{ "uniprot_canonical_ac": "O75509-1", "uniprot_ac": "O75509", "uniprot_id": "TNR21_HUMAN", "mass": { "chemical_mass": 71845.0, "monoisotopic_mass": 71845.0 }, "refseq": { "ac": "NP_055267", "name": "tumor necrosis factor receptor superfamily member 21 precursor", "summary": "This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267" }, "gene_names": [ { "name": "TNFRSF21", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75509", "id": "O75509" }, { "name": "BM-018; CD358; DR6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267", "id": "NP_055267" }, { "name": "DR6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75509", "id": "O75509" }, { "name": "PRO868", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75509", "id": "O75509" }, { "name": "TNFRSF21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267", "id": "NP_055267" } ], "protein_names": [ { "name": "Tumor necrosis factor receptor superfamily member 21", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75509" }, { "name": "Death receptor 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75509" }, { "name": "death receptor 6; TNFR-related death receptor 6; tumor necrosis factor receptor superfamily member 21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267", "id": "NP_055267" }, { "name": "tumor necrosis factor receptor superfamily member 21 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267", "id": "NP_055267" } ], "function": [ { "annotation": "CircTNFRSF21, a newly identified circular RNA promotes endometrial carcinoma pathogenesis through regulating miR-1227-MAPK13/ATF2 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_055267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267" }, { "database": "PubMed", "id": "32299063", "url": "https://glygen.org/publication/PubMed/32299063" } ] }, { "annotation": "DR6 knockout mice are viable and fertile, and show hyperproliferation of T cells when stimulated.", "evidence": [ { "database": "RefSeq", "id": "NP_055267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267" }, { "database": "PubMed", "id": "11714751", "url": "https://glygen.org/publication/PubMed/11714751" } ] }, { "annotation": "DR6 mediates T cell proliferation and differentiation in mice.", "evidence": [ { "database": "RefSeq", "id": "NP_055267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267" }, { "database": "PubMed", "id": "11485735", "url": "https://glygen.org/publication/PubMed/11485735" } ] }, { "annotation": "Death Receptor 6 as a Prognostic Marker in Low-grade Glioma.", "evidence": [ { "database": "RefSeq", "id": "NP_055267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267" }, { "database": "PubMed", "id": "35220214", "url": "https://glygen.org/publication/PubMed/35220214" } ] }, { "annotation": "Long Noncoding RNAs Testis Development Related Gene 1 Aggravates Transforming Growth Factor-beta1-Induced Fibrogenesis and Inflammatory Response of Cardiac Fibroblasts Via miR-605-3p/Tumor Necrosis Factor Receptor Superfamily-21 Axis.", "evidence": [ { "database": "RefSeq", "id": "NP_055267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267" }, { "database": "PubMed", "id": "34775426", "url": "https://glygen.org/publication/PubMed/34775426" } ] }, { "annotation": "Observational study of genotype prevalence. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_055267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267" }, { "database": "PubMed", "id": "15301860", "url": "https://glygen.org/publication/PubMed/15301860" } ] }, { "annotation": "Proapoptotic Mitochondrial Carrier Homolog Protein PSAP Mediates Death Receptor 6 Induced Apoptosis.", "evidence": [ { "database": "RefSeq", "id": "NP_055267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267" }, { "database": "PubMed", "id": "32144986", "url": "https://glygen.org/publication/PubMed/32144986" } ] }, { "annotation": "Promotes apoptosis, possibly via a pathway that involves the activation of NF-kappa-B. Can also promote apoptosis mediated by BAX and by the release of cytochrome c from the mitochondria into the cytoplasm. Plays a role in neuronal apoptosis, including apoptosis in response to amyloid peptides derived from APP, and is required for both normal cell body death and axonal pruning. Trophic-factor deprivation triggers the cleavage of surface APP by beta-secretase to release sAPP-beta which is further cleaved to release an N-terminal fragment of APP (N-APP). N-APP binds TNFRSF21; this triggers caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6). Negatively regulates oligodendrocyte survival, maturation and myelination. Plays a role in signaling cascades triggered by stimulation of T-cell receptors, in the adaptive immune response and in the regulation of T-cell differentiation and proliferation. Negatively regulates T-cell responses and the release of cytokines such as IL4, IL5, IL10, IL13 and IFNG by Th2 cells. Negatively regulates the production of IgG, IgM and IgM in response to antigens. May inhibit the activation of JNK in response to T-cell stimulation. Also acts as a regulator of pyroptosis: recruits CASP8 in response to reactive oxygen species (ROS) and subsequent oxidation, leading to activation of GSDMC (PubMed:34012073).", "evidence": [ { "database": "UniProtKB", "id": "O75509", "url": "https://www.uniprot.org/uniprot/O75509#function" }, { "database": "PubMed", "id": "21725297", "url": "https://glygen.org/publication/PubMed/21725297" }, { "database": "PubMed", "id": "9714541", "url": "https://glygen.org/publication/PubMed/9714541" }, { "database": "PubMed", "id": "22761420", "url": "https://glygen.org/publication/PubMed/22761420" }, { "database": "PubMed", "id": "34012073", "url": "https://glygen.org/publication/PubMed/34012073" } ] }, { "annotation": "This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_055267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1190093171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1190093171" }, { "id": "rs1190093171", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1190093171#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 258, "end_pos": 258, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NPS); o-glyco-site-loss (S->P).", "chr_id": "6", "chr_pos": "47284409", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1159144056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159144056" }, { "id": "rs1159144056", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159144056" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 143, "end_pos": 143, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAA).", "chr_id": "6", "chr_pos": "47286265", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T143", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755924428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755924428" }, { "id": "rs755924428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755924428" }, { "id": "rs755924428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755924428" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 227, "end_pos": 227, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "47286012", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755924428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755924428" }, { "id": "rs755924428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755924428" }, { "id": "rs755924428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755924428" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 227, "end_pos": 227, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->K).", "chr_id": "6", "chr_pos": "47286012", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199925353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199925353" }, { "id": "rs199925353", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199925353" }, { "id": "rs199925353", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199925353" }, { "id": "rs199925353", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199925353#frequency_tab" }, { "id": "rs199925353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199925353" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 254, "end_pos": 254, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "6", "chr_pos": "47284421", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T254", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748038661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748038661" }, { "id": "rs748038661", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748038661" }, { "id": "rs748038661", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748038661#frequency_tab" }, { "id": "rs748038661", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748038661" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 257, "end_pos": 257, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->KSS).", "chr_id": "6", "chr_pos": "47284410", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N257", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368717560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368717560" }, { "id": "rs368717560", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368717560" }, { "id": "rs368717560", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368717560#frequency_tab" }, { "id": "rs368717560", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368717560" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 258, "end_pos": 258, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "6", "chr_pos": "47284408", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs941700655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs941700655" }, { "id": "rs941700655", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs941700655" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 261, "end_pos": 261, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "6", "chr_pos": "47284400", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753166934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753166934" }, { "id": "rs753166934", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753166934" }, { "id": "rs753166934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753166934" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 277, "end_pos": 277, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNT->NNT).", "chr_id": "6", "chr_pos": "47284352", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D277", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1209912500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209912500" }, { "id": "rs1209912500", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209912500" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 289, "end_pos": 289, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->DKT).", "chr_id": "6", "chr_pos": "47284316", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N289", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1356699026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356699026" }, { "id": "rs1356699026", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1356699026#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 289, "end_pos": 289, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->SKT).", "chr_id": "6", "chr_pos": "47284315", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N289", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75509", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75509" }, { "id": "rs146578369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146578369" }, { "id": "rs146578369", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146578369" }, { "id": "rs146578369", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146578369" }, { "id": "rs146578369", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146578369#frequency_tab" }, { "id": "rs146578369", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146578369" }, { "id": "21750719", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21750719" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 291, "end_pos": 291, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NKT->NKI).", "chr_id": "6", "chr_pos": "47284309", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T291", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs146578369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146578369" }, { "id": "rs146578369", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs146578369" }, { "id": "rs146578369", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146578369" }, { "id": "rs146578369", "database": "TOPMed", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75509", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75509" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75509", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75509" } ], "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": 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"UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGTSPSSSTALASCSRIARRATATMIAGSLLLLGFLSTTTAQPEQKASNLIGTYRHVDRATGQVLTCDKCPAGTYVSEHCTNTSLRVCSSCPVGTFTRHENGIEKCHDCSQPCPWPMIEKLPCAALTDRECTCPPGMFQSNATCAPHTVCPVGWGVRKKGTETEDVRCKQCARGTFSDVPSSVMKCKAYTDCLSQNLVVIKPGTKETDNVCGTLPSFSSSTSPSPGTAIFPRPEHMETHEVPSSTYVPKGMNSTESNSSASVRPKVLSSIQEGTVPDNTSSARGKEDVNKTLPNLQVVNHQQGPHHRHILKLLPSMEATGGEKSSTPIKGPKRGHPRQNLHKHFDINEHLPWMIVLFLLLVLVVIVVCSIRKSSRTLKKGPRQDPSAIVEKAGLKKSMTPTQNREKWIYYCNGHGIDILKLVAAQVGSQWKDIYQFLCNASEREVAAFSNGYTADHERAYAALQHWTIRGPEASLAQLISALRQHRRNDVVEKIRGLMEDTTQLETDKLALPMSPSPLSPSPIPSPNAKLENSALLTVEPSPQDKNKGFFVDESEPLLRCDSTSSGSSALSRNGSFITKEKKDTVLRQVRLDPCDLQPIFDDMLHFLNPEELRVIEEIPQAEDKLDRLFEIIGVKSQEASQTLLDSVYSHLPDLL", "length": 655, "header": "sp|O75509-1|TNR21_HUMAN Isoform 1 of Tumor necrosis factor receptor superfamily member 21 OS=Homo sapiens OX=9606 GN=TNFRSF21 PE=1 SV=1 CANONICAL=O75509-1" }, "isoforms": [ { "isoform_ac": "O75509-1", "url": "", "sequence": { "sequence": "MGTSPSSSTALASCSRIARRATATMIAGSLLLLGFLSTTTAQPEQKASNLIGTYRHVDRATGQVLTCDKCPAGTYVSEHCTNTSLRVCSSCPVGTFTRHENGIEKCHDCSQPCPWPMIEKLPCAALTDRECTCPPGMFQSNATCAPHTVCPVGWGVRKKGTETEDVRCKQCARGTFSDVPSSVMKCKAYTDCLSQNLVVIKPGTKETDNVCGTLPSFSSSTSPSPGTAIFPRPEHMETHEVPSSTYVPKGMNSTESNSSASVRPKVLSSIQEGTVPDNTSSARGKEDVNKTLPNLQVVNHQQGPHHRHILKLLPSMEATGGEKSSTPIKGPKRGHPRQNLHKHFDINEHLPWMIVLFLLLVLVVIVVCSIRKSSRTLKKGPRQDPSAIVEKAGLKKSMTPTQNREKWIYYCNGHGIDILKLVAAQVGSQWKDIYQFLCNASEREVAAFSNGYTADHERAYAALQHWTIRGPEASLAQLISALRQHRRNDVVEKIRGLMEDTTQLETDKLALPMSPSPLSPSPIPSPNAKLENSALLTVEPSPQDKNKGFFVDESEPLLRCDSTSSGSSALSRNGSFITKEKKDTVLRQVRLDPCDLQPIFDDMLHFLNPEELRVIEEIPQAEDKLDRLFEIIGVKSQEASQTLLDSVYSHLPDLL", "length": 655, "header": "sp|O75509-1|TNR21_HUMAN Isoform 1 of Tumor necrosis factor receptor superfamily member 21 OS=Homo sapiens OX=9606 GN=TNFRSF21 PE=1 SV=1 CANONICAL=O75509-1" }, "locus": { "chromosome": "6", "start_pos": 47309511, "end_pos": 47232768, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000296861.2", "url": "https://www.ensembl.org/id/ENST00000296861.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000296861.2", "url": "https://www.ensembl.org/id/ENSP00000296861.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 141, "start_aa": "Asn", "end_pos": 141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "O75509", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75509#ptm_processing" }, { "id": "19654028", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19654028" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 227, "start_aa": "Thr", "end_pos": 227, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr227", "evidence": [ { "id": "O75509", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "evidence": [ { "id": "1981", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1981" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G57888GL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "evidence": [ { "id": "1981", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1981" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 252, "start_aa": "Asn", "end_pos": 252, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn252", "evidence": [ { "id": "O75509", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75509#ptm_processing" }, { "id": "19654028", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19654028" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 257, "start_aa": "Asn", "end_pos": 257, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn257", "evidence": [ { "id": "O75509", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75509#ptm_processing" }, { "id": "19654028", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19654028" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 258, "start_aa": "Ser", "end_pos": 258, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser258", "evidence": [ { "id": "O75509", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 259, "start_aa": "Ser", "end_pos": 259, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser259", "evidence": [ { "id": "O75509", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 261, "start_aa": "Ser", "end_pos": 261, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser261", "evidence": [ { "id": "O75509", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 278, "start_aa": "Asn", "end_pos": 278, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn278", "evidence": [ { "id": "1981", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1981" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 278, "start_aa": "Asn", "end_pos": 278, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn278", "evidence": [ { "id": "O75509", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75509#ptm_processing" }, { "id": "19654028", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19654028" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 289, "start_aa": "Asn", "end_pos": 289, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn289", "evidence": [ { "id": "O75509", "database": "UniProtKB", "url": 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"evidence": [ { "database": "RefSeq", "id": "NP_055267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267" } ], "reference": [ { "type": "PubMed", "id": "34775426", "url": "https://glygen.org/publication/PubMed/34775426" } ] }, { "title": "Death Receptor 6 as a Prognostic Marker in Low-grade Glioma.", "journal": "Anticancer research", "date": "2022", "authors": "Stegmann SK, Kuhl S, Im NG, Diem-Dinh DT, Goertz L, Goldbrunner R, Timmer M", "evidence": [ { "database": "RefSeq", "id": "NP_055267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267" } ], "reference": [ { "type": "PubMed", "id": "35220214", "url": "https://glygen.org/publication/PubMed/35220214" } ] }, { "title": "Transcriptional regulation by lovastatin and 25-hydroxycholesterol in HepG2 cells and molecular cloning and expression of the cDNA for the human hepatic squalene synthase.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Jiang G, McKenzie TL, Conrad DG, Shechter I", 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"journal": "The Journal of biological chemistry", "date": "1996", "authors": "Vallett SM, Sanchez HB, Rosenfeld JM, Osborne TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781" } ], "reference": [ { "type": "PubMed", "id": "8647822", "url": "https://glygen.org/publication/PubMed/8647822" } ] }, { "title": "Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Zhou YD, Barnard M, Tian H, Li X, Ring HZ, Francke U, Shelton J, Richardson J, Russell DW, McKnight SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781" } ], "reference": [ { "type": "PubMed", "id": "9012850", "url": "https://glygen.org/publication/PubMed/9012850" } ] }, { "title": 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"id": "O75509", "url": "https://www.uniprot.org/uniprot/O75509" } ], "pmid": "" }, { "name": "B cell apoptotic process", "id": "GO:0001783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001783", "evidence": [ { "database": "UniProtKB", "id": "O75509", "url": "https://www.uniprot.org/uniprot/O75509" } ], "pmid": "" }, { "name": "oligodendrocyte apoptotic process", "id": "GO:0097252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097252", "evidence": [ { "database": "UniProtKB", "id": "O75509", "url": "https://www.uniprot.org/uniprot/O75509" } ], "pmid": "" }, { "name": "regulation of oligodendrocyte differentiation", "id": "GO:0048713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048713", "evidence": [ { "database": "UniProtKB", "id": "O75509", "url": "https://www.uniprot.org/uniprot/O75509" } ], "pmid": "" }, { "name": "negative regulation of myelination", "id": "GO:0031642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031642", "evidence": [ { "database": "UniProtKB", "id": "O75509", "url": "https://www.uniprot.org/uniprot/O75509" } ], "pmid": "" }, { "name": "negative regulation of interleukin-13 production", "id": "GO:0032696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032696", "evidence": [ { "database": "UniProtKB", "id": "O75509", "url": "https://www.uniprot.org/uniprot/O75509" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75509", "url": "https://www.uniprot.org/uniprot/O75509" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O75509", "url": "https://www.uniprot.org/uniprot/O75509" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "tumor necrosis factor receptor superfamily member 21 O-glycosylated 1 (human)", "definition": "A tumor necrosis 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