{
"uniprot_canonical_ac": "O75962-1",
"uniprot_ac": "O75962",
"uniprot_id": "TRIO_HUMAN",
"mass": {
"chemical_mass": 346900.0,
"monoisotopic_mass": 346900.0
},
"refseq": {
"ac": "NP_009049",
"name": "triple functional domain protein",
"summary": "This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049"
},
"gene_names": [
{
"name": "TRIO",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O75962",
"id": "O75962"
},
{
"name": "ARHGEF23; MEBAS; MRD44; MRD63; tgat",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049",
"id": "NP_009049"
},
{
"name": "TRIO",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049",
"id": "NP_009049"
}
],
"protein_names": [
{
"name": "Triple functional domain protein",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O75962"
},
{
"name": "2.7.11.1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O75962"
},
{
"name": "PTPRF-interacting protein; triple functional domain (PTPRF interacting)",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049",
"id": "NP_009049"
},
{
"name": "PTPRF-interacting protein",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O75962"
},
{
"name": "triple functional domain protein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049",
"id": "NP_009049"
}
],
"function": [
{
"annotation": "Autoinhibition of the GEF activity of cytoskeletal regulatory protein Trio is disrupted in neurodevelopmental disorder-related genetic variants.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_009049",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049"
},
{
"database": "PubMed",
"id": "35963430",
"url": "https://glygen.org/publication/PubMed/35963430"
}
]
},
{
"annotation": "Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:8643598, PubMed:22155786, PubMed:27418539). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202, PubMed:22155786). Plays a key role in the regulation of neurite outgrowth and lamellipodia formation (PubMed:32109419). In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved in the control of synaptic function by regulating the endocytosis of AMPA-selective glutamate receptors (AMPARs) at CA1 excitatory synapses (By similarity). May act as a regulator of adipogenesis (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962#function"
},
{
"database": "UniProtKB",
"id": "F1M0Z1",
"url": "https://www.uniprot.org/uniprot/F1M0Z1#function"
},
{
"database": "PubMed",
"id": "8643598",
"url": "https://glygen.org/publication/PubMed/8643598"
},
{
"database": "PubMed",
"id": "22155786",
"url": "https://glygen.org/publication/PubMed/22155786"
},
{
"database": "PubMed",
"id": "32109419",
"url": "https://glygen.org/publication/PubMed/32109419"
},
{
"database": "PubMed",
"id": "27418539",
"url": "https://glygen.org/publication/PubMed/27418539"
},
{
"database": "PubMed",
"id": "10341202",
"url": "https://glygen.org/publication/PubMed/10341202"
}
]
},
{
"annotation": "More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_009049",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049"
},
{
"database": "PubMed",
"id": "34013494",
"url": "https://glygen.org/publication/PubMed/34013494"
}
]
},
{
"annotation": "Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_009049",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049"
},
{
"database": "PubMed",
"id": "36717740",
"url": "https://glygen.org/publication/PubMed/36717740"
}
]
},
{
"annotation": "Rho-GEF Trio regulates osteosarcoma progression and osteogenic differentiation through Rac1 and RhoA. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_009049",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049"
},
{
"database": "PubMed",
"id": "34893584",
"url": "https://glygen.org/publication/PubMed/34893584"
}
]
},
{
"annotation": "Structural/functional studies of Trio provide insights into its configuration and show that conserved linker elements enhance its activity for Rac1.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_009049",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049"
},
{
"database": "PubMed",
"id": "35779635",
"url": "https://glygen.org/publication/PubMed/35779635"
}
]
},
{
"annotation": "This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_009049",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0070074",
"recommended_name": {
"id": "DOID:0070074",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070074",
"name": "autosomal dominant intellectual developmental disorder 44",
"description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2."
},
"synonyms": [
{
"id": "DOID:0070074",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070074",
"name": "autosomal dominant non-syndromic intellectual disability 44",
"description": ""
},
{
"id": "DOID:0070074",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070074",
"name": "MRD44",
"description": ""
},
{
"id": "DOID:0070074",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070074",
"name": "autosomal dominant mental retardation 44",
"description": ""
},
{
"id": "DOID:0070074",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070074",
"name": "autosomal dominant intellectual developmental disorder 44 with microcephaly",
"description": ""
},
{
"id": "MONDO:0014892",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014892",
"name": "micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome",
"description": ""
},
{
"id": "MONDO:0014892",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014892",
"name": "MEBAS",
"description": ""
},
{
"id": "MONDO:0014892",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014892",
"name": "MRD44",
"description": ""
},
{
"id": "MONDO:0014892",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014892",
"name": "autosomal dominant intellectual disability 44",
"description": ""
},
{
"id": "MONDO:0014892",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014892",
"name": "autosomal dominant mental retardation 44",
"description": ""
},
{
"id": "MONDO:0014892",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014892",
"name": "intellectual developmental disorder, autosomal dominant 44, with microcephaly",
"description": ""
},
{
"id": "MONDO:0014892",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014892",
"name": "mercer-Ba syndrome",
"description": ""
},
{
"id": "MONDO:0014892",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014892",
"name": "autosomal dominant non-syndromic intellectual disability 44",
"description": ""
},
{
"id": "MONDO:0014892",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014892",
"name": "intellectual disability, autosomal dominant 44",
"description": ""
},
{
"id": "MONDO:0014892",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014892",
"name": "mental retardation, autosomal dominant 44",
"description": ""
},
{
"id": "MIM:617061",
"resource": "MIM",
"url": "https://www.omim.org/entry/617061",
"name": "Intellectual developmental disorder, autosomal dominant 44, with microcephaly",
"description": "Intellectual developmental disorder, autosomal dominant 44, with microcephaly"
}
],
"evidence": [
{
"id": "617061",
"database": "MIM",
"url": "https://www.omim.org/entry/617061"
}
]
},
{
"disease_id": "MONDO:0032939",
"recommended_name": {
"id": "MONDO:0032939",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0032939",
"name": "intellectual developmental disorder, autosomal dominant 63, with macrocephaly",
"description": ""
},
"synonyms": [
{
"id": "MONDO:0032939",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0032939",
"name": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY",
"description": ""
},
{
"id": "MONDO:0032939",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0032939",
"name": "MRD63",
"description": ""
},
{
"id": "MONDO:0032939",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0032939",
"name": "Mental Retardation, Autosomal Dominant 63, With Macrocephaly",
"description": ""
},
{
"id": "MIM:618825",
"resource": "MIM",
"url": "https://www.omim.org/entry/618825",
"name": "Intellectual developmental disorder, autosomal dominant 63, with macrocephaly",
"description": "Intellectual developmental disorder, autosomal dominant 63, with macrocephaly"
}
],
"evidence": [
{
"id": "618825",
"database": "MIM",
"url": "https://www.omim.org/entry/618825"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs866655659",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866655659"
},
{
"id": "rs866655659",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs866655659"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 1096,
"end_pos": 1096,
"sequence_org": "P",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMP->NMS).",
"chr_id": "5",
"chr_pos": "14374298",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P1096",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs977578066",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs977578066"
},
{
"id": "rs977578066",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs977578066"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 1256,
"end_pos": 1256,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SKS->NKS).",
"chr_id": "5",
"chr_pos": "14387733",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S1256",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "O75962",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75962"
}
],
"glycoeffect": [],
"start_pos": 131,
"end_pos": 131,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "R",
"sequence_mut": "H",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "5",
"chr_pos": "14286915",
"ref_nt": "G",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "R131",
"disease": [
{
"disease_id": "DOID:2531",
"recommended_name": {
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematologic cancer",
"description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
},
"synonyms": [
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematologic malignancy",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematologic neoplasm",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematological tumors",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "blood cancer",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic and lymphoid system tumor",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic cancer",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic neoplasm",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic tumors",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "malignant hematopoietic neoplasm",
"description": ""
}
]
},
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
},
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
],
"keywords": [
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"disease"
]
},
{
"evidence": [
{
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"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312054348"
},
{
"id": "rs1312054348",
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],
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"germline"
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},
{
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{
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},
{
"id": "rs1445568217",
"database": "NCI-TCGA",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445568217"
},
{
"id": "rs1445568217",
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"url": "http://gnomad.broadinstitute.org/awesome?query=rs1445568217"
}
],
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],
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"chr_id": "5",
"chr_pos": "14406601",
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"alt_nt": "null",
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"site_lbl": "D1630",
"keywords": [
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"germline"
]
},
{
"evidence": [
{
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"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196692026"
},
{
"id": "rs1196692026",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1196692026"
}
],
"glycoeffect": [
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],
"start_pos": 1673,
"end_pos": 1673,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSN->NSS).",
"chr_id": "5",
"chr_pos": "14419836",
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"alt_nt": "null",
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"site_lbl": "N1673",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
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"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1207662910"
},
{
"id": "rs1207662910",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1207662910"
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],
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],
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"end_pos": 1743,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAS->NAS).",
"chr_id": "5",
"chr_pos": "14461042",
"ref_nt": "A",
"alt_nt": "null",
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"site_lbl": "D1743",
"keywords": [
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"germline"
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},
{
"evidence": [
{
"id": "rs1421941634",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421941634"
},
{
"id": "rs1421941634",
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}
],
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"n-glyco-sequon-gain"
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"alt_nt": "null",
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},
{
"evidence": [
{
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"database": "BioMuta",
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}
],
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],
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"end_pos": 1944,
"subjects_tested": "0",
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"sequence_org": "P",
"sequence_mut": "H",
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"chr_pos": "14471385",
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"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
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"synonyms": [
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},
{
"id": "DOID:10534",
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},
{
"id": "MONDO:0001056",
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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": ""
},
{
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},
{
"id": "MONDO:0007576",
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"name": "malignant tumour of proximal third of oesophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
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},
{
"id": "MONDO:0007576",
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"name": "Escc, susceptibility to",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
"resource": "MIM",
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"name": "Esophageal cancer",
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]
},
{
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"id": "DOID:363",
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"url": "http://disease-ontology.org/term/DOID:363",
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"synonyms": [
{
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},
{
"id": "DOID:363",
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
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"name": "neoplasm of uterus",
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
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"name": "uterine tumor",
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
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}
]
},
{
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"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
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},
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{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "BT - Brain tumour",
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},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
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},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
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},
{
"id": "DOID:1319",
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},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain neoplasm, adult",
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},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
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{
"id": "DOID:1319",
"resource": "Disease Ontology",
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},
{
"id": "DOID:1319",
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},
{
"id": "DOID:1319",
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"name": "malignant tumor of Brain",
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},
{
"id": "DOID:1319",
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"name": "malignant tumor of adult brain",
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},
{
"id": "DOID:1319",
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},
{
"id": "DOID:1319",
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},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
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},
{
"id": "DOID:1319",
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},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
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"name": "tumor of the Brain",
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}
]
}
],
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"somatic",
"cancer",
"disease"
]
},
{
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{
"id": "rs1298397950",
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},
{
"id": "rs1298397950",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1298397950#frequency_tab"
},
{
"id": "rs1298397950",
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"url": "http://gnomad.broadinstitute.org/awesome?query=rs1298397950"
}
],
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],
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"end_pos": 750,
"sequence_org": "H",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HNS->NNS).",
"chr_id": "5",
"chr_pos": "14359388",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "H750",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1221562766",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221562766"
},
{
"id": "rs1221562766",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1221562766"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 757,
"end_pos": 757,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHI->NHT).",
"chr_id": "5",
"chr_pos": "14359410",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I757",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1243976587",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243976587"
},
{
"id": "rs1243976587",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1243976587"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 816,
"end_pos": 816,
"sequence_org": "F",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDF->NDS).",
"chr_id": "5",
"chr_pos": "14363787",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "F816",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [
{
"start_pos": 1299,
"end_pos": 1299,
"sequence_org": "E",
"sequence_mut": "A",
"comment": "50% decrease in nucleotide exchange activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "9790533",
"url": "https://glygen.org/publication/PubMed/9790533"
}
]
},
{
"start_pos": 1303,
"end_pos": 1303,
"sequence_org": "T",
"sequence_mut": "A",
"comment": "40% decrease in nucleotide exchange activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "9790533",
"url": "https://glygen.org/publication/PubMed/9790533"
}
]
},
{
"start_pos": 1389,
"end_pos": 1389,
"sequence_org": "N",
"sequence_mut": "A",
"comment": "No change in nucleotide exchange activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "9790533",
"url": "https://glygen.org/publication/PubMed/9790533"
}
]
},
{
"start_pos": 1426,
"end_pos": 1426,
"sequence_org": "V",
"sequence_mut": "A",
"comment": "90% decrease in nucleotide exchange activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "9790533",
"url": "https://glygen.org/publication/PubMed/9790533"
}
]
},
{
"start_pos": 1427,
"end_pos": 1427,
"sequence_org": "Q",
"sequence_mut": "A",
"comment": "80% decrease in nucleotide exchange activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "9790533",
"url": "https://glygen.org/publication/PubMed/9790533"
}
]
},
{
"start_pos": 1428,
"end_pos": 1428,
"sequence_org": "R",
"sequence_mut": "A",
"comment": "80% decrease in nucleotide exchange activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "9790533",
"url": "https://glygen.org/publication/PubMed/9790533"
}
]
},
{
"start_pos": 1430,
"end_pos": 1430,
"sequence_org": "T",
"sequence_mut": "A",
"comment": "80% decrease in nucleotide exchange activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "9790533",
"url": "https://glygen.org/publication/PubMed/9790533"
}
]
},
{
"start_pos": 1431,
"end_pos": 1431,
"sequence_org": "K",
"sequence_mut": "A",
"comment": "Loss of nucleotide exchange activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "9790533",
"url": "https://glygen.org/publication/PubMed/9790533"
}
]
},
{
"start_pos": 1434,
"end_pos": 1434,
"sequence_org": "L",
"sequence_mut": "A",
"comment": "40% decrease in nucleotide exchange activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "9790533",
"url": "https://glygen.org/publication/PubMed/9790533"
}
]
},
{
"start_pos": 1437,
"end_pos": 1437,
"sequence_org": "K",
"sequence_mut": "A",
"comment": "No change in nucleotide exchange activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "9790533",
"url": "https://glygen.org/publication/PubMed/9790533"
}
]
},
{
"start_pos": 1438,
"end_pos": 1438,
"sequence_org": "E",
"sequence_mut": "A",
"comment": "30% decrease in nucleotide exchange activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "9790533",
"url": "https://glygen.org/publication/PubMed/9790533"
}
]
},
{
"start_pos": 2917,
"end_pos": 2917,
"sequence_org": "K",
"sequence_mut": "A",
"comment": "Expected to disrupt kinase activity. Causes reorganization of the actin cytoskeleton in the absence of NGF.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "22155786",
"url": "https://glygen.org/publication/PubMed/22155786"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "81.15",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000038382",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000038382"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "70.84",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000038382",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000038382"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "90.8",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000038382",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000038382"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "87.19",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000038382",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000038382"
}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "97.06",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000038382",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000038382"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "92.84",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000038382",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000038382"
}
]
},
{
"tissue": {
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},
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"present": "HIGH",
"evidence": [
{
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000038382"
}
]
},
{
"tissue": {
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"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "87.75",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000038382",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000038382"
}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "88.94",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000038382",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000038382"
}
]
},
{
"tissue": {
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"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
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"present": "HIGH",
"evidence": [
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000038382"
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]
},
{
"tissue": {
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"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
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"present": "HIGH",
"evidence": [
{
"database": "Bgee",
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]
},
{
"tissue": {
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"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
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]
},
{
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000038382"
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]
}
],
"expression_disease": [
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],
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},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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},
{
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},
{
"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",
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"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O75962",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75962"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
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"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": [
{
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"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
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},
{
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"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",
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"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
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"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",
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"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",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "O75962",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75962"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
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},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "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",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O75962",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75962"
}
],
"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": "up",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O75962",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75962"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O75962",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75962"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O75962",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75962"
}
],
"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": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "O75962",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75962"
}
],
"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": "O75962",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75962"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "O75962",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75962"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O75962",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75962"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
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},
{
"id": "7SJ4",
"url": "https://www.rcsb.org/structure/7SJ4",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "PF00018",
"url": "http://pfam.xfam.org/family/PF00018",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF00069",
"url": "http://pfam.xfam.org/family/PF00069",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF00169",
"url": "http://pfam.xfam.org/family/PF00169",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF00435",
"url": "http://pfam.xfam.org/family/PF00435",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF00621",
"url": "http://pfam.xfam.org/family/PF00621",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF07679",
"url": "http://pfam.xfam.org/family/PF07679",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF13716",
"url": "http://pfam.xfam.org/family/PF13716",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF16609",
"url": "http://pfam.xfam.org/family/PF16609",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "O75962",
"url": "https://pharos.nih.gov/targets/O75962",
"database": "PHAROS",
"categories": [
"Organism-specific"
]
},
{
"id": "PR_O75962",
"url": "http://purl.obolibrary.org/obo/PR_O75962",
"database": "PRO",
"categories": [
"Protein"
]
},
{
"id": "R-HSA-193648",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193648",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-416476",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-416482",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-418885",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418885",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-8980692",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-9013148",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013148",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-9013149",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-9013404",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013404",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-9013408",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-9013409",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-9013423",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013423",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "NP_009049",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_009049",
"database": "RefSeq",
"categories": [
"Protein"
]
},
{
"id": "17989",
"url": "https://www.rhea-db.org/rhea/17989",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "46608",
"url": "https://www.rhea-db.org/rhea/46608",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "A0A1W2PRD7",
"url": "https://www.uniprot.org/uniprot/A0A1W2PRD7",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A1W2PRD7-1",
"url": "https://www.uniprot.org/uniprot/A0A1W2PRD7-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TLX5",
"url": "https://www.uniprot.org/uniprot/A0A8V8TLX5",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TLX5-1",
"url": "https://www.uniprot.org/uniprot/A0A8V8TLX5-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TNC6",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNC6",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TNC6-1",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNC6-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A994J7G8",
"url": "https://www.uniprot.org/uniprot/A0A994J7G8",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A994J7G8-1",
"url": "https://www.uniprot.org/uniprot/A0A994J7G8-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E7EPJ7",
"url": "https://www.uniprot.org/uniprot/E7EPJ7",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E7EPJ7-1",
"url": "https://www.uniprot.org/uniprot/E7EPJ7-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E7EWP2",
"url": "https://www.uniprot.org/uniprot/E7EWP2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E7EWP2-1",
"url": "https://www.uniprot.org/uniprot/E7EWP2-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H228",
"url": "https://www.uniprot.org/uniprot/F5H228",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H228-1",
"url": "https://www.uniprot.org/uniprot/F5H228-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O75962-1",
"url": "https://www.uniprot.org/uniprot/O75962-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O75962-2",
"url": "https://www.uniprot.org/uniprot/O75962-2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O75962-3",
"url": "https://www.uniprot.org/uniprot/O75962-3",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O75962-4",
"url": "https://www.uniprot.org/uniprot/O75962-4",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O75962-5",
"url": "https://www.uniprot.org/uniprot/O75962-5",
"database": "UniProtKB",
"categories": [
"Protein"
]
}
],
"sequence": {
"sequence": "MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEMKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDILAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIRQIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVGRTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRRDGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRGQTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVETERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKPVQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVAQGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKVSCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNALTSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSRIPQPVRHHPPVLVSSAASSQAEADKMSGTSTPGPSLPPPGAAPEAGPSAPSRRPPGADAEGSEREAEPIPKMKVLESPRKGAANASGSSPDAPAKDARASLGTLPLGKPRAGAASPLNSPLSSAVPSLGKEPFPPSSPLQKGGSFWSSIPASPASRPGSFTFPGDSDSLQRQTPRHAAPGKDTDRMSTCSSASEQSVQSTQSNGSESSSSSNISTMLVTHDYTAVKEDEINVYQGEVVQILASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIVENPDGTLKKSTSWHTALRLRKKSEKKDKDGKREGKLENGYRKSREGLSNKVSVKLLNPNYIYDVPPEFVIPLSEVTCETGETVVLRCRVCGRPKASITWKGPEHNTLNNDGHYSISYSDLGEATLKIVGVTTEDDGIYTCIAVNDMGSASSSASLRVLGPGMDGIMVTWKDNFDSFYSEVAELGRGRFSVVKKCDQKGTKRAVATKFVNKKLMKRDQVTHELGILQSLQHPLLVGLLDTFETPTSYILVLEMADQGRLLDCVVRWGSLTEGKIRAHLGEVLEAVRYLHNCRIAHLDLKPENILVDESLAKPTIKLADFGDAVQLNTTYYIHQLLGNPEFAAPEIILGNPVSLTSDTWSVGVLTYVLLSGVSPFLDDSVEETCLNICRLDFSFPDDYFKGVSQKAKEFVCFLLQEDPAKRPSAALALQEQWLQAGNGRSTGVLDTSRLTSFIERRKHQNDVRPIRSIKNFLQSRLLPRV",
"length": 3097,
"header": "sp|O75962-1|TRIO_HUMAN Isoform 1 of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=2 CANONICAL=O75962-1"
},
"isoforms": [
{
"isoform_ac": "A0A1W2PRD7-1",
"url": "",
"sequence": {
"sequence": "MPNGLKPVDTLDSLSSVSSAYCSGGQPGTCKYWILDLDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVETERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKPVQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFD",
"length": 458,
"header": "tr|A0A1W2PRD7-1|TRIO_HUMAN Computationally mapped isoform of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=2 CANONICAL=O75962-1"
},
"locus": {
"chromosome": "5",
"start_pos": 14481618,
"end_pos": 14441249,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000639876.2",
"url": "https://www.ensembl.org/id/ENST00000639876.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000492184.2",
"url": "https://www.ensembl.org/id/ENSP00000492184.2"
}
]
}
},
{
"isoform_ac": "A0A8V8TLX5-1",
"url": "",
"sequence": {
"sequence": "MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEMKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDILAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIRQIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVGRTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRRDGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRGQTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKHYVDLCSVSVLAQFPYLSV",
"length": 1908,
"header": "tr|A0A8V8TLX5-1|TRIO_HUMAN Computationally mapped isoform of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=1 CANONICAL=O75962-1"
},
"locus": {
"chromosome": "5",
"start_pos": 14464564,
"end_pos": 14143726,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000698541.1",
"url": "https://www.ensembl.org/id/ENST00000698541.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000513786.1",
"url": "https://www.ensembl.org/id/ENSP00000513786.1"
}
]
}
},
{
"isoform_ac": "A0A8V8TNC6-1",
"url": "",
"sequence": {
"sequence": "MPNGLKPVDTLDSLSSVSSAYCSGGQPGTCKYWILDLDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVETERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKPVQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVAQGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKVSCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNALTSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSRIPQPVRHHPPVLVSSAASSQAEADKMSGTSTPGPSLPPPGAAPEAGPSAPSRRPPGADAEGSEREAEPIPKMKVLESPRKGAANASGSSPDAPAKDARASLGTLPLGKPRAGAASPLNSPLSSAVPSLGKEPFPPSSPLQKGGSFWSSIPASPASRPGSFTFPGDSDSLQRQTPRHAAPGKDTDRMSTCSSASEQSVQSTQSNGGRWPGP",
"length": 853,
"header": "tr|A0A8V8TNC6-1|TRIO_HUMAN Computationally mapped isoform of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=1 CANONICAL=O75962-1"
},
"locus": {
"chromosome": "5",
"start_pos": 14489047,
"end_pos": 14441249,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000698542.1",
"url": "https://www.ensembl.org/id/ENST00000698542.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000513787.1",
"url": "https://www.ensembl.org/id/ENSP00000513787.1"
}
]
}
},
{
"isoform_ac": "A0A994J7G8-1",
"url": "",
"sequence": {
"sequence": "MKSVFVDTFRFRKNDEMKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDILAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIRQIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIE",
"length": 915,
"header": "tr|A0A994J7G8-1|TRIO_HUMAN Computationally mapped isoform of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=1 CANONICAL=O75962-1"
},
"locus": {
"chromosome": "5",
"start_pos": 14366979,
"end_pos": 14268866,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000704488.1",
"url": "https://www.ensembl.org/id/ENST00000704488.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000515916.1",
"url": "https://www.ensembl.org/id/ENSP00000515916.1"
}
]
}
},
{
"isoform_ac": "E7EPJ7-1",
"url": "",
"sequence": {
"sequence": "IKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIRQIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVGRTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRRDGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRGQTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVETERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKPVQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVAQGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKVSCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNALTSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSRIPQPVRHHPPVLVSSAASSQAEADKMSGTSTPGPSLPPPGAAPEAGPSAPSRRPPGADAEGSEREAEPIPKMKVLESPRKGAANASGSSPDAPAKDARASLGTLPLGKPRAGAASPLNSPLSSAVPSLGKEPFPPSSPLQKGGSFWSSIPASPASRPGSFTFPGDSDSLQRQTPRHAAPGKDTDRMSTCSSASEQSVQSTQSNGSESSSSSNISTMLVTHDYTAVKEDEINVYQGEVVQILASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIVENPDGTLKKSTSWHTALRLRKKSEKKDKDGKREGKLENGYRKSREGLSNKVSVKLLNPNYIYDVPPEFVIPLSEVTCETGETVVLRCRVCGRPKASITWKGPEHNTLNNDGHYSISYSDLGEATLKIVGVTTEDDGIYTCIAVNDMGSASSSASLRVLGPGMDGIMVTWKDNFDSFYSEVAELGRANWNNWSPY",
"length": 2546,
"header": "tr|E7EPJ7-1|TRIO_HUMAN Computationally mapped isoform of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=2 CANONICAL=O75962-1"
},
"locus": {
"chromosome": "5",
"start_pos": 14531771,
"end_pos": 14290977,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000513206.5",
"url": "https://www.ensembl.org/id/ENST00000513206.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000426342.2",
"url": "https://www.ensembl.org/id/ENSP00000426342.2"
}
]
}
},
{
"isoform_ac": "E7EWP2-1",
"url": "",
"sequence": {
"sequence": "MKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDILAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIRQIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVGRTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRRDGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRGQTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVETERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKPVQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVAQGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKVSCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNALTSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSRIPQPVRHHPPVLVSSAASSQAEADKMSE",
"length": 2309,
"header": "tr|E7EWP2-1|TRIO_HUMAN Computationally mapped isoform of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=2 CANONICAL=O75962-1"
},
"locus": {
"chromosome": "5",
"start_pos": 14492568,
"end_pos": 14270845,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000512070.6",
"url": "https://www.ensembl.org/id/ENST00000512070.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000421555.2",
"url": "https://www.ensembl.org/id/ENSP00000421555.2"
}
]
}
},
{
"isoform_ac": "F5H228-1",
"url": "",
"sequence": {
"sequence": "MAEGFRKNDEMKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDILAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIRQIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFVSIGVQNCKSKGNTIAVFL",
"length": 1508,
"header": "tr|F5H228-1|TRIO_HUMAN Computationally mapped isoform of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=1 CANONICAL=O75962-1"
},
"locus": {
"chromosome": "5",
"start_pos": 14399127,
"end_pos": 14183950,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000509967.6",
"url": "https://www.ensembl.org/id/ENST00000509967.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000445592.1",
"url": "https://www.ensembl.org/id/ENSP00000445592.1"
}
]
}
},
{
"isoform_ac": "O75962-1",
"url": "",
"sequence": {
"sequence": "MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEMKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDILAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIRQIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVGRTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRRDGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRGQTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVETERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKPVQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVAQGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKVSCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNALTSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSRIPQPVRHHPPVLVSSAASSQAEADKMSGTSTPGPSLPPPGAAPEAGPSAPSRRPPGADAEGSEREAEPIPKMKVLESPRKGAANASGSSPDAPAKDARASLGTLPLGKPRAGAASPLNSPLSSAVPSLGKEPFPPSSPLQKGGSFWSSIPASPASRPGSFTFPGDSDSLQRQTPRHAAPGKDTDRMSTCSSASEQSVQSTQSNGSESSSSSNISTMLVTHDYTAVKEDEINVYQGEVVQILASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIVENPDGTLKKSTSWHTALRLRKKSEKKDKDGKREGKLENGYRKSREGLSNKVSVKLLNPNYIYDVPPEFVIPLSEVTCETGETVVLRCRVCGRPKASITWKGPEHNTLNNDGHYSISYSDLGEATLKIVGVTTEDDGIYTCIAVNDMGSASSSASLRVLGPGMDGIMVTWKDNFDSFYSEVAELGRGRFSVVKKCDQKGTKRAVATKFVNKKLMKRDQVTHELGILQSLQHPLLVGLLDTFETPTSYILVLEMADQGRLLDCVVRWGSLTEGKIRAHLGEVLEAVRYLHNCRIAHLDLKPENILVDESLAKPTIKLADFGDAVQLNTTYYIHQLLGNPEFAAPEIILGNPVSLTSDTWSVGVLTYVLLSGVSPFLDDSVEETCLNICRLDFSFPDDYFKGVSQKAKEFVCFLLQEDPAKRPSAALALQEQWLQAGNGRSTGVLDTSRLTSFIERRKHQNDVRPIRSIKNFLQSRLLPRV",
"length": 3097,
"header": "sp|O75962-1|TRIO_HUMAN Isoform 1 of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=2 CANONICAL=O75962-1"
},
"locus": {
"chromosome": "5",
"start_pos": 14508419,
"end_pos": 14143726,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000344204.9",
"url": "https://www.ensembl.org/id/ENST00000344204.9"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000339299.4",
"url": "https://www.ensembl.org/id/ENSP00000339299.4"
}
]
}
},
{
"isoform_ac": "O75962-2",
"url": "",
"sequence": {
"sequence": "MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEMKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDILAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIRQIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVGRTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRRDGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRGQTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVETERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKPVQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVAQGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKVSCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNALTSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSRIPQPVRHHPPVLVSSAASSQAEADKMSESESSSSSNISTMLVTHDYTAVKEDEINVYQGEVVQILASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIVENPDGTLKKSTSWHTALRLRKKSEKKDKDGKREGKLENGYRKSREGLSNKVSVKLLNPNYIYDVPPEFVIPLSEVTCETGETVVLRCRVCGRPKASITWKGPEHNTLNNDGHYSISYSDLGEATLKIVGVTTEDDGIYTCIAVNDMGSASSSASLRVLGPGMDGIMVTWKDNFDSFYSEVAELGRGRFSVVKKCDQKGTKRAVATKFVNKKLMKRDQVTHELGILQSLQHPLLVGLLDTFETPTSYILVLEMADQGRLLDCVVRWGSLTEGKIRAHLGEVLEAVRYLHNCRIAHLDLKPENILVDESLAKPTIKLADFGDAVQLNTTYYIHQLLGNPEFAAPEIILGNPVSLTSDTWSVGVLTYVLLSGVSPFLDDSVEETCLNICRLDFSFPDDYFKGVSQKAKEFVCFLLQEDPAKRPSAALALQEQWLQAGNGRSTGVLDTSRLTSFIERRKHQNDVRPIRSIKNFLQSRLLPRV",
"length": 2921,
"header": "sp|O75962-2|TRIO_HUMAN Isoform 2 of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=2 CANONICAL=O75962-1"
},
"locus": {}
},
{
"isoform_ac": "O75962-3",
"url": "",
"sequence": {
"sequence": "MLPSQAQGLLWWVFPLFPASSLSYPPVSYRADGLARNTFLKACSESSSSSNISTMLVTHDYTAVKEDEINVYQGEVVQILASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIVENPDGTLKKSTSWHTALRLRKKSEKKDKDGKREGKLENGYRKSREGLSNKVSVKLLNPNYIYDVPPEFVIPLSEVTCETGETVVLRCRVCGRPKASITWKGPEHNTLNNDGHYSISYSDLGEATLKIVGVTTEDDGIYTCIAVNDMGSASSSASLRVLGPGMDGIMVTWKDNFDSFYSEVAELGRGRFSVVKKCDQKGTKRAVATKFVNKKLMKRDQVTHELGILQSLQHPLLVGLLDTFETPTSYILVLEMADQGRLLDCVVRWGSLTEGKIRAHLGEVLEAVRYLHNCRIAHLDLKPENILVDESLAKPTIKLADFGDAVQLNTTYYIHQLLGNPEFAAPEIILGNPVSLTSDTWSVGVLTYVLLSGVSPFLDDSVEETCLNICRLDFSFPDDYFKGVSQKAKEFVCFLLQEDPAKRPSAALALQEQWLQAGNGRSTGVLDTSRLTSFIERRKHQNDVRPIRSIKNFLQSRLLPRV",
"length": 596,
"header": "sp|O75962-3|TRIO_HUMAN Isoform 3 of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=2 CANONICAL=O75962-1"
},
"locus": {}
},
{
"isoform_ac": "O75962-4",
"url": "",
"sequence": {
"sequence": "MKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDILAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIRQIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVGRTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRRDGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRGQTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVETERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKPVQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVAQGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKVSCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNALTSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSRIPQPVRHHPPVLVSSAASSQAEADKMSGTSTPGPSLPPPGAAPEAGPSAPSRRPPGADAEGSEREAEPIPKMKVLESPRKGAANASGSSPDAPAKDARASLGTLPLGKPRAGAASPLNSPLSSAVPSLGKEPFPPSSPLQKGGSFWSSIPASPASRPGSFTFPGDSDSLQRQTPRHAAPGKDTDRMSTCSSASEQSVQSTQSNGSESSSSSNISTMLVTHDYTAVKEDEINVYQGEVVQILASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIVENPDGTLKKSTSWHTALRLRKKSEKKDKDGKREGKLENGYRKSREGLSNKVSVKLLNPNYIYDVPPEFVIPLSEVTCETGETVVLRCRVCGRPKASITWKGPEHNTLNNDGHYSISYSDLGEATLKIVGVTTEDDGIYTCIAVNDMGSASSSASLRVLGPGMDGIMVTWKDNFDSFYSEVAELGRGRFSVVKKCDQKGTKRAVATKFVNKKLMKRDQVTHELGILQSLQHPLLVGLLDTFETPTSYILVLEMADQGRLLDCVVRWGSLTEGKIRAHLGEVLEAVRYLHNCRIAHLDLKPENILVDESLAKPTIKLADFGDAVQLNTTYYIHQLLGNPEFAAPEIILGNPVSLTSDTWSVGVLTYVLLSGVSPFLDDSVEETCLNICRLDFSFPDDYFKGVSQKAKEFVCFLLQEDPAKRPSAALALQEQWLQAGNGRSTGVLDTSRLTSFIERRKHQNDVRPIRSIKNFLQSRLLPRV",
"length": 3038,
"header": "sp|O75962-4|TRIO_HUMAN Isoform 4 of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=2 CANONICAL=O75962-1"
},
"locus": {}
},
{
"isoform_ac": "O75962-5",
"url": "",
"sequence": {
"sequence": "MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEMKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDILAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIRQIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVGRTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRRDGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRGQTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVETERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKPVQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVAQGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKVSCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNALTSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSRIPQPVRHHPPVLVSSAASSQAEADKMSGTSTPGPSLPPPGAAPEAGPSAPSRRPPGADAEGSEREAEPIPKMKVLESPRKGAANASGSSPDAPAKDARASLGTLPLGKPRAGAASPLNSPLSSAVPSLGKEPFPPSSPLQKGGSFWSSIPASPASRPGSFTFPGDSDSLQRQTPRHAAPGKDTDRMSTCSSASEQSVQSTQSNGVSASGGPRPPAPLPLSRQL",
"length": 2563,
"header": "sp|O75962-5|TRIO_HUMAN Isoform 5 of Triple functional domain protein OS=Homo sapiens OX=9606 GN=TRIO PE=1 SV=2 CANONICAL=O75962-1"
},
"locus": {}
}
],
"glycosylation": [
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 2291,
"start_aa": "Ser",
"end_pos": 2291,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser2291",
"evidence": [
{
"id": "O75962",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75962"
},
{
"id": "37217939",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/37217939"
},
{
"id": "38253038",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/38253038"
}
]
}
],
"phosphorylation": [
{
"start_pos": 1627,
"end_pos": 1627,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"site_lbl": "Ser1627"
},
{
"start_pos": 1632,
"end_pos": 1632,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"site_lbl": "Ser1632"
},
{
"start_pos": 1633,
"end_pos": 1633,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"site_lbl": "Ser1633"
},
{
"start_pos": 1779,
"end_pos": 1779,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O75962",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75962"
},
{
"database": "PubMed",
"id": "19664994",
"url": "https://glygen.org/publication/PubMed/19664994"
}
],
"site_lbl": "Ser1779"
},
{
"start_pos": 1824,
"end_pos": 1824,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "Phosphothreonine",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"site_lbl": "Thr1824"
},
{
"start_pos": 1903,
"end_pos": 1903,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O75962",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75962"
},
{
"database": "PubMed",
"id": "17081983",
"url": "https://glygen.org/publication/PubMed/17081983"
}
],
"site_lbl": "Thr1903"
},
{
"start_pos": 2281,
"end_pos": 2281,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O75962",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75962"
},
{
"database": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
}
],
"site_lbl": "Thr2281"
},
{
"start_pos": 2282,
"end_pos": 2282,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "18669648",
"url": "https://glygen.org/publication/PubMed/18669648"
},
{
"database": "iPTMnet",
"id": "O75962",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75962"
}
],
"site_lbl": "Ser2282"
},
{
"start_pos": 2417,
"end_pos": 2417,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O75962",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75962"
},
{
"database": "PubMed",
"id": "19664994",
"url": "https://glygen.org/publication/PubMed/19664994"
}
],
"site_lbl": "Ser2417"
},
{
"start_pos": 2429,
"end_pos": 2429,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O75962",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75962"
},
{
"database": "PubMed",
"id": "19651622",
"url": "https://glygen.org/publication/PubMed/19651622"
}
],
"site_lbl": "Ser2429"
},
{
"start_pos": 2440,
"end_pos": 2440,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O75962",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75962"
},
{
"database": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
}
],
"site_lbl": "Ser2440"
},
{
"start_pos": 2455,
"end_pos": 2455,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
},
{
"database": "PubMed",
"id": "18669648",
"url": "https://glygen.org/publication/PubMed/18669648"
},
{
"database": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
},
{
"database": "PubMed",
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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149",
"resource": "Reactome",
"description": "RAC1 GTPase cycle"
},
{
"id": "R-HSA-9013404",
"name": "RAC2 GTPase cycle",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013404",
"resource": "Reactome",
"description": "RAC2 GTPase cycle"
},
{
"id": "R-HSA-9013408",
"name": "RHOG GTPase cycle",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408",
"resource": "Reactome",
"description": "RHOG GTPase cycle"
},
{
"id": "R-HSA-9013409",
"name": "RHOJ GTPase cycle",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409",
"resource": "Reactome",
"description": "RHOJ GTPase cycle"
},
{
"id": "R-HSA-9013423",
"name": "RAC3 GTPase cycle",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013423",
"resource": "Reactome",
"description": "RAC3 GTPase cycle"
}
],
"orthologs": [
{
"uniprot_canonical_ac": "F1M0Z1-1",
"protein_name": "Triple functional domain protein",
"gene_name": "Trio",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MSGSSGGATAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEMKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRMRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHIALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNAAHMLSRLEELQDVLAKKELPQDLEGARNMIDEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGASHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIKQIANQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVSMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVGRTPTSDNKIVLKASSIENKQDWIKHIREVIQERTVHLRGALKEPIHIPKTAPAARQKGRRDGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRGQTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVSSNDASPPASVASLQPHMMGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHAKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETIEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKCSLSLKRRHYVLQELVETERDYVRDLGCVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKHERRLHMYIVYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKPVQRIMKYQLLLKDFLKYSKKASLDTSELEKAVEVMCIVPKRCNDMMNVGRLQGFDGKIVAQGKLLLQDTFLVTDQDAGLLPRCKERRVFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKVSCLCLEENVESDPCKFALTSRTGDAVETFILHSSSPSVRQTWIHEINQILENQRNFLNALTSPIEYQRNHSGGGGSGSGGSSGGGGGSGGSGASSGGSSSHGSGPSSCSSGPSSSRSRPSRIPQPVRHHPPMLVSSAASSQAEADKMSGMSAPSPSLPTPSNSLALEASLGQPSRLPLSGDSEGHERETEPIPKMKVMESPRKALGSTSGTSQDGNTKDARGNLGPLPLGKTRPGAVSPLNSPLSTTFPSPFGKEAFPPSSPLQKGGSFWSSIPASPASRPSSFTFPGDSDSLQRQTHRHAAPSKDTDRMSTCSSASEQSVQSTQSNGSESSSSSNISTMLVTHEYTAVKEDEINVYQGEVVQILASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIMENPDGTFKKSTSWHTALRLRKKSEKKDKDGKRDGKLENGYRKPREGLSNKLLNPNYIYDVPPEFVIPLSEVTCETGETVVFRCRVCGRPKASITWKGPEHNTLNNDDHYNISYSDVGEATLKIIGVSTEDDGVYTCIAVNDMGSASSSASLRVLGPGSDGIVVTWKDNFDAFYSEVAELGRGRFAVVKKCDQKGTKRAVATKFVNKKLMKRDQVTHELGILQNLQHPLFVSLLDTFETPTSYVLVLELADQGRLLDCVVRWGSLTEGKVRAHLGEVLEAVRYLHNCRIAHLDLKPENILVDQSLAKPTIKLTDFGDAVQLNTTYYIHQLLGNPEFAAPEIILGNPVSLTADTWSVGVLTYVLLSGVSPFLDDSVEETCLNICRLDFSFPEDYFQGVSQKAKEFVCFLLQEDPAKRPSAALALQEQWLQAGNGSGKGMGVLDTSRLTSFIERRKHQNDVRPIRSIKNFLQSRLLPRV",
"length": 3100
},
"evidence": [
{
"id": "45918535",
"url": "http://www.informatics.jax.org/homology/45918535",
"database": "MGI"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "Q0KL02-1",
"protein_name": "Triple functional domain protein",
"gene_name": "Trio",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MSGSSGGATAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEMKAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVCKRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHIALIIKPDNFWQKQRTNFGSSKFEFETNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEEYISNAAHMLSRLEELQDVLAKKELPQDLEGARNMIDEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSDSFPKKNSGSGNADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNKGLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIKQIANQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDLEDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDVIHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSLHRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFVRRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTTLQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKIKLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNNLTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHRKHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKTHQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTSEQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRNADVFLKYLHRNSVSMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQYVVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLIQLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQLDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLWEMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELLTCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTLIRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVGRTPTSDNKIVLKASSIENKQDWIKHIREVIQERTVHLRGALKEPIHIPKTAPAARQKGRRDGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRGQTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVSSNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHAKKLAHKHKKSREVRKSADAGSQKDSDDSAATPQDETIEERGRNEGLSSGTLSKSSSSGMQSCGEEEGEEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSKMALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKCSSLKRRHYVLQELVETERDYVRDLGCVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLEDPEKLGSLFVKHERRLHMYIVYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKPVQRIMKYQLLLKDFLKYSKKASLDTSELEKAVEVMCIVPKRCNDMMNVGRLQGFDGKIVAQGKLLLQDTFLVTDQDAGLLPRCKERRVFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKVSCLCLEENVESDPCKFALTSRTGDAVETFVLHSSSPSVRQTWIHEINQILENQRNFLNALTSPIEYQRNHSGGGGSGSGGSSGGGGGSGGSGASSGGSSSHGSGPSSCSSGPSSSRSRPSRIPQPVRHHPPMLVSSAASSQAEADKMSGMSAPSPSLPTPSSSLALEASLGQPSRLPLSGDSEGHERETEPIPKMKVMESPRKAPGSTSGTSQDGNTKDARGNLGSLPLGKTRPGAVSPLNSPLSTTFPSPFGKEAFPPSSPLQKGGSFWSSIPASPASRPSSFTFPGDSDSLQRQTHRHAAPSKDTDRMSTCSSASEQSVQSTQSNGEGSSSSNISTMLVTHEYTAVKEDEINVYQGEVVQILASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIMENPDGTLKKSTSWHTALRLRKKSEKKDKDGKRDGKLENGYRKPREGLSNKVSVKLLNPNYIYDVPPEFVIPLSEVTCETGETVVFRCRVCGRPKASITWKGPEHNTLNNDDHYSISYSDIGEATLKIIGVSTEDDGIYTCIAVNDMGSASSSASLRVLGPGSDGIVVTWKDNFDAFYSEVAELGRGRFAVVKKCDQKGTKRAVATKFVNKKLMKRDQVTHELGILQNLQHPLLVSLLDTFETPTSYVLVLEMADQGRLLDCVVRWGSLTEGKVRAHLGEVLEAVRYLHNCRIAHLDLKPENILVDQSLAKPTIKLADFGDAVQLNTTYYIHQLLGNPEFAAPEIILGNPVSLTADTWSVGVLTYVLLSGVSPFLDDSVEETCLNICRLDFSFPEDYFQGVSQKAKEFVCFLLQEDPAKRPSAALALQEQWLQAGNGSGKGTGVLDTSRLTSFIERRKHQNDVRPIRSIKNFLQSRLLPRV",
"length": 3102
},
"evidence": [
{
"id": "45918535",
"url": "http://www.informatics.jax.org/homology/45918535",
"database": "MGI"
}
],
"common_name": "Mouse"
}
],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 4,
"go_terms": [
{
"name": "guanyl-nucleotide exchange factor activity",
"id": "GO:0005085",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "protein serine/threonine kinase activity",
"id": "GO:0004674",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "ATP binding",
"id": "GO:0005524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "protein serine kinase activity",
"id": "GO:0106310",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 7,
"go_terms": [
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "glutamatergic synapse",
"id": "GO:0098978",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "presynaptic active zone",
"id": "GO:0048786",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "postsynapse",
"id": "GO:0098794",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "cell projection",
"id": "GO:0042995",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "extrinsic component of membrane",
"id": "GO:0019898",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019898",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 7,
"go_terms": [
{
"name": "phosphorylation",
"id": "GO:0016310",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "transmembrane receptor protein tyrosine phosphatase signaling pathway",
"id": "GO:0007185",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007185",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "regulation of small GTPase mediated signal transduction",
"id": "GO:0051056",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051056",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "neuron projection morphogenesis",
"id": "GO:0048812",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "negative regulation of fat cell differentiation",
"id": "GO:0045599",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "axon guidance",
"id": "GO:0007411",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
},
{
"name": "postsynaptic modulation of chemical synaptic transmission",
"id": "GO:0099170",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099170",
"evidence": [
{
"database": "UniProtKB",
"id": "O75962",
"url": "https://www.uniprot.org/uniprot/O75962"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 1011,
"end_pos": 1013,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1253,
"end_pos": 1255,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 226,
"end_pos": 228,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 2289,
"end_pos": 2291,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 2424,
"end_pos": 2426,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 2543,
"end_pos": 2545,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 2552,
"end_pos": 2554,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 2944,
"end_pos": 2946,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 529,
"end_pos": 531,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 746,
"end_pos": 748,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 751,
"end_pos": 753,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 840,
"end_pos": 842,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"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": [
"B2DD29-1",
"D3ZML2-1",
"O08875-1",
"O35831-1",
"D3ZHP7-1",
"D4A280-1",
"E9PTG8-1",
"O35832-1",
"O54748-1",
"P57760-1",
"Q62868-1",
"D3ZBE5-1",
"P59895-1",
"O55099-1",
"O88764-1",
"P59241-1",
"Q91XS8-1",
"Q63644-1",
"Q7TQP6-1",
"Q9Z2P5-1",
"P11345-1",
"P11275-1",
"F1LYY7-1",
"Q9JIH7-1",
"P14056-1",
"P35426-1",
"P51952-1",
"P63086-1",
"Q5U2X5-1",
"Q5XIT0-1",
"Q63117-1",
"F1M7Y5-1",
"P47196-1",
"P47197-1",
"P97874-1",
"Q03114-1",
"Q3MJK5-1",
"Q09137-1",
"Q4V8A3-1",
"P54645-1",
"Q63686-1",
"P08413-1",
"P0C1X8-1",
"P19139-1",
"D4A7V9-1",
"Q63184-1",
"Q63484-1",
"Q9Z1Z1-1",
"Q4KM34-1",
"Q4KM47-1",
"O08874-1",
"O70444-1",
"O88831-1",
"P0C0R5-1",
"P26794-1",
"P46892-1",
"Q66HE7-1",
"Q6XUX2-1",
"Q62915-1",
"Q63185-1",
"Q63470-1",
"Q62673-1",
"Q63433-1",
"P53669-1",
"P53670-1",
"Q63699-1",
"Q641Z4-1",
"Q91ZN7-1",
"A0A0G2K344-1",
"P18265-1",
"P39951-1",
"B2GUY1-1",
"B0LT89-1",
"A1A5Q6-1",
"F1LP90-1",
"O08815-1",
"O88850-1",
"P00539-1",
"P0C865-1",
"P27791-1",
"P63319-1",
"P68182-1",
"P97924-1",
"Q01986-1",
"Q06226-1",
"Q53UA7-1",
"Q62862-1",
"Q63454-1",
"Q63531-1",
"Q63562-1",
"Q63572-1",
"Q64617-1",
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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": [],
"enzyme_list": [
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],
"evidence": [
{
"id": "46608",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/46608"
}
]
},
{
"id": "R-HSA-205039",
"name": "p75NTR indirectly activates RAC and Cdc42 via a guanyl-nucleotide exchange factor",
"equation": "",
"summary": "Following NGF binding, p75NTR activates the RAC (Ras-related C3 botulinum toxin substrate) GTPase.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60229-1",
"Q5VST9-1",
"P63000-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-205039",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-205039"
}
]
},
{
"id": "R-HSA-400586",
"name": "G alpha (q) binds to Trio family RhoGEFs",
"equation": "",
"summary": "The Trio family of RhoA guanine nucleotide exchange factors (RhoGEFs) are directly activated by G alpha (q), possibly within a Gq:Trio:RhoA signalling complex, thereby linking Gq to RhoA-mediated processes such as cell migration, proliferation, and contraction. Like most other RhoGEFs, they have a tandem motif consisting of a Dbl homology (DH) and a pleckstrin homology (PH) domain. Trio and Duet have a number of other domains including an immunoglobin domains that may be involved in interacting with Rho, but the considerably smaller GEFT (p63RhoGEF) does not have any identifiable additional domains yet appears to be sufficient to mediate the activation of RhoA by G alpha (q). The structure represented by GEFT is proposed to represent the core of an ancient signal transduction pathway.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60229-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-400586",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400586"
}
]
},
{
"id": "R-HSA-418850",
"name": "Activation of Cdc42",
"equation": "",
"summary": "RhoGEF complexed with Netrin-1-DCC induces guanine nucleotide exchange by Cdc42, activating it. Activated Cdc42 activates N-WASP, which promotes the nucleation of F-actin via the Arp2/3 complex. Netrin-1, via DCC, influences cellular motility by regulating actin-based membrane extension through the activation of Cdc42.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P12931-1",
"P60953-2",
"Q05397-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-418850",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418850"
}
]
},
{
"id": "R-HSA-418856",
"name": "Activation of Rac1",
"equation": "",
"summary": "Rho GEF's DOCK180 and Trio directly associate with DCC, activate Rac-1 on DCC stimulation and cause cell spreading.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P12931-1",
"P63000-1",
"Q05397-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-418856",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418856"
}
]
},
{
"id": "R-HSA-418858",
"name": "RhoGTPase GEF's recruited to DCC",
"equation": "",
"summary": "When Netrin-1 binds to the DCC-NCK1 complex, a conformational change in NCK1 promotes interaction between the SH2 domain proteins, leading to recruitment and activation of RhoGEFs DOCK180 and Trio. These GEFs mediate Netrin-1 signaling in axon outgrowth and guidance through their ability to activate Rac1 and Cdc42.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P12931-1",
"Q05397-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-418858",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418858"
}
]
},
{
"id": "R-HSA-418865",
"name": "Recruitment of ABLIM to the plasma membrane",
"equation": "",
"summary": "Unc-115/AbLIM is a key regulator of lamellipodia and filopodia in the growth cone during axon pathfinding and acts downstream of Rac GTPase signaling. It acts as a scaffold to recruit other actin-modulating complexes involved in lamellipodia and filopodia. Unc-115/AbLIM is locally recruited to the plasma membrane by activated Rac1 and subsequently dephosphorylated on serine 617. Dephosphorylated Unc-115/AbLIM then might interact with other molecules at the plasma membrane to induce formation of lamellipodia and filopodia by reorganization of the actin cytoskeleton.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P12931-1",
"P63000-1",
"Q05397-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-418865",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418865"
}
]
},
{
"id": "R-HSA-418874",
"name": "Recruitment and activation of N-WASP by Cdc42",
"equation": "",
"summary": "The adaptor protein Nck-1 binds to DCC and recruits Rac-1, Cdc42 and their effectors PAK-1 and N-WASP to the activated receptor. Both Cdc42 and Nck-1 are activators of N-WASP. Cdc42 in its active GTP bound form binds to the CRIB domain of N-WASP and this interaction along with PIP2 results in the activation of N-WASP. Nck-1 activate N-WASP via binding of its SH3 domain to the proline rich domain of N-WASP. Nck-1 also possess an SH2 domain that associates directly with activated tyrosine kinase receptors which can phosphorylate N-WASP.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P12931-1",
"P60953-2",
"Q05397-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-418874",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418874"
}
]
},
{
"id": "R-HSA-419166",
"name": "GEFs activate RhoA,B,C",
"equation": "",
"summary": "Guanine nucleotide exchange factors (GEFs) activate GTPases by enhancing the exchange of bound GDP for GTP. Much evidence points to GEFs being critical mediators of Rho GTPase activation (Schmidt and Hall, 2002). Many GEFs are known to be highly specific for a particular GTPase, e.g. Fgd1/Cdc42 and p115RhoGEF/Rho (Hart et al., 1996, Zheng et al., 1996). Others have a broader spectrum and activate several GTPases, e.g. Vav1 for Rac, Rho, and Cdc42 (Hart et al, 1994).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60229-1",
"Q5VST9-1",
"P61586-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-419166",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419166"
}
]
},
{
"id": "R-HSA-8980691",
"name": "RHOA GEFs activate RHOA",
"equation": "",
"summary": "The following guanine nucleotide exchange factors (GEFs) were shown to bind RHOA and catalyze GDP to GTP exchange on RHOA, resulting in formation of the active RHOA:GTP complex (the high throughput study by Bagci et al. 2020 looked at preferential binding of GEFs to nucleotide-free RHOA mutant compared to wild type RHOA but did not examine guanine nucleotide exchange):
AKAP13 (Zheng et al. 1995; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
ARHGEF1 (Hart et al. 1996; Jaiswal et al. 2011; Jaiswal et al. 2013; Toffali et al. 2017; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
ARHGEF2 (Krendel et al. 2002; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
ARHGEF3 (Arthur et al. 2002; Sloan et al. 2012; M\u00fcller et al. 2020)
ARHGEF5 (Xie et al. 2005; Wang et al. 2009; supported by Bagci et al. 2020)
ARHGEF10 (Mohl et al. 2006; Aoki et al. 2009; M\u00fcller et al. 2020)
ARHGEF11 (R\u00fcmenapp et al. 1999; Jaiswal et al. 2011; Jaiswal et al. 2013; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
ARHGEF12 (Reuther et al. 2001; Jaiswal et al. 2011; Jaiswal et al. 2013; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
ARHGEF15 (Fukushima et al. 2016; M\u00fcller et al. 2020)
ARHGEF17 (R\u00fcmenapp et al. 2002; Mitin et al. 2012; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
ARHGEF19 (Wang et al. 2004; M\u00fcller et al. 2020)
ARHGEF25 (Sloan et al. 2012; M\u00fcller et al. 2020)
ARHGEF28 (van Horck et al. 2001; Jaiswal et al. 2011; Jaiswal et al. 2013; M\u00fcller et al. 2020)
ECT2 (Tatsumoto et al. 1999; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
MCF2 (Sloan et al. 2012; Jaiswal et al. 2013; M\u00fcller et al. 2020)
NET1 (Alberts and Treisman 1998; M\u00fcller et al. 2020)
NGEF (Zhang et al. 2007; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
OBSCN (Ford Speelman et al. 2009)
PLEKHG5 (de Toledo et al. 2001; Liu and Horowitz 2006; M\u00fcller et al. 2020)
PLEKHG6 (M\u00fcller et al. 2020)
RASGRF2 (M\u00fcller et al. 2020)
TRIO (TRIO and KALRN possess two GEF domains, the N-terminal GEF1 and the C-terminal GEF2; Debant et al. 1996 demonstrated activation of RHOA by the C-terminal GEF2 domain of TRIO, while Peurois et al. 2017 demonstrated activation of RHOA by the N-terminal GEF1 domain of TRIO in the presence of membranes, Williams et al. 2007 showed that in C-elegans GNAQ-mediated activation of TRIO results in RHOA activation that drived locomotion and egg laying, and Bagci et al. 2020 reported binding of inactive RHOA mutant to the full-length TRIO; Debant et al. 1996 and Jaiswal et al. 2013 showed that the N-terminal GEF1 domain of TRIO does not activate RHOA; M\u00fcller et al. 2020 detected no activation of RHOA in the presence of full-length TRIO, but in this study HEK293 cells were used, which were previously shown by Williams et al. 2007 to have a low TRIO-activation ability downstream of GNAQ)
VAV1 (Heo et al. 2005; M\u00fcller et al. 2020)
VAV2 (Heo et al. 2005; Sloan et al. 2012; Schuebel et al. 1998; Jaiswal et al. 2013; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
VAV3 (Movilla and Bustelo 1999, Sachdev et al. 2002; M\u00fcller et al. 2020)
They are annotated as RHOA GEF set members.
The following GEFs were shown to bind and activate RHOA in some but not all studies, or have not been sufficiently studied, and are annotated as candidate RHOA GEFs:
ABR (Chuang et al. 1995, Manser et al. 1998: activation of RHOA; M\u00fcller et al. 2020: no activation of RHOA)
ARHGEF4 (M\u00fcller et al. 2020: activation of RHOA; Gotthardt and Ahmadian 2007, Anderson and Hamann 2012, Jaiswal et al. 2013: no activation of RHOA)
ARHGEF7 (Manser et al. 1998: activation of RHOA; Jones and Katan 2007, M\u00fcller et al. 2020: no activation of RHOA; Bagci et al. 2020: no binding to RHOA)
ARHGEF10L (Winkler et al. 2005: activation of RHOA; M\u00fcller et al. 2020: no activation of RHOA)
ARHGEF18 (Niu et al. 2003, Blomquist et al. 2000: activation of RHOA; M\u00fcller et al. 2020: no activation of RHOA)
ARHGEF40 (Curtis et al. 2004: activation of RHOA; M\u00fcller et al. 2020: no activation of RHOA; Bagci et al. 2020: no binding to RHOA)
BCR (Chuang et al. 1995: activation of RHOA; Bagci et al. 2020: binding to RHOA; M\u00fcller et al. 2020: no activation of RHOA)
DEF6 (Mavrakis et al. 2004: probable GEF, in vitro GEF activity not tested)
DOCK2 (Toffali et al. 2017: inconclusive; M\u00fcller et al. 2020: no activation of RHOA)
FARP1 (Koyano et al. 2001: activation of RHOA; M\u00fcller et al. 2020: no activation of RHOA; Bagci et al. 2020: inconclusive binding to RHOA)
KALRN (Penzes et al. 2001: the C-terminal GEF2 domain of KALRN binds RHOA and activates it, although activation was not demonstrated in vitro, while the N-terminal GEF1 domain of KALRN does not bind to RHOA; Wu et al. 2013: no effect on RHOA activity in mice with heterozygous Kalrn gene knockout; M\u00fcller et al. 2020: no activation of RHOA by full-length KALRN)
MCF2L (Whitehead et al. 1999, Sloan et al. 2012, Jaiswal et al. 2013, M\u00fcller et al. 2020: activation of RHOA; Bagci et al. 2020: no binding to RHOA)
PLEKHG3 (Bagci et al. 2020: binding to RHOA, RHOA activation not tested; M\u00fcller et al. 2020: no activation of RHOA)
PLEKHG4 (Gupta et al. 2013: activation of RHOA; M\u00fcller et al. 2020: no activation of RHOA; Bagci et al. 2020: no binding to RHOA)
PREX1 (Jaiswal et al. 2013: activation of RHOA; Marei et al. 2016, M\u00fcller et al. 2020: no activation of RHOA)
PREX2 (M\u00fcller et al. 2020: activation of RHOA; Joseph and Norris 2005: no activation of RHOA)
TIAM1 (Michiels et al. 1995: activation of RHOA; Jaiswal et al. 2013, M\u00fcller et al. 2020: no activation of RHOA; Bagci et al. 2020: no binding to RHOA)
The following GEFs do not act on RHOA or have been reported to not bind to RHOA, as indicated, without testing for activity:
ALS2 (M\u00fcller et al. 2020)
ARHGEF6 (Ramakers et al. 2012; M\u00fcller et al. 2020)
ARHGEF9 (Reid et al. 1999; Jaiswal et al. 2013; M\u00fcller et al. 2020)
ARHGEF16 (Hiramoto Yamaki et al. 2010; M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
ARHGEF26 (Ellerbroek et al. 2004; M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
ARHGEF39 (M\u00fcller et al. 2020)
DNMBP (Jaiswal et al. 2013; M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
DOCK1 (C\u00f4t\u00e9 and Vuori 2002; M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
DOCK3 (M\u00fcller et al. 2020)
DOCK4 (M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
DOCK5 (M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
DOCK6 (M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
DOCK7 (M\u00fcller et al. 2020; no binding to RHOA byBagci et al. 2020)
DOCK8 (M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
DOCK9 (Ruiz Lafuente et al. 2015; M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
DOCK10 (Ruiz Lafuente et al. 2015; M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
DOCK11 (Ruiz Lafuente et al. 2015; M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
ECT2L (M\u00fcller et al. 2020)
FARP2 (Kubo et al. 2002; M\u00fcller et al. 2020);
FGD1 (Olson et al. 1996; M\u00fcller et al. 2020)
FGD2 (Huber et al. 2008; M\u00fcller et al. 2020)
FGD3 (M\u00fcller et al. 2020)
FGD5 (M\u00fcller et al. 2020)
FGD6 (M\u00fcller et al. 2020)
FGD4 (Umikawa et al. 1999; M\u00fcller et al. 2020)
GNA13 (Teo et al. 2016)
ITSN1 (Hussain et al. 2001; Jaiswal et al. 2013; M\u00fcller et al. 2020)
ITSN2 (M\u00fcller et al. 2020)
MCF2L2 (M\u00fcller et al. 2020)
PLEKHG1 (Abiko et al. 2015; M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
PLEKHG2 (Ueda et al. 2008; M\u00fcller et al. 2020; no binding to RHOA by Bagci et al. 2020)
PLEKHG4B (M\u00fcller et al. 2020)
SOS1 (Nimnual et al. 1998; M\u00fcller et al. 2020)
SOS2 (Nimnual et al. 1998; M\u00fcller et al. 2020)
SPATA13 (Hamann et al. 2007; Kawasaki et al. 2007; Bristow et al. 2009; M\u00fcller et al. 2020)
SWAP70 (Ocana Morgner et al. 2009; no binding to RHOA by Bagci et al. 2020)
TIAM2 (M\u00fcller et al. 2020)",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60229-1",
"Q5VST9-1",
"P61586-1",
"P11274-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-8980691",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980691"
}
]
},
{
"id": "R-HSA-9013143",
"name": "RAC1 GEFs activate RAC1",
"equation": "",
"summary": "The following guanine nucleotide exchange factors (GEFs) were shown to bind RAC1 and catalyze GDP to GTP exchange on RAC1, resulting in formation of the active RAC1:GTP complex (the high throughput study by Bagci et al. examined binding of GEFs to inactive RAC1 mutant without testing for RAC1-directed GEF activity and is cited as supporting evidence):
DOCK3 (Namekata et al. 2004, Yang et al. 2012, Namekata et al. 2012; M\u00fcller et al. 2020)
FGD5 (M\u00fcller et al. 2020)
GNA13 (Radhika et al. 2004)
PLEKHG6 (M\u00fcller et al. 2020)
PREX1 (Yoshizawa et al. 2005; Dong et al. 2005; Marei et al. 2016; Jaiswal et al. 2013; M\u00fcller et al. 2020)
PREX2 (Joseph and Norris 2005; M\u00fcller et al. 2020)
RASGRF2 (Schwechter et al. 2013; M\u00fcller et al. 2020)
SWAP70 (Shinohara et al. 2002; Gupta et al. 2003; Baranov et al. 2016; Bagci et al. 2020: binding to inactive RAC1)
TIAM2 (Matsuo et al. 2002; M\u00fcller et al. 2020)
TRIO (Debant et al. 1996; Moshfegh et al. 2014; Peurois et al. 2017; Jaiswal et al. 2013: RAC1-directed GEF acivity of the N-terminal GEF1 domain of TRIO; M\u00fcller et al. 2020: RAC1-directed GEF activity of the full-length TRIO; Bagci et al. 2020: binding of full-length TRIO to inactive RAC1)
VAV1 (Teramoto et al. 1997; Heo et al. 2005; Aghazadeh et al. 2000; Crespo et al. 1997; M\u00fcller et al. 2020)
VAV2 (Itoh et al. 2008; Aoki et al. 2005; Heo et al. 2005; Jaiswal et al. 2013; M\u00fcller et al. 2020; Bagci et al. 2020: binding to inactive RAC1)
The following GEFs were shown to bind and activate RAC1 in some but not all studies and are annotated as candidate RAC1 GEFs (or were shown, in the high throughput screen by Bagci et al. 2020, to bind to nucleotide free RAC1 mutant, as indicated):
ABR (Chuang et al. 1995: RAC1-directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
ALS2 (Topp et al. 2004, Kanekura et al. 2005, Topp et al. 2005: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
ARHGEF4 (Itoh et al. 2008: RAC1 directed GEF activity; Anderson and Hamann 2012, Gotthardt and Ahmadian 2007, Jaiswal et al. 2013, M\u00fcller et al. 2020: no RAC1 directed GEF activity)
ARHGEF5 (Xie et al. 2005: RAC1 directed GEF activity; Wang et al. 2009, M\u00fcller et al. 2020: no RAC1 directed GEF activity; Bagci et al. 2020: no binding to inactive RAC1)
ARHGEF6 (Manser et al. 1998, Ramakers et al. 2012: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
ARHGEF7 (Ten Klooster et al. 2006, Manser et al. 1998: RAC1 directed GEF activity; Bagci et al. 2020: binding to inactive RAC1; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
ARHGEF10 (M\u00fcller et al. 2020: RAC1 directed GEF activity; Mohl et al. 2006: no RAC1 directed GEF activity)
ARHGEF11 (Bagci et al. 2020: binding to inactive RAC1; R\u00fcmenapp et al. 1999; Jaiswal et al. 2011; Jaiswal et al. 2013; M\u00fcller et al. 2020: no RAC1 directed GEF activity:)
ARHGEF15 (Fukushima et al. 2016: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
ARHGEF18 (Niu et al. 2003: RAC1 directed GEF activity; Blomquist et al. 2000, M\u00fcller et al. 2020: no RAC1 directed GEF activity)
ARHGEF19 (Wang et al. 2004: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
ARHGEF25 (Guo et al. 2003: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
ARHGEF39 (Zhou et al. 2018: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
BCR (Chuang et al. 1995: RAC1 directed GEF activity; Bagci et al. 2020 binding to inactive RAC1; Korus et al. 2002, M\u00fcller et al. 2020: no RAC1 directed GEF activity)
DEF6 (Mavrakis et al. 2004: activation of RAC1, GEF activity of DEF6 has not been examined in vitro)
DOCK1 (Cote and Vuori 2002, Li et al. 2003: RAC1 directed GEF activity; Bagci et al. 2020: binding to inactive RAC1; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
DOCK2 (Kulkarni et al. 2011: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
DOCK4 (Abraham et al. 2015: RAC1-directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
DOCK5 (Omi et al. 2008, Vives et al. 2011, Ferrandez et al. 2017: RAC1 directed GEF activity; Bagci et al. 2020: binding to inactive RAC1; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
DOCK6 (Miyamoto et al. 2007: RAC1 directed GEF activity; Bagci et al. 2020: binding to inactive RAC1; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
DOCK7 (Kukimoto Niino et al. 2019, Yamauchi et al. 2008, Majewski et al. 2012, Zhou et al. 2013: RAC1 directed GEF activity; Bagci et al. 2020: binding to inactive RAC1; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
DOCK8 (Wang et al. 2015: RAC1 directed GEF activity; Bagci et al. 2020: no binding to inactive RAC1; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
DOCK9 (Bagci et al. 2020: binding to inactive RAC1; Kulkarni et al. 2011, M\u00fcller et al. 2020: no RAC1 directed GEF activity)
DOCK10 (Ruiz Lafuente et al. 2015, M\u00fcller et al. 2020: RAC1 directed GEF activity; Bagci et al. 2020: no binding to inactive RAC1)
DOCK11 (Bagci et al. 2020: binding to inactive RAC1; Lin et al. 2006, M\u00fcller et al. 2020: no RAC1 directed GEF activity)
ECT2 (Tatsumoto et al. 1999: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity; Bagci et al. 2020: no binding to inactive RAC1)
FARP1 (Cheadle and Biederer 2012: RAC1-directed GEF activity; Bagci et al. 2020: binding to inactive RAC1; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
FARP2 (Kubo et al. 2002: RAC1-directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
KALRN (Penzes et al. 2003, Wu et al. 2013: RAC1-directed GEF activity when using the N-terminal GEF1 domain of KALRN; M\u00fcller et al. 2020: no RAC1 directed GEF activity when using full-length KALRN)
MCF2 (Jaiswal et al. 2013, M\u00fcller et al. 2020: RAC1 directed GEF activity; Reuther et al. 2001: no RAC1 directed GEF activity);
MCF2L (Bagci et al. 2020: binding to inactive RAC1; Whitehead et al. 1999; Jaiswal et al. 2013; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
NGEF (Zhang et al. 2007: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity; Bagci et al. 2020: no binding to inactive RAC1)
PLEKHG1 (Abiko et al. 2015: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity; Bagci et al. 2020: no binding to inactive RAC1)
PLEKHG2 (Ueda et al. 2008: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity; Bagci et al. 2020: no binding to inactive RAC1)
PLEKHG3 (Nguyen et al. 2016: RAC1-directed GEF activity; Bagci et al. 2020: binding to inactive RAC1; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
PLEKHG4 (Gupta et al. 2013: RAC1 directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity; Bagci et al. 2020: no binding to inactive RAC1)
SOS1 (Nimnual et al. 1998: RAC1 directed GEF activity; Itoh et al. 2008, M\u00fcller et al. 2020: no RAC1 directed GEF activity)
SOS2 (Nimnual et al. 1998: RAC1 directed GEF activity; Itoh et al. 2008, M\u00fcller et al. 2020: no RAC1 directed GEF activity)
SPATA13 (Kawasaki et al. 2007, Bristow et al. 2009: RAC1 directed GEF activity; Hamann et al. 2007, M\u00fcller et al. 2020: no RAC1 directed GEF activity)
TIAM1 (Itoh et al. 2008, Michiels et al. 1995, Haeusler et al. 2003, Jaiswal et al. 2013, M\u00fcller et al. 2020: RAC1 directed GEF activity; Bagci et al. 2020: no binding to inactive RAC1)
VAV3 (Movilla and Bustello 1999, Sachdev et al. 2002, Aoki et al. 2005: RAC1-directed GEF activity; M\u00fcller et al. 2020: no RAC1 directed GEF activity)
The following GEFs do not act on RAC1 or were shown to not bind to nucleotide-free RAC1 in the study by Bagci et al. 2020, as indicated:
AKAP13 (Zheng et al. 1995; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive RAC1)
ARHGEF1 (Hart et al. 1996; Jaiswal et al. 2013; Jaiswal et al. 2011; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive RAC1)
ARHGEF2 (Krendel et al. 2002; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive RAC1)
ARHGEF3 (Arthur et al. 2002; M\u00fcller et al. 2020)
ARHGEF9 (Reid et al. 1999; Jaiswal et al. 2013; M\u00fcller et al. 2020)
ARHGEF10L (Winkler et al. 2005; M\u00fcller et al. 2020)
ARHGEF12 (Reuther et al. 2001; Jaiswal et al. 2013; Jaiswal et al. 2011; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive RAC1)
ARHGEF16 (Hiramoto Yamaki et al. 2010; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive RAC1)
ARHGEF17 (R\u00fcmenapp et al. 2002; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive RAC1)
ARHGEF26 (Ellerbroek et al. 2004; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive RAC1)
ARHGEF28 (van Horck et al. 2001; Jaiswal et al. 2013; Jaiswal et al. 2011; M\u00fcller et al. 2020)
ARHGEF40 (Curtis et al. 2004; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive RAC1)
DNMBP (Jaiswal et al. 2013; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive RAC1)
ECT2L (M\u00fcller et al. 2020)
FGD1 (Olson et al. 1996; M\u00fcller et al. 2020)
FGD2 (Huber et al. 2008; M\u00fcller et al. 2020)
FGD3 (M\u00fcller et al. 2020)
FGD4 (Umikawa et al. 1999; M\u00fcller et al. 2020)
FGD6 (M\u00fcller et al. 2020)
ITSN1 (Hussain et al. 2001; Jaiswal et al. 2013; M\u00fcller et al. 2020)
ITSN2 (M\u00fcller et al. 2020)
MCF2L2 (M\u00fcller et al. 2020)
NET1 (Alberts and Treisman 1998; M\u00fcller et al. 2020)
OBSCN (Ford Speelman et al. 2009)
PLEKHG4B (M\u00fcller et al. 2020)
PLEKHG5 (De Toledo et al. 2004; M\u00fcller et al. 2020)
PLEKHG7 (M\u00fcller et al. 2020)
RASGRF1 (M\u00fcller et al. 2020)",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60229-1",
"P63000-1",
"P11274-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-9013143",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013143"
}
]
},
{
"id": "R-HSA-9013159",
"name": "CDC42 GEFs activate CDC42",
"equation": "",
"summary": "The following guanine nucleotide exchange factors (GEFs) were shown to bind CDC42 and catalyze GDP to GTP exchange on CDC42, resulting in formation of the active CDC42:GTP complex (the high throughput study by Bagci et al. 2020 examined binding of GEFs to inactive CDC42 mutants without testing for CDC42-directed GEF activity and is cited as supporting evidence):
ARHGEF4 (also known as Asef) (Itoh et al. 2008; Anderson and Hamann 2012; Gotthardt and Ahmadian 2007; Jaiswal et al. 2013; M\u00fcller et al. 2020)
ARHGEF9 (also known as hPEM2) (Reid et al. 1999; Jaiswal et al. 2013; M\u00fcller et al. 2020)
ARHGEF15 (Fukushima et al. 2016; M\u00fcller et al. 2020)
DEF6 (Mavrakis et al. 2004)
DNMBP (also known as Tuba) (Salazar et al. 2003; Jaiswal et al. 2013; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
FGD1 (Olson et al. 1996; M\u00fcller et al. 2020)
FGD2 (Huber et al. 2008; M\u00fcller et al. 2020)
FGD3 (Hayakawa et al. 2008; M\u00fcller et al. 2020)
FGD4 (Umikawa et al. 1999; M\u00fcller et al. 2020)
MCF2 (Ueda et al. 2004; Jaiswal et al. 2013; M\u00fcller et al. 2020)
MCF2L (Ueda et al. 2004; Whitehead et al. 1999; Jaiswal et al. 2013; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
PLEKHG1 (Abiko et al. 2015; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
PLEKHG3 (Nguyen et al. 2016; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
PLEKHG4 (Gupta et al. 2013; M\u00fcller et al. 2020; supported by Bagci et al. 2020)
PLEKHG4B (M\u00fcller et al. 2020)
SPATA13 (Hamann et al. 2007; Kawasaki et al. 2007; Bristow et al. 2009; M\u00fcller et al. 2020)
The following GEFs; annotated as CDC42 candidate GEFs; were shown to activate CDC42 by some but not all studies (the high throughput study by Bagci et al. 2020 examined binding of GEFs to inactive CDC42 mutants without testing for CDC42-directed GEF activity and is cited as supporting evidence):
ABR (Chuang et al. 1995: CDC42-directed GEF activity; M\u00fcller et al. 2020: no CDC42-directed GEF activity)
ARHGEF5 (Xie et al. 2005: CDC42 directed GEF activity; M\u00fcller et al. 2020: no CDC42 directed GEF activity; Bagci et al. 2020: no binding to inactive CDC42)
ARHGEF6 (also known as alphaPIX or KIAA006) (Manser et al. 1998, Ramakers et al. 2012, Meseke et al. 2013: CDC42-directed GEF activity; M\u00fcller et al. 2020: no CDC42 directed GEF activity)
ARHGEF10 (M\u00fcller et al. 2020: CDC42 directed GEF activity; Mohl et al. 2006: no CDC42-directed GEF activity)
ARHGEF11 (Bagci et al. 2020: binding to inactive CDC42; R\u00fcmenapp et al. 1999, Jaiswal et al. 2011, Jaiswal et al. 2013, M\u00fcller et al. 2020: no CDC42 directed GEF activity)
ARHGEF12 (Bagci et al. 2020: binding to inactive CDC42; Reuther et al. 2001, Jaiswal et al. 2011, Jaiswal et al. 2013, M\u00fcller et al. 2020: no CDC42 directed GEF activity)
ARHGEF16 (Bagci et al. 2020: binding to inactive CDC42; Hiramoto Yamaki et al. 2010, M\u00fcller et al. 2020: no CDC42 directed GEF activity)
ARHGEF19 (Wang et al. 2004: CDC42-directed GEF activity; M\u00fcller et al. 2020: no CDC42-directed GEF activity)
ARHGEF25 (Guo et al. 2003: CDC42-directed GEF activity; M\u00fcller et al. 2020: no CDC42-directed GEF activity)
ARHGEF26 (M\u00fcller et al. 2020: CDC42 directed GEF activity; Bagci et al. 2020: binding to inactive CDC42; Ellerbroek et al. 2004: no CDC42 directed GEF activity)
BCR (Chuang et al. 1995; Korus et al. 2002: CDC42 directed GEF activity; M\u00fcller et al. 2020: no CDC42 directed GEF activity; Bagci et al. 2020: no binding to inactive CDC42)
DOCK6 (Miyamoto et al. 2007: CDC42 directed GEF activity; M\u00fcller et al. 2020: no CDC42 directed GEF activity; Bagci et al. 2020: no binding to inactive CDC42)
DOCK7 (Kukimoto Niino et al. 2019, Wilkes et al. 2014, Zhou et al. 2013, Yamauchi et al. 2008: CDC42-directed GEF activity; M\u00fcller et al. 2020: no CDC42-directed GEF activity; Bagci et al. 2020: no binding to inactive CDC42)
DOCK8 (Ruusala and Aspenstrom 2004, Harada et al. 2012, Martins et al. 2016, Xu et al. 2017: CDC42-directed GEF activity; Bagci et al. 2020: binding to inactive CDC42; M\u00fcller et al. 2020: no CDC42-directed GEF activity)
DOCK9 (also known as Zizimin1) (Meller et al. 2002, Cote and Vuori 2002, Kulkarni et al. 2011: CDC42-directed GEF activity; Bagci et al. 2020: binding to inactive CDC42; M\u00fcller et al. 2020: no CDC42-directed GEF activity)
DOCK10 (Gadea et al. 2008, Ruiz Lafuente et al. 2015: CDC42-directed GEF activity; Bagci et al. 2020: binding to inactive CDC42; M\u00fcller et al. 2020: no CDC42-directed GEF activity)
DOCK11 (Lin et al. 2006: CDC42-directed GEF activity; Bagci et al. 2020: binding to inactive CDC42; M\u00fcller et al. 2020: no CDC42-directed GEF activity)
ECT2 (Tatsumoto et al. 1999, Fortin et al. 2012: CDC42 directed GEF activity; M\u00fcller et al. 2020: no CDC42 directed GEF activity; Bagci et al. 2020: no binding to inactive CDC42)
FARP1 (Amado Azevedo et al. 2017: CDC42 directed GEF activity; M\u00fcller et al. 2020: no CDC42 directed GEF activity; Bagci et al. 2020: no binding to inactive CDC42)
GNA13 (Yan et al. 2015: GNA13 increases the amount of GTP-bound CDC42, but the evidence for direct effect is lacking)
ITSN1 (Hussain et al. 2001, Jaiswal et al. 2013: CDC42-directed GEF activity; M\u00fcller et al. 2020: no CDC42-directed GEF activity)
NGEF (Zhang et al. 2007: CDC42 directed GEF activity; M\u00fcller et al. 2020: no CDC42 directed GEF activity; Bagci et al. 2020: no binding to inactive CDC42)
PLEKHG2 (Ueda et al. 2008: CDC42-directed GEF activity; Bagci et al. 2020: binding to inactive CDC42; M\u00fcller et al. 2020: no CDC42-directed GEF activity)
PREX1 (Jaiswal et al. 2013: CDC42 directed GEF activity; Marei et al. 2016, M\u00fcller et al. 2020: no CDC42 directed GEF activity)
PREX2 (M\u00fcller et al. 2020: CDC42-directed GEF activity; Joseph and Norris 2005: no CDC42-directed GEF activity)
RASGRF2 (M\u00fcller et al. 2020: CDC42-directed GEF activity; Calvo et al. 2011: no CDC42-directed GEF activity)
TIAM1 (Michiels et al. 1995: CDC42 directed GEF activity; Itoh et al. 2008, Jaiswal et al. 2013, M\u00fcller et al. 2020: no CDC42 directed GEF activity; Bagci et al. 2020: no binding to inactive CDC42)
TRIO (Peurois et al. 2017, Fortin et al. 2012, Jaiswal et al. 2013: CDC42 directed GEF activity, the presence of membrane may be necessary; Debant et al. 1996: no CDC42-directed GEF activity of either the N-terminal GEF1 domain or the C-terminal GEF2 domain of TRIO in vitro; M\u00fcller et al. 2020: no CDC42 directed GEF activity of the full-length TRIO; Bagci et al. 2020: no binding of full-length TRIO to inactive CDC42)
VAV2 (Itoh et al. 2008, Aoki et al. 2005, Heo et al. 2005, Jaiswal et al. 2013: CDC42-directed GEF activity; Bagci et al. 2020: binding to inactive CDC42; M\u00fcller et al. 2020: no CDC42 directed GEF activity)
VAV3 (Sachdev et al. 2002; Aoki et al. 2005: CDC42 directed GEF activity; Movilla and Bustelo 1999, M\u00fcller et al. 2020: no CDC42 directed GEF activity)
The following GEFs do not act on CDC42 or were shown to not bind to inactive CDC42 mutant in the high throughput screen by Bagci et al. 2020):
AKAP13 (Zheng et al. 1995; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive CDC42)
ALS2 (M\u00fcller et al. 2020)
ARHGEF1 (Hart et al. 1996; Jaiswal et al. 2013; Jaiswal et al. 2011; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive CDC42)
ARHGEF2 (Krendel et al. 2002; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive CDC42)
ARHGEF3 (Arthur et al. 2002; M\u00fcller et al. 2020)
ARHGEF7 (Manser et al. 1998; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive CDC42)
ARHGEF10L (Winkler et al. 2005; M\u00fcller et al. 2020)
ARHGEF17 (R\u00fcmenapp et al. 2002; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive CDC42)
ARHGEF18 (Niu et al. 2003; Blomquist et al. 2000; M\u00fcller et al. 2020)
ARHGEF28 (van Horck et al. 2001; Jaiswal et al. 2011; Jaiswal et al. 2013; M\u00fcller et al. 2020)
ARHGEF39 (M\u00fcller et al. 2020)
ARHGEF40 (Curtis et al. 2004; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive CDC42)
DOCK1 (Cote and Vuori 2002; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive CDC42)
DOCK2 (Kulkarni et al. 2011; Kwofie and Skowronski 2008; M\u00fcller et al. 2020)
DOCK3 (Kwofie and Skowronski 2008; M\u00fcller et al. 2020)
DOCK4 (Kwofie and Skowronski 2008; Abraham et al. 2015; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive CDC42)
DOCK5 (Vives et al. 2011; M\u00fcller et al. 2020; Bagci et al. 2020: no binding to inactive CDC42)
ECT2L (M\u00fcller et al. 2020)
FARP2 (Kubo et al. 2002; M\u00fcller et al. 2020)
FGD5 (M\u00fcller et al. 2020)
FGD6 (M\u00fcller et al. 2020)
ITSN2 (M\u00fcller et al. 2020)
KALRN (Penzes et al. 2001; M\u00fcller et al. 2020)
MCF2L2 (M\u00fcller et al. 2020)
NET1 (Alberts and Treisman 1998; M\u00fcller et al. 2020)
OBSCN (Ford Speelman et al. 2009)
PLEKHG5 (De Toledo et al. 2001; M\u00fcller et al. 2020)
PLEKHG6 (M\u00fcller et al. 2020)
PLEKHG7 (M\u00fcller et al. 2020)
RASGRF1 (M\u00fcller et al. 2020)
SOS1 (Nimnual et al. 1998; M\u00fcller et al. 2020)
SOS2 (Nimnual et al. 1998; M\u00fcller et al. 2020)
SWAP70 (Bagci et al. 2020: no binding to inactive CDC42)
TIAM2 (M\u00fcller et al. 2020)
VAV1 (Aghazadeh et al. 2000; M\u00fcller et al. 2020)",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P60953-2",
"P11274-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-9013159",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013159"
}
]
},
{
"id": "R-HSA-9014296",
"name": "RAC2 GEFs activate RAC2",
"equation": "",
"summary": "The following guanine nucleotide exchange factors (GEFs) were shown to bind RAC2 and catalyze GDP to GTP exchange on RAC2, resulting in formation of the active RAC2:GTP complex:
ABR (Chuang et al. 1995)
BCR (Chuang et al. 1995)
DEF6 (Mavrakis et al. 2004)
DOCK2 (Sai et al. 2008; Kwofie and Skowronski 2008 )
MCF2 (Jaiswal et al. 2013)
PREX1 (Welch et al. 2005; Dong et al. 2005; Barber et al. 2007; Jaiswal et al. 2013)
TIAM1 (Haeusler et al. 2003; Niebel et al. 2013; Jaiswal et al. 2013)
TRIO (Newsome et al. 2000; Hakeda-Suzuki et al. 2002; Jaiswal et al. 2013)
VAV1 (Ming et al. 2007; Miletic et al. 2007; Yin et al. 2011)
VAV2 (Arana et al. 2008; Jaiswal et al. 2013)
VAV3 (Flannagan et al. 2014)
The following GEFs are annotated as candidate RAC2 GEFs since they were shown to bind RAC2, but their ability to activate RAC2 has not been tested:
DOCK1 (Kwofie and Skowronski 2008)
DOCK3 (Kwofie and Skowronski 2008)
DOCK4 (Kwofie and Skowronski 2008)
DOCK10 (Ruiz-Lafuente et al. 2015)
SWAP70 (Sivalenka and Jessberger 2004)
The following RHO GEFs do not act on RAC2:
ARHGEF1 (Jaiswal et al. 2013)
ARHGEF11 (Jaiswal et al. 2013)
ARHGEF12 (Jaiswal et al. 2013)
ARHGEF28 (Jaiswal et al. 2013)
ARHGEF4 (Gotthardt and Ahmadian 2007; Jaiswal et al. 2013)
ARHGEF9 (Jaiswal et al. 2013)
DNMBP (Jaiswal et al. 2013)
DOCK9: (Kwofie and Skowronski 2008)
DOCK11 (Ruiz-Lafuente et al. 2015)
ITSN1 (Jaiswal et al. 2013)
MCF2L (Jaiswal et al. 2013)
PLEKHG5 (De Toledo et al. 2001)",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11274-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-9014296",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9014296"
}
]
},
{
"id": "R-HSA-9014433",
"name": "RHOG GEFs activate RHOG",
"equation": "",
"summary": "The following guanine nucleotide exchange factors (GEFs) were shown to bind RHOG and catalyze GDP to GTP exchange on RHOG, resulting in formation of the active RHOG:GTP complex:
ITSN1 (Jaiswal et al. 2013)
KALRN (May et al. 2002)
MCF2 (Zheng et al. 1995; Movilla and Bustelo 1999)
PREX1 (Damoulakis et al. 2014; Jaiswal et al. 2013)
TRIO (Blangy et al. 2000; Estrach et al. 2002; Peurois et al. 2017; Jaiswal et al. 2013; supported by interaction of TRIO with inactive RHOG mutant reported by Bagci et al. 2020)
VAV1 (Schuebel et al. 1998)
VAV3 (Movilla and Bustelo 1999)
The following GEFs, annotated as RHOG candidate GEFs, were shown to activate RHOG in some, but not all studies:
ARHGEF16 (Hiramoto Yamaki et al. 2010; Harada et al. 2011: RHOG directed GEF activity; Bagci et al. 2020: no binding to inactive RHOG)
ARHGEF26 (Ellerbroek et al. 2004: RHOG directed GEF activity; Bagci et al. 2020: no binding to inactive RHOG)
ARHGEF5 (Wang et al. 2009: weak RHOG directed GEF activity; Bagci et al. 2020: no binding to inactive RHOG)
MCF2L (Wennerberg et al. 2002; Jaiswal et al. 2013: RHOG directed GEF activity; Bagci et al. 2020: no binding to inactive RHOG)
VAV2 (Schuebel et al. 1998; Wennerberg et al. 2002; Jaiswal et al. 2013: RHOG directed GEF activity; Bagci et al. 2020: no binding to inactive RHOG)
The following GEFs were shown to either not act on RHOG or to not bind to inactive RHOG mutant in the high throughput screen by Bagci et al. 2020:
AKAP13 (Bagci et al. 2020)
ARHGEF1 (Bagci et al. 2020)
ARHGEF11 (Jaiswal et al. 2013; Bagci et al. 2020)
ARHGEF12 (Jaiswal et al. 2013; Bagci et al. 2020)
ARHGEF17 (Bagci et al. 2020)
ARHGEF2 (Bagci et al. 2020)
ARHGEF28 (Jaiswal et al. 2013)
ARHGEF3 (Arthur et al. 2002)
ARHGEF4 (Jaiswal et al. 2013)
ARHGEF40 (Bagci et al. 2020)
ARHGEF7 (Bagci et al. 2020)
ARHGEF9 (Jaiswal et al. 2013)
BCR (Bagci et al. 2020)
DNMBP (Jaiswal et al. 2013; Bagci et al. 2020)
DOCK6 (Bagci et al. 2020)
DOCK7 (Bagci et al. 2020)
DOCK8 (Bagci et al. 2020)
DOCK9 (Ruiz Lafuente et al. 2015; Bagci et al. 2020)
DOCK10 (Ruiz Lafuente et al. 2015)
DOCK11 (Ruiz Lafuente et al. 2015; Bagci et al. 2020)
ECT2 (Bagci et al. 2020)
FARP1 (Bagci et al. 2020)
NGEF (Bagci et al. 2020)
PLEKHG2 (Bagci et al. 2020)
PLEKHG3 (Bagci et al. 2020)
PLEKHG4 (Bagci et al. 2020)
PLEKHG5 (De Toledo et al. 2001)
SWAP70 (Bagci et al. 2020)
TIAM1 (Jaiswal et al. 2013; Bagci et al. 2020)",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60229-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-9014433",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9014433"
}
]
},
{
"id": "R-HSA-9017491",
"name": "RHOJ GEFs activate RHOJ",
"equation": "",
"summary": "DOCK8 guanine nucleotide exchange factors (GEFs) was shown to bind RHOJ and catalyze GDP to GTP exchange on RHOJ, resulting in formation of the active RHOJ:GTP complex (Ruusala and Aspenstrom 2004).
PREX1 (Jaiswal et al. 2013) and TRIO (Jaiswal et al. 2013) exhibited very low RHOJ-directed GEF activity, being hundred times and thousand times, respectively, less active on RHOJ than on CDC42 and RHOG. They are annotated as candidate RHOJ GEFs.
The following GEFs do not act on RHOJ:
ARHGEF1 (Jaiswal et al. 2013)
ARHGEF11 (Jaiswal et al. 2013)
ARHGEF12 (Jaiswal et al. 2013)
ARHGEF15 (Kusuhara et al. 2012)
ARHGEF28 (also known as p190RhoGEF, KIAA1998 or RGNEF) (Jaiswal et al. 2013)
ARHGEF4 (Jaiswal et al. 2013)
ARHGEF9 (Jaiswal et al. 2013)
DNMBP (Jaiswal et al. 2013)
DOCK9 (Nishikimi et al. 2005)
DOCK11 (Nishikimi et al. 2005)
ITSN1 (Jaiswal et al. 2013)
MCF2 (Jaiswal et al. 2013)
MCF2L (Jaiswal et al. 2013)
TIAM1 (Jaiswal et al. 2013)
VAV2 (Jaiswal et al. 2013)",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-9017491",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9017491"
}
]
},
{
"id": "R-HSA-9018804",
"name": "RAC3 GEFs activate RAC3",
"equation": "",
"summary": "The following guanine nucleotide exchange factors (GEFs) were shown to bind RAC3 and catalyze GDP to GTP exchange on RAC3, resulting in formation of the active RAC3:GTP complex:
MCF2 (Jaiswal et al. 2013)
PREX1 (Waters et al. 2008; Jaiswal et al. 2013)
TIAM1 (Haeusler et al. 2003)
TRIO (Jaiswal et al. 2013)
VAV2 (Rosenberg et al. 2017; Jaiswal et al. 2013)
DOCK10 is annotated as a candidate RAC3 GEF, because it binds to RAC3 but its ability to activate RAC3 is uncertain (Ruiz-Lafuente et al. 2015).
The following GEFs do not act on RAC3:
DOCK11 (Ruiz-Lafuente et al. 2015)
ITSN1 (Jaiswal et al. 2013)
MCF2L (Jaiswal et al. 2013)
PLEKHG5 (De Toledo et al. 2001)",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P60763-1",
"O75962-1"
],
"evidence": [
{
"id": "R-HSA-9018804",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018804"
}
]
}
],
"reaction_participants": [],
"reaction_enzymes": [
{
"uniprot_ac": "A0A087WRH8",
"gene_name": "Gm5157",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "A0A087WRH8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A087WRH8"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "A0A087WRH8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A087WRH8"
}
]
}
]
},
{
"uniprot_ac": "A0A087WSA6",
"gene_name": "Gm7358",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "A0A087WSA6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A087WSA6"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "A0A087WSA6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A087WSA6"
}
]
}
]
},
{
"uniprot_ac": "A0A087WSF2",
"gene_name": "Smok3c",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "A0A087WSF2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A087WSF2"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "A0A087WSF2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A087WSF2"
}
]
}
]
},
{
"uniprot_ac": "A0A0B4J2F2",
"gene_name": "SIK1B",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "A0A0B4J2F2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0B4J2F2"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "A0A0B4J2F2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0B4J2F2"
}
]
}
]
},
{
"uniprot_ac": "A0A0B4KHC3",
"gene_name": "PKD",
"activity": [
{
"ec_number": "2.7.11.13",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "A0A0B4KHC3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0B4KHC3"
}
]
},
{
"ec_number": "2.7.11.13",
"activity": "",
"evidence": [
{
"id": "A0A0B4KHC3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0B4KHC3"
}
]
}
]
},
{
"uniprot_ac": "A0A0B4KHT3",
"gene_name": "Lrrk",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "A0A0B4KHT3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0B4KHT3"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "A0A0B4KHT3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0B4KHT3"
}
]
}
]
},
{
"uniprot_ac": "A0A0B4KHX7",
"gene_name": "Gcn2",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "A0A0B4KHX7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0B4KHX7"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "A0A0B4KHX7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0B4KHX7"
}
]
}
]
},
{
"uniprot_ac": "A0A0G2JUP3",
"gene_name": "Obscn",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "A0A0G2JUP3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2JUP3"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "A0A0G2JUP3",
"database": "UniProtKB",
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{
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{
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{
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{
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