{ "uniprot_canonical_ac": "P04150-1", "uniprot_ac": "P04150", "uniprot_id": "GCR_HUMAN", "mass": { "chemical_mass": 85659.0, "monoisotopic_mass": 85659.0 }, "refseq": { "ac": "NP_000167", "name": "glucocorticoid receptor isoform alpha", "summary": "This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167" }, "gene_names": [ { "name": "NR3C1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04150", "id": "P04150" }, { "name": "GCCR; GCR; GCRST; GR; GRL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167", "id": "NP_000167" }, { "name": "GRL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04150", "id": "P04150" }, { "name": "NR3C1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167", "id": "NP_000167" } ], "protein_names": [ { "name": "Glucocorticoid receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04150" }, { "name": "GR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04150" }, { "name": "Nuclear receptor subfamily 3 group C member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04150" }, { "name": "glucocorticoid receptor isoform alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167", "id": "NP_000167" }, { "name": "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor); nuclear receptor subfamily 3 group C member 1 variant hGR-B(54); nuclear receptor subfamily 3 group C member 1 variant hGR-B(77); nuclear receptor subfamily 3 group C member 1 variant hGR-B(93)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167", "id": "NP_000167" } ], "function": [ { "annotation": "Acts as a dominant negative inhibitor of isoform Alpha (PubMed:7769088, PubMed:8621628, PubMed:20484466). Has intrinsic transcriptional activity independent of isoform Alpha when both isoforms are coexpressed (PubMed:19248771, PubMed:26711253). Loses this transcription modulator function on its own (PubMed:20484466). Has no hormone-binding activity (PubMed:8621628). May play a role in controlling glucose metabolism by maintaining insulin sensitivity (By similarity). Reduces hepatic gluconeogenesis through down-regulation of PEPCK in an isoform Alpha-dependent manner (PubMed:26711253). Directly regulates STAT1 expression in isoform Alpha-independent manner (PubMed:26711253).", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150#function" }, { "database": "PubMed", "id": "8621628", "url": "https://glygen.org/publication/PubMed/8621628" }, { "database": "PubMed", "id": "20484466", "url": "https://glygen.org/publication/PubMed/20484466" }, { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprot/P06537#function" }, { "database": "PubMed", "id": "19248771", "url": "https://glygen.org/publication/PubMed/19248771" }, { "database": "PubMed", "id": "26711253", "url": "https://glygen.org/publication/PubMed/26711253" }, { "database": "PubMed", "id": "7769088", "url": "https://glygen.org/publication/PubMed/7769088" } ] }, { "annotation": "Chromatin accessibility and pioneer factor FOXA1 restrict glucocorticoid receptor action in prostate cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167" }, { "database": "PubMed", "id": "38015476", "url": "https://glygen.org/publication/PubMed/38015476" } ] }, { "annotation": "Has highest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127). Mediates glucocorticoid-induced apoptosis (PubMed:23303127, PubMed:23820903).", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150#function" }, { "database": "PubMed", "id": "23820903", "url": "https://glygen.org/publication/PubMed/23820903" }, { "database": "PubMed", "id": "23303127", "url": "https://glygen.org/publication/PubMed/23303127" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] }, { "annotation": "Has lower transcriptional activation activity than isoform Alpha. Exerts a dominant negative effect on isoform Alpha trans-repression mechanism (PubMed:20484466).", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150#function" } ] }, { "annotation": "Has lowest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127).", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150#function" }, { "database": "PubMed", "id": "23820903", "url": "https://glygen.org/publication/PubMed/23820903" }, { "database": "PubMed", "id": "23303127", "url": "https://glygen.org/publication/PubMed/23303127" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] }, { "annotation": "Has transcriptional activation activity.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150#function" }, { "database": "PubMed", "id": "20484466", "url": "https://glygen.org/publication/PubMed/20484466" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] }, { "annotation": "Has transcriptional activation and repression activity (PubMed:15866175, PubMed:19248771, PubMed:20484466, PubMed:23820903, PubMed:11435610, PubMed:15769988, PubMed:17635946, PubMed:19141540, PubMed:21664385). Mediates glucocorticoid-induced apoptosis (PubMed:23303127). Promotes accurate chromosome segregation during mitosis (PubMed:25847991). May act as a tumor suppressor (PubMed:25847991). May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic gene expression (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150#function" }, { "database": "PubMed", "id": "11435610", "url": "https://glygen.org/publication/PubMed/11435610" }, { "database": "PubMed", "id": "20484466", "url": "https://glygen.org/publication/PubMed/20484466" }, { "database": "PubMed", "id": "21664385", "url": "https://glygen.org/publication/PubMed/21664385" }, { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprot/P06537#function" }, { "database": "PubMed", "id": "23820903", "url": "https://glygen.org/publication/PubMed/23820903" }, { "database": "PubMed", "id": "15769988", "url": "https://glygen.org/publication/PubMed/15769988" }, { "database": "PubMed", "id": "23303127", "url": "https://glygen.org/publication/PubMed/23303127" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" }, { "database": "PubMed", "id": "19141540", "url": "https://glygen.org/publication/PubMed/19141540" }, { "database": "PubMed", "id": "17635946", "url": "https://glygen.org/publication/PubMed/17635946" }, { "database": "PubMed", "id": "25847991", "url": "https://glygen.org/publication/PubMed/25847991" }, { "database": "PubMed", "id": "19248771", "url": "https://glygen.org/publication/PubMed/19248771" } ] }, { "annotation": "Increases activity of isoform Alpha.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150#function" }, { "database": "PubMed", "id": "11358809", "url": "https://glygen.org/publication/PubMed/11358809" } ] }, { "annotation": "Luminal breast cancer identity is determined by loss of glucocorticoid receptor activity.", "evidence": [ { "database": "RefSeq", "id": "NP_000167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167" }, { "database": "PubMed", "id": "37902007", "url": "https://glygen.org/publication/PubMed/37902007" } ] }, { "annotation": "More effective than isoform Alpha in transcriptional activation, but not repression activity.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150#function" }, { "database": "PubMed", "id": "11435610", "url": "https://glygen.org/publication/PubMed/11435610" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] }, { "annotation": "Receptor for glucocorticoids (GC) (PubMed:27120390). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors (PubMed:28139699). Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Involved in chromatin remodeling (PubMed:9590696). Plays a role in rapid mRNA degradation by binding to the 5' UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150#function" }, { "database": "PubMed", "id": "25775514", "url": "https://glygen.org/publication/PubMed/25775514" }, { "database": "PubMed", "id": "9590696", "url": "https://glygen.org/publication/PubMed/9590696" }, { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprot/P06537#function" }, { "database": "PubMed", "id": "27120390", "url": "https://glygen.org/publication/PubMed/27120390" }, { "database": "PubMed", "id": "28139699", "url": "https://glygen.org/publication/PubMed/28139699" } ] }, { "annotation": "Results suggest that cell-type specific glucocorticoid receptor isoforms generate specificity in glucocorticoid control of transcription in different tissues.", "evidence": [ { "database": "RefSeq", "id": "NP_000167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] }, { "annotation": "Results suggest that translational glucocorticoid receptor isoforms can elicit distinct glucocorticoid responses.", "evidence": [ { "database": "RefSeq", "id": "NP_000167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167" }, { "database": "PubMed", "id": "17682054", "url": "https://glygen.org/publication/PubMed/17682054" } ] }, { "annotation": "The glucocorticoid receptor gene (NR3C1) is linked to and associated with polycystic ovarian syndrome in Italian families. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167" }, { "database": "PubMed", "id": "38217051", "url": "https://glygen.org/publication/PubMed/38217051" } ] }, { "annotation": "This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_000167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167" } ] } ], "disease": [ { "disease_id": "MONDO:0014421", "recommended_name": { "id": "MONDO:0014421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014421", "name": "glucocorticoid resistance", "description": "" }, "synonyms": [ { "id": "MONDO:0014421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014421", "name": "GCCR", "description": "" }, { "id": "MONDO:0014421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014421", "name": "Gccr deficiency", "description": "" }, { "id": "MONDO:0014421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014421", "name": "Gcr deficiency", "description": "" }, { "id": "MONDO:0014421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014421", "name": "Grl deficiency", "description": "" }, { "id": "MONDO:0014421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014421", "name": "cortisol resistance from glucocorticoid receptor defect", "description": "" }, { "id": "MONDO:0014421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014421", "name": "glucocorticoid receptor deficiency", "description": "" }, { "id": "MONDO:0014421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014421", "name": "glucocorticoid resistance, generalised", "description": "" }, { "id": "MONDO:0014421", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014421", "name": "glucocorticoid resistance, generalized", "description": "" }, { "id": "MIM:615962", "resource": "MIM", "url": "https://www.omim.org/entry/615962", "name": "Glucocorticoid resistance, generalized", "description": "Glucocorticoid resistance, generalized" } ], "evidence": [ { "id": "615962", "database": "MIM", "url": "https://www.omim.org/entry/615962" } ] } ], "snv": [ { "evidence": [ { "id": "rs72481830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72481830" }, { "id": "rs72481830", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72481830" }, { "id": "rs72481830", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs72481830#frequency_tab" }, { "id": "rs72481830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs72481830" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 130, "end_pos": 130, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "5", "chr_pos": "143400451", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04150", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04150" }, { "id": "rs756187323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756187323" }, { "id": "rs756187323", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756187323" }, { "id": "rs756187323", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756187323" }, { "id": "rs756187323", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756187323#frequency_tab" }, { "id": "rs756187323", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756187323" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 140, "end_pos": 140, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "5", "chr_pos": "143400420", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K140", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs936255845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs936255845" }, { "id": "rs936255845", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs936255845" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 159, "end_pos": 159, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (THS->NHS).", "chr_id": "5", "chr_pos": "143400364", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1426382191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1426382191" }, { "id": "rs1426382191", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1426382191" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 15, "end_pos": 15, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "5", "chr_pos": "143400796", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1295760386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295760386" }, { "id": "rs1295760386", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1295760386#frequency_tab" }, { "id": "rs1295760386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295760386" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 224, "end_pos": 224, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCL->NCS).", "chr_id": "5", "chr_pos": "143400169", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201615830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201615830" }, { "id": "rs201615830", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201615830" }, { "id": "rs201615830", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201615830" }, { "id": "rs201615830", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201615830#frequency_tab" }, { "id": "rs201615830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201615830" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 242, "end_pos": 242, "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": "143400115", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs143711342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143711342" }, { "id": "rs143711342", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143711342" }, { "id": "rs143711342", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143711342#frequency_tab" }, { "id": "rs143711342", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143711342" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 30, "end_pos": 30, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YKT->NKT).", "chr_id": "5", "chr_pos": "143400752", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774530384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774530384" }, { "id": "rs774530384", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774530384" }, { "id": "rs774530384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774530384" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 325, "end_pos": 325, "sequence_org": "S", "sequence_mut": "N", "comment": 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Almost complete loss of sumoylation; when associated with R-293.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "12144530", "url": "https://glygen.org/publication/PubMed/12144530" } ] }, { "start_pos": 27, "end_pos": 27, "sequence_org": "M", "sequence_mut": "T", "comment": "Abolishes expression of B-type isoforms.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "11435610", "url": "https://glygen.org/publication/PubMed/11435610" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] }, { "start_pos": 293, "end_pos": 293, "sequence_org": "K", "sequence_mut": "R", "comment": "Strongly reduces sumoylation. Almost complete loss of sumoylation; when associated with R-277.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "12144530", "url": "https://glygen.org/publication/PubMed/12144530" } ] }, { "start_pos": 316, "end_pos": 316, "sequence_org": "M", "sequence_mut": "I", "comment": "Abolishes expression of D-type isoforms; when associated with I-331 and I-336.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] }, { "start_pos": 331, "end_pos": 331, "sequence_org": "M", "sequence_mut": "I", "comment": "Abolishes expression of D-type isoforms; when associated with I-316 and I-336.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] }, { "start_pos": 336, "end_pos": 336, "sequence_org": "M", "sequence_mut": "I", "comment": "Abolishes expression of D-type isoforms; when associated with I-316 and I-331.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] }, { "start_pos": 404, "end_pos": 404, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation. Does not affect translocation to the nucleus following ligand stimulation. Increases protein half-life and transcriptional repressor activity. Alters repertoire of regulated genes. Increases cell death.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "18838540", "url": "https://glygen.org/publication/PubMed/18838540" } ] }, { "start_pos": 404, "end_pos": 404, "sequence_org": "S", "sequence_mut": "D", "comment": "Does not affect translocation to the nucleus following ligand stimulation.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "18838540", "url": "https://glygen.org/publication/PubMed/18838540" } ] }, { "start_pos": 480, "end_pos": 480, "sequence_org": "K", "sequence_mut": "A", "comment": "Decrease in acetylation and in repression of its transcriptional activity by CLOCK-BMAL1 heterodimer. Complete loss in acetylation and in repression of its transcriptional activity by CLOCK-BMAL1 heterodimer; when associated with A-492; A-494 and A-495.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "19141540", "url": "https://glygen.org/publication/PubMed/19141540" } ] }, { "start_pos": 492, "end_pos": 492, "sequence_org": "K", "sequence_mut": "A", "comment": "Decrease in acetylation and in repression of its transcriptional activity by CLOCK-BMAL1 heterodimer. Complete loss in acetylation and in repression of its transcriptional activity by CLOCK-BMAL1 heterodimer; when associated with A-480; A-494 and A-495.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "19141540", "url": "https://glygen.org/publication/PubMed/19141540" } ] }, { "start_pos": 494, "end_pos": 494, "sequence_org": "K", "sequence_mut": "A", "comment": "Decrease in acetylation and in repression of its transcriptional activity by CLOCK-BMAL1 heterodimer; when associated with A-495. Complete loss in acetylation and in repression of its transcriptional activity by CLOCK-BMAL1 heterodimer; when associated with A-480; A-492 and A-495.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "19141540", "url": "https://glygen.org/publication/PubMed/19141540" } ] }, { "start_pos": 495, "end_pos": 495, "sequence_org": "K", "sequence_mut": "A", "comment": "Decrease in acetylation and in repression of its transcriptional activity by CLOCK-BMAL1 heterodimer; when associated with A-494. Complete loss in acetylation and in repression of its transcriptional activity by CLOCK-BMAL1 heterodimer; when associated with A-480; A-492 and A-494.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "19141540", "url": "https://glygen.org/publication/PubMed/19141540" } ] }, { "start_pos": 585, "end_pos": 585, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces activation mediated by ligand binding domain; when associated with A-590.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "12151000", "url": "https://glygen.org/publication/PubMed/12151000" } ] }, { "start_pos": 590, "end_pos": 590, "sequence_org": "D", "sequence_mut": "A", "comment": "Reduces activation mediated by ligand binding domain; when associated with A-585.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "12151000", "url": "https://glygen.org/publication/PubMed/12151000" } ] }, { "start_pos": 602, "end_pos": 602, "sequence_org": "F", "sequence_mut": "S", "comment": "Increases solubility. No effect on transactivation by dexamethasone.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "12151000", "url": "https://glygen.org/publication/PubMed/12151000" } ] }, { "start_pos": 625, "end_pos": 625, "sequence_org": "P", "sequence_mut": "A", "comment": "Decreases transactivation by dexamethasone by 95%.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "12151000", "url": "https://glygen.org/publication/PubMed/12151000" } ] }, { "start_pos": 628, "end_pos": 628, "sequence_org": "I", "sequence_mut": "A", "comment": "Decreases dimerization and transactivation by dexamethasone; when associated with S-602.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "12151000", "url": "https://glygen.org/publication/PubMed/12151000" } ] }, { "start_pos": 703, "end_pos": 703, "sequence_org": "K", "sequence_mut": "R", "comment": "Slightly reduces sumoylation. Inhibits the stimulatory effect of RWDD3 on its transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "12144530", "url": "https://glygen.org/publication/PubMed/12144530" }, { "database": "PubMed", "id": "23508108", "url": "https://glygen.org/publication/PubMed/23508108" } ] }, { "start_pos": 86, "end_pos": 86, "sequence_org": "M", "sequence_mut": "I", "comment": "Abolishes expression of C-type isoforms; when associated with I-90 and I-98.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] }, { "start_pos": 90, "end_pos": 90, "sequence_org": "M", "sequence_mut": "I", "comment": "Abolishes expression of C-type isoforms; when associated with I-86 and I-98.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] }, { "start_pos": 98, "end_pos": 98, "sequence_org": "M", "sequence_mut": "I", "comment": "Abolishes expression of C-type isoforms; when associated with I-86 and I-90.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "15866175", "url": "https://glygen.org/publication/PubMed/15866175" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113580", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113580" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113580", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113580" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113580", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113580" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "93.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113580", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113580" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113580", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113580" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "87.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113580", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113580" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "81.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000113580", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113580" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113580", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113580" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000113580", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113580" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "96.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113580", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113580" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113580", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113580" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, 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"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 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"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", 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}, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04150", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04150" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P04150", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04150" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P04150", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04150" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04150" } ], "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 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"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": "P04150", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04150" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04150", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04150" } ], "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": "P04150", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04150" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P04150", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04150" } ], "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": "P04150", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04150" } ], "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": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P04150", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04150" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48092", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR48092:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48092:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1M2Z", "url": "https://www.rcsb.org/structure/1M2Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1NHZ", "url": "https://www.rcsb.org/structure/1NHZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1P93", "url": "https://www.rcsb.org/structure/1P93", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3BQD", "url": "https://www.rcsb.org/structure/3BQD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CLD", "url": "https://www.rcsb.org/structure/3CLD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3E7C", "url": "https://www.rcsb.org/structure/3E7C", "database": "PDB", "categories": [ "3D 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"https://www.rcsb.org/structure/6YOS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KRJ", "url": "https://www.rcsb.org/structure/7KRJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KW7", "url": "https://www.rcsb.org/structure/7KW7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7PRV", "url": "https://www.rcsb.org/structure/7PRV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7PRW", "url": "https://www.rcsb.org/structure/7PRW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7PRX", "url": "https://www.rcsb.org/structure/7PRX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8A9G", "url": "https://www.rcsb.org/structure/8A9G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00104", "url": "http://pfam.xfam.org/family/PF00104", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00105", "url": "http://pfam.xfam.org/family/PF00105", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02155", "url": "http://pfam.xfam.org/family/PF02155", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P04150", "url": "https://pharos.nih.gov/targets/P04150", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P04150", "url": "http://purl.obolibrary.org/obo/PR_P04150", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3371497", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371497", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8849473", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849473", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8939902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939902", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9615017", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615017", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9768777", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9768777", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A494C0P1", "url": "https://www.uniprot.org/uniprot/A0A494C0P1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0P1-1", "url": "https://www.uniprot.org/uniprot/A0A494C0P1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RDA9", "url": "https://www.uniprot.org/uniprot/D6RDA9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RDA9-1", "url": "https://www.uniprot.org/uniprot/D6RDA9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-1", "url": "https://www.uniprot.org/uniprot/P04150-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-10", "url": "https://www.uniprot.org/uniprot/P04150-10", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-11", "url": "https://www.uniprot.org/uniprot/P04150-11", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-12", "url": "https://www.uniprot.org/uniprot/P04150-12", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-13", "url": "https://www.uniprot.org/uniprot/P04150-13", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-14", "url": "https://www.uniprot.org/uniprot/P04150-14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-15", "url": "https://www.uniprot.org/uniprot/P04150-15", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-16", "url": "https://www.uniprot.org/uniprot/P04150-16", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-2", "url": "https://www.uniprot.org/uniprot/P04150-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-3", "url": "https://www.uniprot.org/uniprot/P04150-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-5", "url": "https://www.uniprot.org/uniprot/P04150-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-6", "url": "https://www.uniprot.org/uniprot/P04150-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-7", "url": "https://www.uniprot.org/uniprot/P04150-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-8", "url": "https://www.uniprot.org/uniprot/P04150-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04150-9", "url": "https://www.uniprot.org/uniprot/P04150-9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3MSN4", "url": "https://www.uniprot.org/uniprot/Q3MSN4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3MSN4-1", "url": "https://www.uniprot.org/uniprot/Q3MSN4-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 777, "header": "sp|P04150-1|GCR_HUMAN Isoform 1 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "isoforms": [ { "isoform_ac": "A0A494C0P1-1", "url": "", "sequence": { "sequence": "MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 746, "header": "tr|A0A494C0P1-1|A0A494C0P1_HUMAN Computationally mapped isoform of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": { "chromosome": "5", "start_pos": 143400839, "end_pos": 143281892, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652686.1", "url": "https://www.ensembl.org/id/ENST00000652686.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498663.1", "url": "https://www.ensembl.org/id/ENSP00000498663.1" } ] } }, { "isoform_ac": "D6RDA9-1", "url": "", "sequence": { "sequence": "MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSAS", "length": 144, "header": "tr|D6RDA9-1|D6RDA9_HUMAN Computationally mapped isoform of Nuclear receptor subfamily 3 group C member 1 OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": { "chromosome": "5", "start_pos": 143400839, "end_pos": 143400408, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000502500.1", "url": "https://www.ensembl.org/id/ENST00000502500.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000425374.1", "url": "https://www.ensembl.org/id/ENSP00000425374.1" } ] } }, { "isoform_ac": "P04150-1", "url": "", "sequence": { "sequence": "MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 777, "header": "sp|P04150-1|GCR_HUMAN Isoform 1 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": { "chromosome": "5", "start_pos": 143400839, "end_pos": 143281892, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000343796.6", "url": "https://www.ensembl.org/id/ENST00000343796.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000343205.2", "url": "https://www.ensembl.org/id/ENSP00000343205.2" } ] } }, { "isoform_ac": "P04150-10", "url": "", "sequence": { "sequence": "MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 751, "header": "sp|P04150-10|GCR_HUMAN Isoform 10 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": { "chromosome": "5", "start_pos": 143400839, "end_pos": 143281892, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424646.6", "url": "https://www.ensembl.org/id/ENST00000424646.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000405282.2", "url": "https://www.ensembl.org/id/ENSP00000405282.2" } ] } }, { "isoform_ac": "P04150-11", "url": "", "sequence": { "sequence": "MGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 692, "header": "sp|P04150-11|GCR_HUMAN Isoform 11 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": {} }, { "isoform_ac": "P04150-12", "url": "", "sequence": { "sequence": "MGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 688, "header": "sp|P04150-12|GCR_HUMAN Isoform 12 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": {} }, { "isoform_ac": "P04150-13", "url": "", "sequence": { "sequence": "MGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 680, "header": "sp|P04150-13|GCR_HUMAN Isoform 13 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": {} }, { "isoform_ac": "P04150-14", "url": "", "sequence": { "sequence": "MSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 462, "header": "sp|P04150-14|GCR_HUMAN Isoform 14 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": {} }, { "isoform_ac": "P04150-15", "url": "", "sequence": { "sequence": "MYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 447, "header": "sp|P04150-15|GCR_HUMAN Isoform 15 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": {} }, { "isoform_ac": "P04150-16", "url": "", "sequence": { "sequence": "MNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 442, "header": "sp|P04150-16|GCR_HUMAN Isoform 16 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": {} }, { "isoform_ac": "P04150-2", "url": "", "sequence": { "sequence": "MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHENVMWLKPESTSHTLI", "length": 742, "header": "sp|P04150-2|GCR_HUMAN Isoform 2 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": { "chromosome": "5", "start_pos": 143400839, "end_pos": 143279367, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415690.6", "url": "https://www.ensembl.org/id/ENST00000415690.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000387672.2", "url": "https://www.ensembl.org/id/ENSP00000387672.2" } ] } }, { "isoform_ac": "P04150-3", "url": "", "sequence": { "sequence": "MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGRQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 778, "header": "sp|P04150-3|GCR_HUMAN Isoform 3 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": { "chromosome": "5", "start_pos": 143400839, "end_pos": 143281892, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000231509.7", "url": "https://www.ensembl.org/id/ENST00000231509.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000231509.3", "url": "https://www.ensembl.org/id/ENSP00000231509.3" } ] } }, { "isoform_ac": "P04150-5", "url": "", "sequence": { "sequence": "MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEAVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 593, "header": "sp|P04150-5|GCR_HUMAN Isoform 5 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": {} }, { "isoform_ac": "P04150-6", "url": "", "sequence": { "sequence": "MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGRQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHENVMWLKPESTSHTLI", "length": 743, "header": "sp|P04150-6|GCR_HUMAN Isoform 6 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": {} }, { "isoform_ac": "P04150-7", "url": "", "sequence": { "sequence": "MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEAVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHENVMWLKPESTSHTLI", "length": 558, "header": "sp|P04150-7|GCR_HUMAN Isoform 7 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": {} }, { "isoform_ac": "P04150-8", "url": "", "sequence": { "sequence": "MDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHEVVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK", "length": 751, "header": "sp|P04150-8|GCR_HUMAN Isoform 8 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": {} }, { "isoform_ac": "P04150-9", "url": "", "sequence": { "sequence": "MDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSASTAVSAAPTEKEFPKTHSDVSSEQQHLKGQTGTNGGNVKLYTTDQSTFDILQDLEFSSGSPGKETNESPWRSDLLIDENCLLSPLAGEDDSFLLEGNSNEDCKPLILPDTKPKIKDNGDLVLSSPSNVTLPQVKTEKEDFIELCTPGVIKQEKLGTVYCQASFPGANIIGNKMSAISVHGVSTSGGQMYHYDMNTASLSQQQDQKPIFNVIPPIPVGSENWNRCQGSGDDNLTSLGTLNFPGRTVFSNGYSSPSMRPDVSSPPSSSSTATTGPPPKLCLVCSDEASGCHYGVLTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRYRKCLQAGMNLEARKTKKKIKGIQQATTGVSQETSENPGNKTIVPATLPQLTPTLVSLLEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVKWAKAIPGFRNLHLDDQMTLLQYSWMFLMAFALGWRSYRQSSANLLCFAPDLIINEQRMTLPCMYDQCKHMLYVSSELHRLQVSYEEYLCMKTLLLLSSVPKDGLKSQELFDEIRMTYIKELGKAIVKREGNSSQNWQRFYQLTKLLDSMHENVMWLKPESTSHTLI", "length": 716, "header": "sp|P04150-9|GCR_HUMAN Isoform 9 of Glucocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": {} }, { "isoform_ac": "Q3MSN4-1", "url": "", "sequence": { "sequence": "MDSKESLTPGREENPSSVLAQERGDVMDFYKTLRGGATVKVSASSPSLAVASQSDSKQRRLLVDFPKGSVSNAQQPDLSKAVSLSMGLYMGETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRSTSVPENPKSSAST", "length": 145, "header": "tr|Q3MSN4-1|Q3MSN4_HUMAN Computationally mapped isoform of Nuclear receptor subfamily 3, group C, member 1 (Glucocorticoid receptor) OS=Homo sapiens OX=9606 GN=NR3C1 PE=1 SV=1 CANONICAL=P04150-1" }, "locus": { "chromosome": "5", "start_pos": 143400839, "end_pos": 143400405, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000502892.5", "url": "https://www.ensembl.org/id/ENST00000502892.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420856.1", "url": "https://www.ensembl.org/id/ENSP00000420856.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 42, "start_aa": "Ser", "end_pos": 42, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser42", "evidence": [ { "id": "P04150", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04150" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": 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"id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 130, "end_pos": 132, "annotation": "n_glycosylation_sequon" }, { "start_pos": 209, "end_pos": 211, "annotation": "n_glycosylation_sequon" }, { "start_pos": 270, "end_pos": 272, "annotation": "n_glycosylation_sequon" }, { "start_pos": 374, "end_pos": 376, "annotation": "n_glycosylation_sequon" }, { "start_pos": 517, "end_pos": 519, "annotation": "n_glycosylation_sequon" }, { "start_pos": 707, "end_pos": 709, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Acetylation by CLOCK reduces its binding to glucocorticoid response elements and its transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": 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Isoform Alpha-B appears to be more susceptible to proteolytic degradation than isoform Alpha (PubMed:11435610).", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "11435610", "url": "https://glygen.org/publication/PubMed/11435610" }, { "database": "PubMed", "id": "11555652", "url": "https://glygen.org/publication/PubMed/11555652" } ] }, { "annotation": "Phosphorylated in the absence of hormone; becomes hyperphosphorylated in the presence of glucocorticoid. The Ser-203, Ser-226 and Ser-404-phosphorylated forms are mainly cytoplasmic, and the Ser-211-phosphorylated form is nuclear (PubMed:12000743, PubMed:18838540). Phosphorylation at Ser-211 increases transcriptional activity (PubMed:12000743, PubMed:18483179). Phosphorylation at Ser-203, Ser-226 and Ser-404 decreases signaling capacity (PubMed:12000743, PubMed:18483179, PubMed:18838540). Phosphorylation at Ser-404 may protect from glucocorticoid-induced apoptosis (PubMed:18838540). Phosphorylation at Ser-203 and Ser-211 is not required in regulation of chromosome segregation (PubMed:25847991). May be dephosphorylated by PPP5C, attenuates NR3C1 action (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "25847991", "url": "https://glygen.org/publication/PubMed/25847991" }, { "database": "PubMed", "id": "18483179", "url": "https://glygen.org/publication/PubMed/18483179" }, { "database": "PubMed", "id": "18838540", "url": "https://glygen.org/publication/PubMed/18838540" }, { "database": "PubMed", "id": "12000743", "url": "https://glygen.org/publication/PubMed/12000743" } ] }, { "annotation": "Sumoylation at Lys-277 and Lys-293 negatively regulates its transcriptional activity (PubMed:12144530). Sumoylation at Lys-703 positively regulates its transcriptional activity in the presence of RWDD3 (By similarity). Sumoylation at Lys-277 and Lys-293 is dispensable whereas sumoylation at Lys-703 is critical for the stimulatory effect of RWDD3 on its transcriptional activity (By similarity). Heat shock increases sumoylation in a RWDD3-dependent manner (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P04150", "url": "https://www.uniprot.org/uniprot/P04150" }, { "database": "PubMed", "id": "12144530", "url": "https://glygen.org/publication/PubMed/12144530" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 42, 44, 45, 47, 52, 54, 56 ], "snv_sites": [ 15, 30, 42, 44, 56, 130, 140, 159, 224, 242, 325, 365, 384, 474, 549, 559, 742, 744 ], "glycation_sites": [], "phosphorylation_sites": [ 8, 32, 38, 45, 113, 134, 141, 203, 211, 226, 234, 266, 267, 404, 508, 524, 648, 650, 651 ], "sequon_annotation_sites": [ { "start_pos": 130, "end_pos": 132 }, { "start_pos": 209, "end_pos": 211 }, { "start_pos": 270, "end_pos": 272 }, { "start_pos": 374, "end_pos": 376 }, { "start_pos": 517, "end_pos": 519 }, { "start_pos": 707, "end_pos": 709 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 7 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 7 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 31 }, { "field": "total_sites", "count": 19 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 18 }, { "field": "total_sites", "count": 18 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 13 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 355 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }