on threonine residue T286 (T287 in CAMK2B, CAMK2D and CAMK2G) is needed for binding to GluN2B (Strack and Colbran 1998, Bayer et al. 2001). Binding to activated calmodulin is needed for translocation of CaMKII from the cytosol to the postsynaptic density (PSD). In the cytosol, CaMKII dodecamers containing CAMK2A subunit bind to F-actin. Dissociation of CAMK2A from F-actin requires either autophosphorylation of CAMK2A or binding to activated calmodulin (Shen and Meyer 1999).
Autophosphorylation increases the affinity of CaMKII for calmodulin and binding of CaMKII to the NMDA receptor subunit GluN2B locks the kinase in an active state, thus prolonging CaMKII signaling (Bayer et al. 2001). Prolonged activity of CaMKII is implicated in long-term potentiation (LTP), which is involved in learning and memory (Fukunaga et al. 1992, Otmakhov et al. 2004). Switching from GluN2B- to GluN2A (GRIN2A)-containing NDMA receptors results in reduced binding of CaMKII to PSD and reduced LTP, which may contribute to reduced synaptic plasticity (Barria and Malinow 2005).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-445367",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445367"
}
]
},
{
"id": "R-HSA-5082387",
"name": "Phosphorylation of HSF1 at Ser230 induces transactivation",
"equation": "",
"summary": "The transcriptional activity of HSF1 has been shown to be controlled by the regulatory domain composed of amino acids 221-310 (Green M et al. 1995; Zuo J et al. 1995; Newton EM et al., 1996). Ser230 is located in this regulatory domain of HSF1 and is constitutively and stress-inducibly phosphorylated (Holmberg CI et al. 2001). Analyses with phosphopeptide-specific antibody and site-directed mutagenesis revealed that phosphorylation at Ser230 enhanced the inducible HSF1 transcriptional activity in heat-shocked human K562 erythroleukemia and HeLa cells (Holmberg CI et al 2001). Active calcium/calmodulin-dependent protein kinase II (CaMKII) was shown to phosphorylate HSF1 at Ser230 in vitro. Moreover, CaMKII enhanced heat-induced tranactivating capacity of HSF1 and the level of endogenous Ser230 phosphorylation in K562 cells transfected with active CaMKII together with a CAT reporter plasmid containing the proximal HSE of human hsp70 promoter. Thus, CaMKII signaling may be involved in the positive regulation of HSF1-mediated transactivation. However, the possibility that other protein kinases might also phosphorylate Ser230 in vivo should not be excluded (Holmberg CI et al 2001).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-5082387",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5082387"
}
]
},
{
"id": "R-HSA-5576895",
"name": "SCNAs:SNCBs transport Na+ from extracellular region to cytosol",
"equation": "",
"summary": "Sodium channel proteins, subunit alpha (SCNAs) mediate the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient. SCNA channels consist of an ion-conducting, pore-forming alpha-subunit regulated by one or more associated auxiliary subunits SCN1B, 2B, 3B and 4B. SCN1B and 3B are non-covalently associated with SCNA, while SCN2B is covalently linked by disulfide bonds.
SCNAs interact with cytosolic proteins that regulate channel trafficking and/or modulate the biophysical properties of the channels. Fibroblast growth factors (FGFs) are potent regulators of voltage-gated Na+ channels in adult ventricular myocytes and suggest that loss-of-function mutations in FGFs may underlie a similar set of cardiac arrhythmias and cardiomyopathies that result from SCN5A (aka Nav1.5) loss-of-function mutations. Ran guanine nucleotide release factor (RANGRF aka MOG1) is a critical regulator of sodium channel function in the heart and is thought to regulate the cell surface localization of SCN5A (Marfatia et al. 2001, Wu et al. 2008). Calcium/calmodulin-dependent protein kinase type II subunit delta (CAMK2D), as part of a heteromeric complex with CAMK2A, CAMK2B and CAMK2G can be activated by calmodulin/Ca2+ (CALM:4xCa2+) to then phosphorylate SNC5A at multiple sites, inactivating it (Ashpole et al. 2012).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-5576895",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576895"
}
]
},
{
"id": "R-HSA-5672965",
"name": "RAS GEFs promote RAS nucleotide exchange",
"equation": "",
"summary": "The human genome is predicted to encode 27 RAS guanine nucleotide exchange factors (GEFs) that promote the exchange of GDP for GTP on membrane-associated RAS in response to RAS-MAPK pathway activation by growth factors, hormones, cytokines and other stimuli (reviewed in Cherfils and Zeghouf, 2013; Cargnello and Roux, 2011). Nucleotide exchange stimulates a conformational change in RAS to facilitate its interaction with RAF, ultimately promoting the phosphorylation of downstream effectors MAPK3 and MAPK1 (also known as ERK1 and ERK2) (reviewed in Cseh et al, 2014; Vigil et al, 2010).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P01111-1",
"P07949-1",
"P22455-1",
"P52333-1",
"P16234-1",
"O60674-1",
"Q9UQM7-1",
"P00533-1",
"P04626-1",
"P06241-1",
"P10721-1",
"Q13554-1",
"Q02763-1",
"P01112-1",
"P36888-1",
"P09619-1",
"P18433-5",
"Q05397-1",
"Q13557-1",
"P08581-1",
"P23458-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-5672965",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5672965"
}
]
},
{
"id": "R-HSA-5672969",
"name": "Phosphorylation of RAF",
"equation": "",
"summary": "Downstream of RAF dimerization and allosteric activation, RAF monomers and KSR1 undergo a series of activating phosphorylations in both the activation loop (AL) and, in the case of ARAF, RAF1 and KSR1, in the NtA . Phosphorylation of the activation loop residues (T491, S494 in RAF1, T452, T455 in ARAF and T599, S602 in BRAF) contributes to full kinase activity, although this may be less critical for ARAF, and RAFs in general, than for other kinases due to their regulation by 14-3-3 binding (Zhu et al, 2005; Zhang et al, 2000; Baljuls et al, 2008, reviewed in Matallanas et al, 2011; Udell et al, 2011). AL phosphorylation may occur through cis-autophosphorylation within the RAF dimer, although phosphorylation by other kinases is also possible (Hu et al, 2013; reviewed in Matallanas et al, 2011).
Phosphorylation in the RAF NtA region is required for full kinase activity, for interaction with MAP2K substrates and for the ability of activated RAF to act as an allosteric activator of other RAF monomers (Marais et al, 1995; Diaz et al, 1997; Xiang et al, 2002; Edin et al, 2005; Hu et al, 2013; Mason et al, 1999). Phosphorylation of these residues (S338 and Y441 in RAF1, S299 and Y302 in ARAF and Y602 in KSR1) may be mediated by a kinase of the SRC, JAK or PAK family kinases, by MAP2K kinases, calmodulin kinase CaMKII or through autophosphorylation by RAF itself (Marais et al, 1995; Xia et al, 1996; King et al, 1998; Sun et al, 2000; Tran et al, 2003; Tran et al, 2005; Salzano et al. 2012, Hu et al, 2013; reviewed in Matallanas et al, 2011). The phosphorylated NtA of RAF1 is also the binding site for the negative regulator PEPB1, also known as RKIP. PEBP1 binding to RAF1 prevents phosphorylation of the MAP2K substrates (Park et al, 2006; Rath et al, 2008; reviewed in Shin et al, 2009).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P01111-1",
"O60674-1",
"Q9UQM7-1",
"P12931-1",
"P04049-1",
"P10398-1",
"P15056-1",
"P27448-5",
"Q13554-1",
"P01112-1",
"P36507-1",
"Q8IVT5-1",
"Q02750-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-5672969",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5672969"
}
]
},
{
"id": "R-HSA-6802916",
"name": "RAF is phosphorylated downstream of moderate kinase activity BRAF mutants",
"equation": "",
"summary": "Homo- or heterodimerization (with RAF1, also known as CRAF) downstream of moderate kinase activity BRAF mutants leads to phosphorylation and activation of the 'receiver' kinase. Unlike the case for the highly active V600E BRAF mutation, pathway activation downstream of moderately activated BRAF mutants depends both on RAS binding and on dimerization (Wan et al, 2004; Roring et al, 2012; Freeman et al, 2013; reviewed in Samatar and Poulikakos, 2014; Lavoie and Therrien, 2015)
",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P01111-1",
"O60674-1",
"Q9UQM7-1",
"P12931-1",
"P04049-1",
"P10398-1",
"P15056-1",
"Q13554-1",
"P01112-1",
"P36507-1",
"Q02750-1",
"Q13557-1",
"Q13555-1",
"P01116-1"
],
"evidence": [
{
"id": "R-HSA-6802916",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802916"
}
]
},
{
"id": "R-HSA-6802924",
"name": "RAF is phosphorylated downstream of oncogenic RAS",
"equation": "",
"summary": "In many cancer types, RAF1 (also known as CRAF) appears to be a critical initial effector of the ERK pathway downstream of activated RAS and also mediates pathway activation in the presence of WT BRAF plus BRAF inhibitors (Rushworth et al, 2006; Dumaz et al, 2006; Garnett et al, 2005; Karreth et al, 2011; Poulikakos et al, 2010; Heidorn et al, 2010; Roring et al, 2012; reviewed in Samatar et al, 2014; Lito et al, 2013). This activation depends largely on heterodimerization with BRAF, although homodimers also contribute (Weber et al, 2001; Rushworth et al, 2006). Activation of RAF downstream of mutant RAS appears to require full phosphorylation of the N-region and the activation loop, unlike the case in BRAF mutant cells, where RAF N-loop phosphorylation is dispensable (Garnett et al, 2005).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P01111-1",
"O60674-1",
"Q9UQM7-1",
"P12931-1",
"P04049-1",
"P10398-1",
"P15056-1",
"Q13554-1",
"P01112-1",
"P36507-1",
"Q02750-1",
"Q13557-1",
"Q13555-1",
"P01116-1"
],
"evidence": [
{
"id": "R-HSA-6802924",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802924"
}
]
},
{
"id": "R-HSA-6802927",
"name": "BRAF and RAF fusion mutant dimers are phosphorylated",
"equation": "",
"summary": "Fusion mutants of BRAF and RAF1 are believed to form constitutive dimers and activate downstream signaling independent of RAS and external stimuli (Jones et al, 2008; Cin et al, 2011; Palanisamy et al, 2010; Ciampi et al, 2005; Stransky et al, 2014; Hutchinson et al, 2013; Zhang et al, 2013; Lee et al, 2012; Ricarte-Filho et al, 2013; reviewed in Lavoie and Therrien et al, 2015). The RAF portion of the fusion mutants may undergo phosphorylation of the N-region and activation loops similar to WT as shown in this reaction, although this has not been studied in detail. While WT RAF phosphorylation happens in the context of a complex with with RAS, this is unlikely to be the case for the fusion mutants, as many of these proteins lack the N-terminal RAS binding domain (reviewed in Lavoie and Therrien, 2015).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15164-1",
"Q6ZMT4-1",
"O60674-1",
"Q9UQM7-1",
"P12931-1",
"Q53H12-1",
"P04049-1",
"P10398-1",
"P15056-1",
"Q13554-1",
"P36507-1",
"Q7KZF4-1",
"Q02750-1",
"Q13557-1",
"Q5XG87-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-6802927",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802927"
}
]
},
{
"id": "R-HSA-6802941",
"name": "RAF is paradoxically phosphorylated downstream of kinase-inactive RAF",
"equation": "",
"summary": "The enhanced dimerization of inhibited or kinase dead versions of BRAF to RAF1/CRAF stimulates the phosphorylation and transactivation of RAF1 (Wan et al, 2004; Garnett et al, 2005; Heidorn et al, 2010; Poulikakos et al, 2010; Hatzivassiliou et al, 2010; reviewed in Samatar and Poulikakos, 2014; Lavoie and Therrien, 2015). Other evidence suggests that paradoxical activation of RAF1 by inhibited or inactive BRAF may result from relief of an inhibitory CRAF autophosphorylation event (Holderfield et al, 2013; reviewed in Holderfield, 2014).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P01111-1",
"O60674-1",
"Q9UQM7-1",
"P12931-1",
"P04049-1",
"P10398-1",
"P15056-1",
"Q13554-1",
"P01112-1",
"P36507-1",
"Q02750-1",
"Q13557-1",
"Q13555-1",
"P01116-1"
],
"evidence": [
{
"id": "R-HSA-6802941",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802941"
}
]
},
{
"id": "R-HSA-9006992",
"name": "MECP2 is phosphorylated at S423",
"equation": "",
"summary": "In resting neurons, MECP2 is phosphorylated at serine residue S80, which results in a decreased association of MECP2 with chromatin. In activity-induced neurons, upon neuronal membrane depolarization, MECP2 S80 becomes dephosphorylated, and MECP2 acquires phosphorylation on serine S423 (corresponding to mouse Mecp2 serine S421). CaMK IV is one of the kinases that can phosphorylate MECP2 on S423. Phosphorylation of MECP2 at S423 increases MECP2 binding to chromatin (Zhou et al. 2006, Tao et al. 2009, Qiu et al. 2012).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q16566-1",
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-9006992",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9006992"
}
]
},
{
"id": "R-HSA-909552",
"name": "Phosphorylation of STAT1 at Ser727",
"equation": "",
"summary": "Kinases like Protein kinase C delta (PKC-delta) and Calcium/calmodulin-dependent protein kinase II (CaMK II ) can phosphorylate STAT1 at serine 727 (S727). This phosphorylation is not required for STAT1 homodimer formation, nuclear translocation and DNA binding. However, it is essential for the full transcriptional activation of STAT1.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05655-1",
"O60674-1",
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"P23458-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-909552",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-909552"
}
]
},
{
"id": "R-HSA-9611368",
"name": "CaMKII and LRRC7 bind to NMDA receptors at postsynaptic density",
"equation": "",
"summary": "The calmodulin-dependent kinase, CaMKII, is enriched in postsynaptic density (PSD) and co-localizes with NMDA receptors. CaMKII can independently bind to alpha-actinin-2 (ACTN2), densin-180 (LRRC7) and the NMDA receptor subunit GluN2B (GRIN2B). Any of the four CAMK2 isoforms, CAMK2A, CAMK2B, CAMK2D or CAMK2G, which associate to form homomeric or heteromeric CaMKII dodecamers, can bind to ACTN2 and GluN2B, while LRRC7 shows the highest affinity for CAMK2A. Binding of CaMKII to the NMDA receptor-associated proteins is independent of CaMKII phosphorylation (Robison et al. 2005).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-9611368",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9611368"
}
]
},
{
"id": "R-HSA-9612085",
"name": "SRC phosphorylates GluN2 (GRIN2) subunits of NMDARs",
"equation": "",
"summary": "Non-receptor tyrosine kinase SRC phosphorylates GluN2 (GRIN2, NR2) subunits of the GluN2-containing NMDA receptors. This increases NMDA receptor open time and activity (Yu et al. 1997) and plays a role in long-term potentiation. SRC-mediated phosphorylation of NMDA receptors (NMDARs) is reduced in schizophrenia. Activation of ERBB4 signaling negatively regulates phosphorylation of NMDARs by SRC. ERBB4 signaling is hyperactivated in schizophrenia (Pitcher et al. 2011, Banerjee et al. 2015).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"P12931-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-9612085",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9612085"
}
]
},
{
"id": "R-HSA-9614185",
"name": "Mg2+ binds GRIN1:GRIN2 NMDA receptors",
"equation": "",
"summary": "The pore of the NMDA receptor is blocked by binding of Mg2+ ions. The strength of the block depends on the subunit composition of the NMDA receptor, as both the GluN1 (GRIN1, NR1) subunit and GluN2 (GRIN2, NR2) subunits interact with Mg2+ (Nowak et al. 1984, Mayer et al. 1984, Wollmuth et al. 1998, Vargas-Caballero and Robinson 2004, Siegler Retchless et al. 2012, Schwartz et al. 2012, Clarke et al. 2013, reviewed by Iacobucci and Popescu 2017).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-9614185",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9614185"
}
]
},
{
"id": "R-HSA-9617326",
"name": "CALM1:4xCa2+ binds GluN1:GluN2 (GRIN1:GRIN2) NMDA receptors and displaces ACTN2",
"equation": "",
"summary": "Calmodulin (CALM1), activated by binding to calcium ions (Ca2+), after influx of calcium through the pore of activated GluN1:GluN2 (GRIN1:GRIN2) NMDA receptors, binds to the GluN1 (GRIN1, NR1) subunit of the NMDA receptors (Ehlers et al. 1995). Binding of calcium-calmodulin complex (CALM1:4xCa2+) competes with binding of alpha-actinin-2 (ACTN2) to GluN1, leading to dissociation of NMDA receptors from ACTN2 (Wyszynski et al. 1997). Calmodulin binding inhibits the activity of NMDA receptors by reducing the duration of the channel pore open state (Ehlers et al. 1996) and possibly by interfering with ACTN2-mediated anchoring of NMDA receptors to the postsynaptic density (Wyszynski et al. 1997).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-9617326",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9617326"
}
]
},
{
"id": "R-HSA-9617583",
"name": "CaMKII autophosphorylates",
"equation": "",
"summary": "Binding of the complex of calcium and calmodulin (CALM1:4xCa2+) to CaMKII dodecamer, upon calcium influx through activated NMDA receptors, activates the kinase activity of CaMKII, leading to CaMKII autophosphorylation on threonine residue T286 (T286 in the alpha isoform of CaMKII corresponds to T287 in the beta isoforms of CaMKII). Autophosphorylation increases the affinity of CaMKII for calmodulin, but once autophosphorylated, CaMKII remains partially catalytically active even after dissociation of calmodulin (Schworer et al. 1986, Meyer et al. 1992).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-9617583",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9617583"
}
]
},
{
"id": "R-HSA-9618750",
"name": "CaMKII phosphorylates AMPA receptor",
"equation": "",
"summary": "CaMKII, activated by NMDA receptor-mediated calcium influx, translocates to the postsynaptic density (PSD) by binding to the NMDA receptor and phosphorylates AMPA receptor subunit GluA1 (GRIA1, GluR1) and auxiliary proteins. CaMKII-mediated phosphorylation of AMPA receptors enhances association of AMPA the PSD proteins and increases conductance of AMPA receptors (McGlade-McCulloh et al. 1993, Mammen et al. 1997, Strack et al. 1997, Barria et al. 1997, Tomita et al. 2005, Opazo et al. 2010).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-9618750",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9618750"
}
]
},
{
"id": "R-HSA-9619449",
"name": "PPM1F dephosphorylates p-T286-CaMKII",
"equation": "",
"summary": "Protein phosphatase 1F (PPM1F, also known as CaM-kinase phosphatase or CaMKPase) dephosphorylates the autophosphorylated threonine residue of CaMKII (CAMK2), thus inactivating CaMKII kinase activity (Ishida et al. 1998).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UQM7-1",
"Q13554-1",
"Q13557-1",
"P49593-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-9619449",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619449"
}
]
},
{
"id": "R-HSA-9656212",
"name": "Phosphorylation of RAF1 mutants",
"equation": "",
"summary": "RAF1 mutants in cancer and germline disorders such as Noonan syndrome undergo enhanced dimerization and activation with BRAF, leading to high levels of downstream signaling. This has been observed even in cases of RAF1 mutations with abrogated or impaired kinase activity (Razzaque et al, 2007; Pandit et al, 2007; Kobayashi et al, 2010; Wu et al, 2012; Krauthammer et al, 2015; reviewed in Rauen, 2013).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P01111-1",
"O60674-1",
"Q9UQM7-1",
"P12931-1",
"P04049-1",
"P10398-1",
"P15056-1",
"Q13554-1",
"P01112-1",
"P36507-1",
"Q8IVT5-1",
"Q02750-1",
"Q13557-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-9656212",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9656212"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-111875",
"participant_name": "Ca2+ [endoplasmic reticulum lumen]",
"crossref": [
{
"id": "C00076",
"database": "COMPOUND",
"url": ""
},
{
"id": "29108",
"database": "ChEBI",
"url": ""
},
{
"id": "HMDB0000464",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "8145461",
"database": "PubChem Substance",
"url": ""
},
{
"id": "29108",
"database": "ChEBI",
"url": ""
},
{
"id": "8145461",
"database": "PubChem Substance",
"url": ""
},
{
"id": "C00076",
"database": "COMPOUND",
"url": ""
},
{
"id": "HMDB0000464",
"database": "HMDB Metabolite",
"url": ""
},
{
"id": "C00076",
"database": "COMPOUND",
"url": ""
},
{
"id": "29108",
"database": "ChEBI",
"url": ""
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}
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},
{
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}
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}
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{
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}
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}
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}
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},
{
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}
]
}
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},
{
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}
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{
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}
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}
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},
{
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}
]
},
{
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}
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]
},
{
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]
}
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},
{
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}
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{
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}
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},
{
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}
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},
{
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}
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},
{
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}
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]
},
{
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},
{
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},
{
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}
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]
},
{
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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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"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
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]
},
{
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]
}
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{
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{
"ec_number": "2.7.1.40",
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},
{
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]
},
{
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]
},
{
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]
}
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{
"ec_number": "2.7.11.11",
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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": "2.7.11.1",
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]
},
{
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]
}
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},
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{
"ec_number": "2.7.11.1",
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]
},
{
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]
}
]
},
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{
"ec_number": "2.7.11.17",
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]
},
{
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]
}
]
},
{
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{
"ec_number": "2.7.11.19",
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]
},
{
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"id": "P13286",
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]
},
{
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]
},
{
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{
"id": "P13286",
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]
}
]
},
{
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{
"ec_number": "2.7.11.13",
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]
},
{
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{
"id": "P13677",
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}
]
}
]
},
{
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{
"ec_number": "2.7.11.13",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
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]
},
{
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{
"id": "P13678",
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]
}
]
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}
]
}
]
},
{
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{
"ec_number": "2.7.12.1",
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}
]
},
{
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}
]
}
]
},
{
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{
"ec_number": "2.7.12.1",
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}
]
},
{
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}
]
}
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},
{
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{
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}
]
},
{
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}
]
},
{
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}
]
}
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}
]
},
{
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]
},
{
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}
]
}
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{
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]
},
{
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}
]
},
{
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]
}
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{
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}
]
},
{
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"id": "P50613",
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}
]
},
{
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}
]
},
{
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}
]
}
]
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}
]
},
{
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}
]
},
{
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"id": "P50750",
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}
]
},
{
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}
]
}
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{
"ec_number": "2.7.11.1",
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}
]
},
{
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"id": "P50873",
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}
]
}
]
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{
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}
]
},
{
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]
},
{
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"id": "P51123",
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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": "2.7.11.1",
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]
},
{
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]
}
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]
},
{
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]
}
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]
},
{
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]
}
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]
},
{
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"id": "P51957",
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]
}
]
},
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]
},
{
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"id": "P52304",
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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": "2.7.12.2",
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]
},
{
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"id": "P52564",
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]
}
]
},
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{
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]
},
{
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"id": "P53104",
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]
}
]
},
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{
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"id": "P53233",
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]
},
{
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{
"id": "P53233",
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]
}
]
},
{
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{
"ec_number": "2.7.11.1",
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{
"id": "P53323",
"database": "UniProtKB",
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}
]
},
{
"ec_number": "3.6.-.-",
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{
"id": "P53323",
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}
]
}
]
},
{
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{
"ec_number": "2.7.11.25",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
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{
"id": "P53349",
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}
]
},
{
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{
"id": "P53349",
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]
}
]
},
{
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{
"ec_number": "2.7.11.21",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
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{
"id": "P53350",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P53350"
}
]
},
{
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{
"id": "P53350",
"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "2.7.11.21",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
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{
"id": "P53351",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P53351"
}
]
},
{
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{
"id": "P53351",
"database": "UniProtKB",
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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": "2.7.11.1",
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{
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]
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