{ "uniprot_canonical_ac": "P06734-1", "uniprot_ac": "P06734", "uniprot_id": "FCER2_HUMAN", "mass": { "chemical_mass": 36469.0, "monoisotopic_mass": 36469.0 }, "refseq": { "ac": "NP_001193948", "name": "low affinity immunoglobulin epsilon Fc receptor isoform b", "summary": "The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948" }, "gene_names": [ { "name": "FCER2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P06734", "id": "P06734" }, { "name": "BLAST-2; CD23; CD23A; CLEC4J; FCE2; FCErII; IGEBF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948", "id": "NP_001193948" }, { "name": "CD23A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P06734", "id": "P06734" }, { "name": "CLEC4J", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P06734", "id": "P06734" }, { "name": "FCE2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P06734", "id": "P06734" }, { "name": "FCER2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948", "id": "NP_001193948" }, { "name": "IGEBF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P06734", "id": "P06734" } ], "protein_names": [ { "name": "Low affinity immunoglobulin epsilon Fc receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P06734" }, { "name": "BLAST-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06734" }, { "name": "C-type lectin domain family 4 member J", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06734" }, { "name": "C-type lectin domain family 4, member J; Fc fragment of IgE receptor II; FcepsilonRII; low affinity immunoglobulin epsilon Fc receptor; CD23 antigen; fc-epsilon-RII; lymphocyte IgE receptor; immunoglobulin E-binding factor; immunoglobulin epsilon-chain; Fc fragment of IgE, low affinity II, receptor for (CD23)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948", "id": "NP_001193948" }, { "name": "Fc-epsilon-RII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06734" }, { "name": "Immunoglobulin E-binding factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06734" }, { "name": "Lymphocyte IgE receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06734" }, { "name": "low affinity immunoglobulin epsilon Fc receptor isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948", "id": "NP_001193948" } ], "function": [ { "annotation": "Bidirectional Transport of IgE by CD23 in the Inner Ear of Patients with Meniere's Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001193948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948" }, { "database": "PubMed", "id": "35046106", "url": "https://glygen.org/publication/PubMed/35046106" } ] }, { "annotation": "IgG memory B cells expressing IL4R and FCER2 are associated with atopic diseases.", "evidence": [ { "database": "RefSeq", "id": "NP_001193948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948" }, { "database": "PubMed", "id": "36445014", "url": "https://glygen.org/publication/PubMed/36445014" } ] }, { "annotation": "In humans, in contrast to what was previously found in mice, intestinal cells coexpress CD23a and CD23b, and the two splice forms show different localizations in polarized cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001193948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948" }, { "database": "PubMed", "id": "15843555", "url": "https://glygen.org/publication/PubMed/15843555" } ] }, { "annotation": "Low-affinity receptor for immunoglobulin E (IgE) and CR2/CD21. Has essential roles in the regulation of IgE production and in the differentiation of B cells. On B cells, initiates IgE-dependent antigen uptake and presentation to T cells (PubMed:2167225). On macrophages, upon IgE binding and antigen cross-linking induces intracellular killing of parasites through activation of L-Arginine-nitric oxide pathway (PubMed:7544003).", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734#function" }, { "database": "PubMed", "id": "7544003", "url": "https://glygen.org/publication/PubMed/7544003" }, { "database": "PubMed", "id": "2167225", "url": "https://glygen.org/publication/PubMed/2167225" } ] }, { "annotation": "Pax-5 is a key regulator of the B-cell-restricted expression of the CD23a isoform.", "evidence": [ { "database": "RefSeq", "id": "NP_001193948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948" }, { "database": "PubMed", "id": "12731041", "url": "https://glygen.org/publication/PubMed/12731041" } ] }, { "annotation": "Promoter is a target for NF-AT transcription factors in B-CLL cells", "evidence": [ { "database": "RefSeq", "id": "NP_001193948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948" }, { "database": "PubMed", "id": "12379312", "url": "https://glygen.org/publication/PubMed/12379312" } ] }, { "annotation": "Role of CD23 Activated ERK Signaling Pathway in the Pathogenesis of Eosinophilic Chronic Sinusitis with Nasal Polyps.", "evidence": [ { "database": "RefSeq", "id": "NP_001193948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948" }, { "database": "PubMed", "id": "37678868", "url": "https://glygen.org/publication/PubMed/37678868" } ] }, { "annotation": "The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001193948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948" } ] }, { "annotation": "Upstream regions of the CD23a and CD23b isoform coding sequences show distinct sensitivities to agents which induce CD23 protein expression at the plasma membrane", "evidence": [ { "database": "RefSeq", "id": "NP_001193948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948" }, { "database": "PubMed", "id": "12070780", "url": "https://glygen.org/publication/PubMed/12070780" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs767049788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767049788" }, { "id": "rs767049788", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767049788" }, { "id": "rs767049788", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767049788#frequency_tab" }, { "id": "rs767049788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767049788" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 246, "end_pos": 246, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NWA->NWS).", "chr_id": "19", "chr_pos": "7689423", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A246", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767049788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767049788" }, { "id": "rs767049788", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767049788" }, { "id": "rs767049788", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767049788#frequency_tab" }, { "id": "rs767049788", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767049788" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 246, "end_pos": 246, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NWA->NWT).", "chr_id": "19", "chr_pos": "7689423", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A246", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1334770269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334770269" }, { "id": "rs1334770269", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1334770269#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 252, "end_pos": 252, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "19", "chr_pos": "7689404", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06734", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P06734" }, { "id": "rs1448733301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448733301" }, { "id": "rs1448733301", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448733301" }, { "id": "rs1448733301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448733301" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 271, "end_pos": 271, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NDA->NDT).", "chr_id": "19", "chr_pos": "7689348", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A271", "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", "germline" ] }, { "evidence": [ { "id": "rs1413031843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413031843" }, { "id": "rs1413031843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413031843" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 314, "end_pos": 314, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "19", "chr_pos": "7689218", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1599430127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599430127" }, { "id": "rs1599430127", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599430127" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 314, "end_pos": 314, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "19", "chr_pos": "7689219", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747004976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747004976" }, { "id": "rs747004976", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747004976" }, { "id": "rs747004976", 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"score": "52.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104921" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104921" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "55.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104921" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "70.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104921" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104921" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "53.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104921" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "48.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104921" } ] }, { "tissue": { "name": 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"http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "60.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104921" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P06734", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06734" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": 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"resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P06734", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06734" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" 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"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 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"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": "P06734", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06734" } ], "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": 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"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": "P06734", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06734" } ], "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", 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"comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "start_pos": 296, "start_aa": "Ser", "end_pos": 296, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser296", "evidence": [ { "id": "P06734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06734#ptm_processing" }, { "id": "37453717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453717" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 314, "start_aa": "Thr", "end_pos": 314, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr314", "evidence": [ { "id": "P06734", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "P06734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06734#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 314, "end_pos": 314, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06734", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06734" }, { "database": "PubMed", "id": "29763855", "url": "https://glygen.org/publication/PubMed/29763855" } ], "site_lbl": "Thr314" }, { "start_pos": 31, "end_pos": 31, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P06734", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06734" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Thr31" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Constitutive activation of Stat3 signaling confers resistance to apoptosis in human U266 myeloma cells.", "journal": "Immunity", "date": "1999", "authors": "Catlett-Falcone R, Landowski TH, Oshiro MM, Turkson J, Levitzki A, Savino R, Ciliberto G, Moscinski L, Fernandez-Luna JL, Nunez G, Dalton WS, Jove R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10023775", "url": "https://glygen.org/publication/PubMed/10023775" } ] }, { "title": "Modulation of formyl peptide receptor expression by IL-10 in human monocytes and neutrophils.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Thivierge M, Parent JL, Stankova J, Rola-Pleszczynski M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6783783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783783" } ], "reference": [ { "type": "PubMed", "id": "10092818", "url": "https://glygen.org/publication/PubMed/10092818" } ] }, { "title": "Crystal structure of the interleukin-4/receptor alpha chain complex reveals a mosaic binding interface.", "journal": "Cell", "date": "1999", "authors": "Hage T, Sebald W, Reinemer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10219247", "url": "https://glygen.org/publication/PubMed/10219247" } ] }, { "title": "Regulation of the germline immunoglobulin Cgamma1 promoter by CD40 ligand and IL-4: dual role for tandem NF-kappaB binding sites.", "journal": "Molecular immunology", "date": "1999", "authors": "Warren WD, Roberts KL, Linehan LA, Berton MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": 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"Donnelly RP, Dickensheets H, Finbloom DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6783783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783783" } ], "reference": [ { "type": "PubMed", "id": "10433356", "url": "https://glygen.org/publication/PubMed/10433356" } ] }, { "title": "Functional synergism of STAT6 with either NF-kappa B or PU.1 to mediate IL-4-induced activation of IgE germline gene transcription.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Stutz AM, Woisetschlager M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10510379", "url": "https://glygen.org/publication/PubMed/10510379" } ] }, { "title": "Activation of eotaxin gene transcription by NF-kappa B and STAT6 in human airway epithelial cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Matsukura S, Stellato C, Plitt JR, Bickel C, Miura K, Georas SN, Casolaro V, Schleimer RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10586089", "url": "https://glygen.org/publication/PubMed/10586089" } ] }, { "title": "Signal transducer and activator of transcription 3 activates CCAAT enhancer-binding protein delta gene transcription in G0 growth-arrested mouse mammary epithelial cells and in involuting mouse mammary gland.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hutt JA, O'Rourke JP, DeWille J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10867011", "url": "https://glygen.org/publication/PubMed/10867011" } ] }, { "title": "Characterization of IL-4 and IL-13 signals dependent on the human IL-13 receptor alpha chain 1: redundancy of requirement of tyrosine residue for STAT3 activation.", "journal": "International immunology", "date": "2000", "authors": "Umeshita-Suyama R, Sugimoto R, Akaiwa M, Arima K, Yu B, Wada M, Kuwano M, Nakajima K, Hamasaki N, Izuhara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11058569", "url": "https://glygen.org/publication/PubMed/11058569" } ] }, { "title": "A stat-responsive element in the promoter of the episialin/MUC1 gene is involved in its overexpression in carcinoma cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Gaemers IC, Vos HL, Volders HH, van der Valk SW, Hilkens J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11084045", 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"url": "https://glygen.org/publication/PubMed/11104795" } ] }, { "title": "Suppression of signal transducer and activator of transcription 3-dependent B lymphocyte terminal differentiation by BCL-6.", "journal": "The Journal of experimental medicine", "date": "2000", "authors": "Reljic R, Wagner SD, Peakman LJ, Fearon DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11120780", "url": "https://glygen.org/publication/PubMed/11120780" } ] }, { "title": "Thrombin regulates vascular smooth muscle cell growth and heat shock proteins via the JAK-STAT pathway.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Madamanchi NR, Li S, Patterson C, Runge MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11278437", "url": "https://glygen.org/publication/PubMed/11278437" } ] }, { "title": "Co-operative effect of c-Src tyrosine kinase and Stat3 in activation of hepatocyte growth factor expression in mammary carcinoma cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Hung W, Elliott B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11278729", "url": "https://glygen.org/publication/PubMed/11278729" } ] }, { "title": "c-Jun and c-Fos cooperate with STAT3 in IL-6-induced transactivation of the IL-6 respone element (IRE).", "journal": "Cytokine", "date": "2001", "authors": "Schuringa JJ, Timmer H, Luttickhuizen D, Vellenga E, Kruijer W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11356008", "url": 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} ], "reference": [ { "type": "PubMed", "id": "11463377", "url": "https://glygen.org/publication/PubMed/11463377" } ] }, { "title": "Functional diversity among Notch1, Notch2, and Notch3 receptors.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Shimizu K, Chiba S, Saito T, Kumano K, Hamada Y, Hirai H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2197563", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2197563" } ], "reference": [ { "type": "PubMed", "id": "11866432", "url": "https://glygen.org/publication/PubMed/11866432" } ] }, { "title": "Constitutive Stat3 activity up-regulates VEGF expression and tumor angiogenesis.", "journal": "Oncogene", "date": "2002", "authors": "Niu G, Wright KL, Huang M, Song L, Haura E, Turkson J, Zhang S, Wang T, Sinibaldi D, Coppola D, Heller R, Ellis LM, Karras J, Bromberg J, Pardoll D, Jove R, Yu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": 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J.", "date": "1992", "authors": "Rose K, Turcatti G, Graber P, Pochon S, Regamey PO, Jansen KU, Magnenat E, Aubonney N, Bonnefoy JY", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "reference": [ { "type": "PubMed", "id": "1417742", "url": "https://glygen.org/publication/PubMed/1417742" } ] }, { "title": "IL-10 stimulates monocyte Fc gamma R surface expression and cytotoxic activity. Distinct regulation of antibody-dependent cellular cytotoxicity by IFN-gamma, IL-4, and IL-10.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1992", "authors": "te Velde AA, de Waal Malefijt R, Huijbens RJ, de Vries JE, Figdor CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6783783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783783" } ], "reference": [ { "type": "PubMed", "id": "1460289", "url": "https://glygen.org/publication/PubMed/1460289" } ] }, { "title": "IL-4 and IL-13 induce SOCS-1 gene expression in A549 cells by three functional STAT6-binding motifs located upstream of the transcription initiation site.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Hebenstreit D, Luft P, Schmiedlechner A, Regl G, Frischauf AM, Aberger F, Duschl A, Horejs-Hoeck J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], 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"url": "https://glygen.org/publication/PubMed/15843555" } ] }, { "title": "Gene expression alterations of human peripheral blood monocytes induced by medium-term treatment with the TH2-cytokines interleukin-4 and -13.", "journal": "Cytokine", "date": "2005", "authors": "Chaitidis P, O'Donnell V, Kuban RJ, Bermudez-Fajardo A, Ungethuem U, Kuhn H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "15869882", "url": "https://glygen.org/publication/PubMed/15869882" } ] }, { "title": "STAT3 nuclear import is independent of tyrosine phosphorylation and mediated by importin-alpha3.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Liu L, McBride KM, Reich NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6783783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783783" } ], "reference": [ { "type": "PubMed", "id": "15919823", "url": "https://glygen.org/publication/PubMed/15919823" } ] }, { "title": "Nuclear interaction of EGFR and STAT3 in the activation of the iNOS/NO pathway.", "journal": "Cancer cell", "date": "2005", "authors": "Lo HW, Hsu SC, Ali-Seyed M, Gunduz M, Xia W, Wei Y, Bartholomeusz G, Shih JY, Hung MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "15950906", "url": "https://glygen.org/publication/PubMed/15950906" } ] }, { "title": "Targeting Stat3 blocks both HIF-1 and VEGF expression induced by multiple oncogenic growth signaling pathways.", "journal": "Oncogene", "date": "2005", "authors": "Xu Q, Briggs J, Park S, Niu G, Kortylewski M, Zhang S, Gritsko T, Turkson J, Kay H, Semenza GL, Cheng JQ, Jove R, Yu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "IgE binding", "id": "GO:0019863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019863", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "low-affinity IgE receptor activity", "id": "GO:0019769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019769", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "positive regulation of humoral immune response mediated by circulating immunoglobulin", "id": "GO:0002925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002925", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "positive regulation of killing of cells of another organism", "id": "GO:0051712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051712", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "positive regulation of nitric-oxide synthase activity", "id": "GO:0051000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051000", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "positive regulation of nitric-oxide synthase biosynthetic process", "id": "GO:0051770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051770", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "Fc receptor-mediated immune complex endocytosis", "id": "GO:0160006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160006", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" }, { "name": "B cell antigen processing and presentation", "id": "GO:0002450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002450", "evidence": [ { "database": "UniProtKB", "id": "P06734", "url": "https://www.uniprot.org/uniprot/P06734" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "low affinity immunoglobulin epsilon Fc receptor O-glycosylated 1 (human)", "definition": "A low affinity immunoglobulin epsilon Fc receptor (human) that has been O-glycosylated at the residue equivalent to Thr-314 of the amino acid sequence represented by UniProtKB:P06734-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P06734-1, Thr-314, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053593", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053593" } ] } ], "site_annotation": [ { "start_pos": 63, "end_pos": 65, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "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": [ 63 ], "o_linked_sites": [ 296, 314 ], "snv_sites": [ 63, 65, 246, 252, 271, 314 ], "glycation_sites": [], "phosphorylation_sites": [ 31, 314 ], "sequon_annotation_sites": [ { "start_pos": 63, "end_pos": 65 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "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": 1 } ], "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_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 8 }, { "field": "total_sites", "count": 6 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 7 }, { "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": "publication", "table_stats": [ { "field": "total", "count": 160 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }