{ "uniprot_canonical_ac": "P08637-1", "uniprot_ac": "P08637", "uniprot_id": "FCG3A_HUMAN", "mass": { "chemical_mass": 29089.0, "monoisotopic_mass": 29089.0 }, "refseq": { "ac": "NP_000560", "name": "low affinity immunoglobulin gamma Fc region receptor III-A isoform c precursor", "summary": "This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other responses, including antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus infections. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene are associated with immunodeficiency 20, and have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560" }, "gene_names": [ { "name": "FCGR3A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08637", "id": "P08637" }, { "name": "CD16; CD16-II; CD16A; FCG3; FCGR3; FCGRIII; FcGRIIIA; FCR-10; FCRIII; FCRIIIA; IGFR3; IMD20", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560", "id": "NP_000560" }, { "name": "CD16A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08637", "id": "P08637" }, { "name": "FCG3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08637", "id": "P08637" }, { "name": "FCGR3A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560", "id": "NP_000560" }, { "name": "FCGR3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08637", "id": "P08637" }, { "name": "IGFR3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08637", "id": "P08637" } ], "protein_names": [ { "name": "Low affinity immunoglobulin gamma Fc region receptor III-A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08637" }, { "name": "CD16-II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08637" }, { "name": "CD16a antigen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08637" }, { "name": "Fc fragment of IgG, low affinity III, receptor for (CD16); low affinity immunoglobulin gamma Fc region receptor III-A; Fc fragment of IgG, low affinity IIIa, receptor (CD16a); immunoglobulin G Fc receptor III; Fc-gamma receptor III-2 (CD 16); Fc-gamma RIII-alpha; neutrophil-specific antigen NA; low affinity immunoglobulin gamma Fc region receptor III-B; FcgammaRIIIA; IgG Fc receptor III-A; low affinity immunoglobulin gamma receptor III-a Fc fragment; Fc gamma receptor III-A; Fc fragment of IgG receptor IIIa; Fc-gamma receptor IIIb (CD16); CD16a antigen; igG Fc receptor III-2; low affinity immunoglobulin gamma Fc region receptor III-A/III-B recombinant", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560", "id": "NP_000560" }, { "name": "Fc-gamma RIII-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08637" }, { "name": "Fc-gamma RIIIa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08637" }, { "name": "Fc-gamma RIII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08637" }, { "name": "FcR-10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08637" }, { "name": "FcRIIIa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08637" }, { "name": "FcRIII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08637" }, { "name": "FcgammaRIIIA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08637" }, { "name": "IgG Fc receptor III-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08637" }, { "name": "IgG Fc receptor III-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08637" }, { "name": "low affinity immunoglobulin gamma Fc region receptor III-A isoform c precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560", "id": "NP_000560" } ], "function": [ { "annotation": "(Microbial infection) Involved in Dengue virus pathogenesis via antibody-dependent enhancement (ADE) mechanism. Secondary infection with Dengue virus triggers elevated levels of afucosylated non-neutralizing IgG1s with reactivity to viral envelope/E protein. Viral antigen-IgG1 complexes bind with high affinity to FCGR3A, facilitating virus entry in myeloid cells and subsequent viral replication.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637#function" }, { "database": "PubMed", "id": "28126818", "url": "https://glygen.org/publication/PubMed/28126818" } ] }, { "annotation": "Analysis of FCGR3A-p.176Val variants in women with recurrent pregnancy loss and the association with CD16a expression and anti-HLA antibody status. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560" }, { "database": "PubMed", "id": "36997584", "url": "https://glygen.org/publication/PubMed/36997584" } ] }, { "annotation": "Association between functional FCGR3A F158V and FCGR2A R131H polymorphisms and responsiveness to rituximab in patients with autoimmune diseases: a meta-analysis. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560" }, { "database": "PubMed", "id": "37149714", "url": "https://glygen.org/publication/PubMed/37149714" } ] }, { "annotation": "Association between the functional FCGR3A F158V and FCGR2A R131H polymorphisms and responsiveness to biologics in rheumatoid arthritis patients: A meta-analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_000560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560" }, { "database": "PubMed", "id": "37114884", "url": "https://glygen.org/publication/PubMed/37114884" } ] }, { "annotation": "FcgammaRIIIA activation-mediated up-regulation of glycolysis alters MDSCs modulation in CD4[+] T cell subsets of Sjogren syndrome. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560" }, { "database": "PubMed", "id": "36746935", "url": "https://glygen.org/publication/PubMed/36746935" } ] }, { "annotation": "Multiplex interrogation of the NK cell signalome reveals global downregulation of CD16 signaling during lentivirus infection through an IL-18/ADAM17-dependent mechanism. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560" }, { "database": "PubMed", "id": "37669308", "url": "https://glygen.org/publication/PubMed/37669308" } ] }, { "annotation": "Receptor for the invariable Fc fragment of immunoglobulin gamma (IgG). Optimally activated upon binding of clustered antigen-IgG complexes displayed on cell surfaces, triggers lysis of antibody-coated cells, a process known as antibody-dependent cellular cytotoxicity (ADCC). Does not bind free monomeric IgG, thus avoiding inappropriate effector cell activation in the absence of antigenic trigger (PubMed:24412922, PubMed:25786175, PubMed:21768335, PubMed:22023369, PubMed:8609432, PubMed:9242542, PubMed:25816339, PubMed:11711607, PubMed:28652325). Mediates IgG effector functions on natural killer (NK) cells. Binds antigen-IgG complexes generated upon infection and triggers NK cell-dependent cytokine production and degranulation to limit viral load and propagation. Involved in the generation of memory-like adaptive NK cells capable to produce high amounts of IFNG and to efficiently eliminate virus-infected cells via ADCC (PubMed:25786175, PubMed:24412922). Regulates NK cell survival and proliferation, in particular by preventing NK cell progenitor apoptosis (PubMed:9916693, PubMed:29967280). Fc-binding subunit that associates with CD247 and/or FCER1G adapters to form functional signaling complexes. Following the engagement of antigen-IgG complexes, triggers phosphorylation of immunoreceptor tyrosine-based activation motif (ITAM)-containing adapters with subsequent activation of phosphatidylinositol 3-kinase signaling and sustained elevation of intracellular calcium that ultimately drive NK cell activation. The ITAM-dependent signaling coupled to receptor phosphorylation by PKC mediates robust intracellular calcium flux that leads to production of pro-inflammatory cytokines, whereas in the absence of receptor phosphorylation it mainly activates phosphatidylinositol 3-kinase signaling leading to cell degranulation (PubMed:2532305, PubMed:1825220, PubMed:23024279). Costimulates NK cells and trigger lysis of target cells independently of IgG binding (PubMed:23006327, PubMed:10318937). Mediates the antitumor activities of therapeutic antibodies. Upon ligation on monocytes triggers TNFA-dependent ADCC of IgG-coated tumor cells (PubMed:27670158). Mediates enhanced ADCC in response to afucosylated IgGs (PubMed:34485821).", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637#function" }, { "database": "PubMed", "id": "21768335", "url": "https://glygen.org/publication/PubMed/21768335" }, { "database": "PubMed", "id": "22023369", "url": "https://glygen.org/publication/PubMed/22023369" }, { "database": "PubMed", "id": "8609432", "url": "https://glygen.org/publication/PubMed/8609432" }, { "database": "PubMed", "id": "9242542", "url": "https://glygen.org/publication/PubMed/9242542" }, { "database": "PubMed", "id": "11711607", "url": "https://glygen.org/publication/PubMed/11711607" }, { "database": "PubMed", "id": "23024279", "url": "https://glygen.org/publication/PubMed/23024279" }, { "database": "PubMed", "id": "1825220", "url": "https://glygen.org/publication/PubMed/1825220" }, { "database": "PubMed", "id": "23006327", "url": "https://glygen.org/publication/PubMed/23006327" }, { "database": "PubMed", "id": "2532305", "url": "https://glygen.org/publication/PubMed/2532305" }, { "database": "PubMed", "id": "29967280", "url": "https://glygen.org/publication/PubMed/29967280" }, { "database": "PubMed", "id": "25816339", "url": "https://glygen.org/publication/PubMed/25816339" }, { "database": "PubMed", "id": "24412922", "url": "https://glygen.org/publication/PubMed/24412922" }, { "database": "PubMed", "id": "27670158", "url": "https://glygen.org/publication/PubMed/27670158" }, { "database": "PubMed", "id": "10318937", "url": "https://glygen.org/publication/PubMed/10318937" }, { "database": "PubMed", "id": "25786175", "url": "https://glygen.org/publication/PubMed/25786175" }, { "database": "PubMed", "id": "34485821", "url": "https://glygen.org/publication/PubMed/34485821" }, { "database": "PubMed", "id": "9916693", "url": "https://glygen.org/publication/PubMed/9916693" } ] }, { "annotation": "Role of ADAM17 as a regulatory checkpoint of CD16A in NK cells and as a potential target for cancer immunotherapy. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560" }, { "database": "PubMed", "id": "30786043", "url": "https://glygen.org/publication/PubMed/30786043" } ] }, { "annotation": "This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other responses, including antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus infections. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene are associated with immunodeficiency 20, and have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_000560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000560" } ] } ], "disease": [ { "disease_id": "DOID:0111941", "recommended_name": { "id": "DOID:0111941", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111941", "name": "immunodeficiency 20", "description": "A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3." }, "synonyms": [ { "id": "DOID:0111941", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111941", "name": "IMD20", "description": "" }, { "id": "DOID:0111941", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111941", "name": "CD16 deficiency", "description": "" }, { "id": "DOID:0111941", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111941", "name": "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity", "description": "" }, { "id": "DOID:0111941", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111941", "name": "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity", "description": "" }, { "id": "MONDO:0014313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014313", "name": "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity", "description": "" }, { "id": "MONDO:0014313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014313", "name": "CD16 deficiency", "description": "" }, { "id": "MONDO:0014313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014313", "name": "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity", "description": "" }, { "id": "MONDO:0014313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014313", "name": "immunodeficiency type 20", "description": "" }, { "id": "MONDO:0014313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014313", "name": "IMD20", "description": "" }, { "id": "MONDO:0014313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014313", "name": "immunodeficiency 20", "description": "" }, { "id": "MIM:615707", "resource": "MIM", "url": "https://www.omim.org/entry/615707", "name": "Immunodeficiency 20", "description": "Immunodeficiency 20" } ], "evidence": [ { "id": "615707", "database": "MIM", "url": "https://www.omim.org/entry/615707" } ] } ], "snv": [ { "evidence": [ { "id": "rs767421682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767421682" }, { "id": "rs767421682", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767421682" }, { "id": "rs767421682", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767421682" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 180, "end_pos": 180, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->KVS).", "chr_id": "1", "chr_pos": "161544738", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761153385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761153385" }, { "id": "rs761153385", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761153385" }, { "id": "rs761153385", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761153385#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 233, "end_pos": 233, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IRS->NRS).", "chr_id": "1", "chr_pos": "161543079", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I233", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147185130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147185130" }, { "id": "rs147185130", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147185130" }, { "id": "rs147185130", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147185130" }, { "id": "rs147185130", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147185130#frequency_tab" }, { "id": "rs147185130", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147185130" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 40, "end_pos": 40, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KDS->NDS).", "chr_id": "1", "chr_pos": "161548620", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "K40", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs561419661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561419661" }, { "id": "rs561419661", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561419661" }, { "id": "rs561419661", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561419661" }, { "id": "rs561419661", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561419661" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 42, "end_pos": 42, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVT->NVT).", "chr_id": "1", "chr_pos": "161548615", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751329449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751329449" }, { "id": "rs751329449", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751329449" }, { "id": "rs751329449", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751329449" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 55, "end_pos": 55, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "1", "chr_pos": "161548577", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D55", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758304652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758304652" }, { "id": "rs758304652", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758304652" }, { "id": "rs758304652", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758304652" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 56, "end_pos": 56, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST).", "chr_id": "1", "chr_pos": "161548573", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N56", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08637", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08637" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 56, "end_pos": 56, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->TST).", "chr_id": "1", "chr_pos": "161548573", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N56", "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": 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Decreases cell surface expression; when associated with A-211 and A-212.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 211, "end_pos": 211, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreases the association with either CD247 or FCER1G. Decreases cell surface expression; when associated with A-210 and A-212.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 212, "end_pos": 212, "sequence_org": "C", "sequence_mut": "A", "comment": "Has no effect on complex formation with CD247 or FCER1G. Decreases cell surface expression; when associated with A-210 and A-211.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 219, "end_pos": 219, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreases the association with either CD247 or FCER1G. Decreases cell surface expression.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 222, "end_pos": 222, "sequence_org": "D", "sequence_mut": "A", "comment": "Decreases the association with either CD247 or FCER1G. Strongly increases cell surface expression.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 222, "end_pos": 222, "sequence_org": "D", "sequence_mut": "E", "comment": "Strongly decreases complex formation with CD247 or FCER1G.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 222, "end_pos": 222, "sequence_org": "D", "sequence_mut": "K", "comment": "Strongly decreases complex formation with CD247 or FCER1G.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 222, "end_pos": 222, "sequence_org": "D", "sequence_mut": "N", "comment": "Has little effect on complex formation with CD247 or FCER1G.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 223, "end_pos": 223, "sequence_org": "T", "sequence_mut": "A", "comment": "Decreases the association with either CD247 or FCER1G. Decreases cell surface expression.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 226, "end_pos": 226, "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreases the association with either CD247 or FCER1G. Decreases cell surface expression; when associated with A-227 and A-228.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 227, "end_pos": 227, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreases the association with either CD247 or FCER1G. Decreases cell surface expression; when associated with A-226 and A-228.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 228, "end_pos": 228, "sequence_org": "S", "sequence_mut": "A", "comment": "Has little effect on complex formation with CD247 or FCER1G. Decreases cell surface expression; when associated with A-226 and A-227.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "28652325", "url": "https://glygen.org/publication/PubMed/28652325" } ] }, { "start_pos": 235, "end_pos": 237, "sequence_org": "SST", "sequence_mut": "AAA", "comment": "Loss of PKC-dependent phosphorylation. Abolishes pro-inflammatory cytokine production while enhancing cell degranulation.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "23024279", "url": "https://glygen.org/publication/PubMed/23024279" } ] }, { "start_pos": 249, "end_pos": 254, "sequence_org": "KDPQDK", "sequence_mut": "", "comment": "Impairs the interaction with S100A4.", "evidence": [ { "database": "UniProtKB", "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637" }, { "database": "PubMed", "id": "23024279", "url": "https://glygen.org/publication/PubMed/23024279" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203747" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203747" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203747" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203747" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203747" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "74.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203747" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203747" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "76.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203747" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "82.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000203747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203747" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08637" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", 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}, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08637" } ], "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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08637" } ], "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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P08637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08637" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P08637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08637" } ], "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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"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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{ "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 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08637" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08637" } ], "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": [ 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"url": "https://www.uniprot.org/uniprot/A0A8V8TNB3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNB3-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TNB3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNB8", "url": "https://www.uniprot.org/uniprot/A0A8V8TNB8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNB8-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TNB8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPL1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPL1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPL1-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPL1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQ03", "url": "https://www.uniprot.org/uniprot/A0A8V8TQ03", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQ03-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQ03-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JC71", "url": "https://www.uniprot.org/uniprot/C9JC71", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JC71-1", "url": "https://www.uniprot.org/uniprot/C9JC71-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y755", "url": "https://www.uniprot.org/uniprot/H0Y755", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y755-1", "url": "https://www.uniprot.org/uniprot/H0Y755-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08637", "url": "https://www.uniprot.org/uniprot/P08637", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08637-1", "url": "https://www.uniprot.org/uniprot/P08637-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWQLLLPTALLLLVSAGMRTEDLPKAVVFLEPQWYRVLEKDSVTLKCQGAYSPEDNSTQWFHNESLISSQASSYFIDAATVDDSGEYRCQTNLSTLSDPVQLEVHIGWLLLQAPRWVFKEEDPIHLRCHSWKNTALHKVTYLQNGKGRKYFHHNSDFYIPKATLKDSGSYFCRGLFGSKNVSSETVNITITQGLAVSTISSFFPPGYQVSFCLVMVLLFAVDTGLYFSVKTNIRSSTRDWKDHKFKWRKDPQDK", "length": 254, "header": "sp|P08637-1|FCG3A_HUMAN Isoform 1 of Low affinity immunoglobulin gamma Fc region receptor III-A OS=Homo sapiens OX=9606 GN=FCGR3A PE=1 SV=2 CANONICAL=P08637-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TNB3-1", "url": "", "sequence": { "sequence": "MWQLLLPTALLLLVSAGMRTEDLPKAVVFLEPQWYRVLEKDSVTLKCQGAYSPEDNSTQWFHNESLISSQASSYFIDAATVDDSGEYRCQTNLSTLSDPVQLEVHIVPLN", "length": 110, "header": "tr|A0A8V8TNB3-1|A0A8V8TNB3_HUMAN Computationally mapped isoform of Fc gamma receptor IIIa OS=Homo sapiens OX=9606 GN=FCGR3A PE=1 SV=1 CANONICAL=P08637-1" }, "locus": { "chromosome": "1", "start_pos": 161549736, "end_pos": 161547253, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699493.1", "url": "https://www.ensembl.org/id/ENST00000699493.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514404.1", "url": "https://www.ensembl.org/id/ENSP00000514404.1" } ] } }, { "isoform_ac": "A0A8V8TNB8-1", "url": "", "sequence": { "sequence": "MWQLLLPTALLLLVSAGMRTEDLPKAVVFLEPQWYRVLEKDSVTLKCQGAYSPEDNSTQWFHNESLISSQASSYFIDAATVDDSGEYRCQTNLSTLSDPVQLEVHIGWLLLQAPRWVFKEEDPIHLRCHSWKNTALHKVTYLQNGKGRKYFHHNSDFYIPKATLKDSGSYFCRGLFGSKNVSSETVNITITQGETCATLECPGTPVCGTCNHTGKLSWEEIPDSYTHFFICGSLLVITRRSPKVPDCRVGLQLCFSPFFWGS", "length": 262, "header": "tr|A0A8V8TNB8-1|FCG3A_HUMAN Computationally mapped isoform of Low affinity immunoglobulin gamma Fc region receptor III-A OS=Homo sapiens OX=9606 GN=FCGR3A PE=1 SV=1 CANONICAL=P08637-1" }, "locus": { "chromosome": "1", "start_pos": 161549736, "end_pos": 161544492, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699398.1", "url": "https://www.ensembl.org/id/ENST00000699398.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514359.1", "url": "https://www.ensembl.org/id/ENSP00000514359.1" } ] } }, { "isoform_ac": "A0A8V8TPL1-1", "url": "", "sequence": { "sequence": "MRTEDLPKAVVFLEPQWYRVLEKDSVTLKCQGAYSPEDNSTQWFHNESLISSQASSYFIDAATVDDSGEYRCQTNLSTLSDPVQLEVHIGWLLLQAPRWVFKEEDPIHLRCHSWKNTALHKVTYLQNGKGRKYFHHNSDFYIPKATLKDSGSYFCRGLFGSKNVSSETVNITITQGLAVSTISSFFPPGYQVSFCLVMVLLFAVDTGLYFSVKTNIRSSTRDWKDHKFKWRKDPQDK", "length": 237, "header": "tr|A0A8V8TPL1-1|FCG3A_HUMAN Computationally mapped isoform of Low affinity immunoglobulin gamma Fc region receptor III-A OS=Homo sapiens OX=9606 GN=FCGR3A PE=1 SV=1 CANONICAL=P08637-1" }, "locus": { "chromosome": "1", "start_pos": 161549020, "end_pos": 161543015, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699399.1", "url": "https://www.ensembl.org/id/ENST00000699399.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514360.1", "url": "https://www.ensembl.org/id/ENSP00000514360.1" } ] } }, { "isoform_ac": "A0A8V8TQ03-1", "url": "", "sequence": { "sequence": "MWQLLLPTALLLLVSAGMRTEDLPKAVVFLEPQWYRVLEKDSVTLKCQGAYSPEDNSTQWFHNESLISSQASSYFIDAATVDDSGEYRCQTNLSTLSDPVQLEVHIGWLLLQAPRWVFKEEDPIHLRCHSWKNTALHKVTYLQNGKGRKYFHHNSDFYIPKATLKDSGSYFCRGLFGSKNVSSETVNITITQGETCATLECPGTPVCGTCNHTGKLSWEEIPDSYTHFFICGSLLVITRRSPKVPDCRVWQCQPSHHSFHLGTKSLSAW", "length": 269, "header": "tr|A0A8V8TQ03-1|FCG3A_HUMAN Computationally mapped isoform of Low affinity immunoglobulin gamma Fc region receptor III-A OS=Homo sapiens OX=9606 GN=FCGR3A PE=1 SV=1 CANONICAL=P08637-1" }, "locus": { "chromosome": "1", "start_pos": 161549736, "end_pos": 161543137, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699401.1", "url": "https://www.ensembl.org/id/ENST00000699401.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514362.1", "url": "https://www.ensembl.org/id/ENSP00000514362.1" } ] } }, { "isoform_ac": "C9JC71-1", "url": "", "sequence": { "sequence": "MWQLLLPTALLLLVSAGMRTDLPKAVVFLEPQWYRVLEKDSVTLKCQGAYSPEDNSTQWFHNESLISSQASSYFIDAATVDDSGEYRCQTNLSTLSDPVQLEVHIGWLLLQAPRWVFKEEDPIHLRCHSWKNTAL", "length": 135, "header": "tr|C9JC71-1|FCG3A_HUMAN Computationally mapped isoform of Low affinity immunoglobulin gamma Fc region receptor III-A OS=Homo sapiens OX=9606 GN=FCGR3A PE=1 SV=2 CANONICAL=P08637-1" }, "locus": { "chromosome": "1", "start_pos": 161549736, "end_pos": 161544870, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442336.2", "url": "https://www.ensembl.org/id/ENST00000442336.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000396567.2", "url": "https://www.ensembl.org/id/ENSP00000396567.2" } ] } }, { "isoform_ac": "H0Y755-1", "url": "", "sequence": { "sequence": "MWQLLLPTALLLLVSAGMRTDLPKAVVFLEPQWYRVLEKDSVTLKCQGAYSPEDNSTQWFHNESLISSQASSYFIDAATVDDSGEYRCQTNLSTLSDPVQLEVHIGWLLLQAPRWVFKEEDPIHLRCHSWKNTALHKVTYLQNGKGRKYFHHNSDFYIPKATLKDSGSYFCRGLFGSKNVSSETVNITITQGLAVSTISSFFPPGYQVSFCLVMVLLFAVDTGLYFSVKTNIRSSTRDWKDHKFKWRKDPQDK", "length": 253, "header": "tr|H0Y755-1|H0Y755_HUMAN Computationally mapped isoform of Fc gamma receptor IIIa OS=Homo sapiens OX=9606 GN=FCGR3A PE=1 SV=3 CANONICAL=P08637-1" }, "locus": { "chromosome": "1", "start_pos": 161549736, "end_pos": 161543015, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426740.8", "url": "https://www.ensembl.org/id/ENST00000426740.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000410180.3", "url": "https://www.ensembl.org/id/ENSP00000410180.3" } ] } }, { "isoform_ac": "P08637-1", "url": "", "sequence": { "sequence": "MWQLLLPTALLLLVSAGMRTEDLPKAVVFLEPQWYRVLEKDSVTLKCQGAYSPEDNSTQWFHNESLISSQASSYFIDAATVDDSGEYRCQTNLSTLSDPVQLEVHIGWLLLQAPRWVFKEEDPIHLRCHSWKNTALHKVTYLQNGKGRKYFHHNSDFYIPKATLKDSGSYFCRGLFGSKNVSSETVNITITQGLAVSTISSFFPPGYQVSFCLVMVLLFAVDTGLYFSVKTNIRSSTRDWKDHKFKWRKDPQDK", "length": 254, "header": "sp|P08637-1|FCG3A_HUMAN Isoform 1 of Low affinity immunoglobulin gamma Fc region receptor III-A OS=Homo sapiens OX=9606 GN=FCGR3A PE=1 SV=2 CANONICAL=P08637-1" }, "locus": { "chromosome": "1", "start_pos": 161549736, "end_pos": 161543015, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699395.1", "url": "https://www.ensembl.org/id/ENST00000699395.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514356.1", "url": "https://www.ensembl.org/id/ENSP00000514356.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G02030ZB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G08146BT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G10773YW", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G11629QQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G11870QZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G20218ZS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G21001NA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, 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"start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G29880MM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "3000", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/3000" }, { "id": "31467031", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31467031" } ] }, { "glytoucan_ac": "G32246SI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 180, 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