{ "uniprot_canonical_ac": "O75888-1", "uniprot_ac": "O75888", "uniprot_id": "TNF13_HUMAN", "mass": { "chemical_mass": 27433.0, "monoisotopic_mass": 27433.0 }, "refseq": { "ac": "NP_001185552", "name": "tumor necrosis factor ligand superfamily member 13 isoform zeta", "summary": "The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" }, "gene_names": [ { "name": "TNFSF13", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75888", "id": "O75888" }, { "name": "APRIL; CD256; TALL-2; TALL2; TNLG7B; TRDL-1; UNQ383/PRO715; ZTNF2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552", "id": "NP_001185552" }, { "name": "APRIL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75888", "id": "O75888" }, { "name": "PRO715", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75888", "id": "O75888" }, { "name": "TALL2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75888", "id": "O75888" }, { "name": "TNFSF13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552", "id": "NP_001185552" }, { "name": "ZTNF2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75888", "id": "O75888" } ], "protein_names": [ { "name": "Tumor necrosis factor ligand superfamily member 13", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75888" }, { "name": "A proliferation-inducing ligand", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75888" }, { "name": "APRIL", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75888" }, { "name": "TALL-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75888" }, { "name": "TNF- and APOL-related leukocyte expressed ligand 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75888" }, { "name": "TNF-related death ligand 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75888" }, { "name": "TRDL-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75888" }, { "name": "tumor necrosis factor ligand superfamily member 13 isoform zeta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552", "id": "NP_001185552" }, { "name": "tumor necrosis factor-related death ligand-1; tumor necrosis factor superfamily member 13; TNF- and APOL-related leukocyte expressed ligand 2; tumor necrosis factor-like protein ZTNF2; tumor necrosis factor ligand 7B; a proliferation-inducing ligand; tumor necrosis factor (ligand) superfamily, member 13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552", "id": "NP_001185552" } ], "function": [ { "annotation": "APRIL Drives a Coordinated but Diverse Response as a Foundation for Plasma Cell Longevity.", "evidence": [ { "database": "RefSeq", "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" }, { "database": "PubMed", "id": "36130130", "url": "https://glygen.org/publication/PubMed/36130130" } ] }, { "annotation": "APRIL and BAFF play a key role in differentiating vitreoretinal lymphoma from uveitis.", "evidence": [ { "database": "RefSeq", "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" }, { "database": "PubMed", "id": "35820532", "url": "https://glygen.org/publication/PubMed/35820532" } ] }, { "annotation": "Cytokine that binds to TNFRSF13B/TACI and to TNFRSF17/BCMA. Plays a role in the regulation of tumor cell growth. May be involved in monocyte/macrophage-mediated immunological processes.", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888#function" }, { "database": "PubMed", "id": "10973284", "url": "https://glygen.org/publication/PubMed/10973284" } ] }, { "annotation": "Mononuclear cells from patients with rhupus are influenced by TNF in their production of gp130/sIL-6Rb and APRIL.", "evidence": [ { "database": "RefSeq", "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" }, { "database": "PubMed", "id": "37880158", "url": "https://glygen.org/publication/PubMed/37880158" } ] }, { "annotation": "Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" }, { "database": "PubMed", "id": "35780200", "url": "https://glygen.org/publication/PubMed/35780200" } ] }, { "annotation": "Spatial heterogeneity for APRIL production by eosinophils in the small intestine.", "evidence": [ { "database": "RefSeq", "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" }, { "database": "PubMed", "id": "36808499", "url": "https://glygen.org/publication/PubMed/36808499" } ] }, { "annotation": "The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1597833238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1597833238" }, { "id": "rs1597833238", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1597833238" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 124, "end_pos": 124, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->IAT).", "chr_id": "17", "chr_pos": "7559879", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs138604224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138604224" }, { "id": "rs138604224", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138604224" }, { "id": "rs138604224", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138604224" }, { "id": "rs138604224", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138604224#frequency_tab" }, { "id": "rs138604224", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138604224" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 124, "end_pos": 124, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->KAT).", "chr_id": "17", "chr_pos": "7559880", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.001398", "site_lbl": "N124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372033281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372033281" }, { "id": "rs372033281", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372033281" }, { "id": "rs372033281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372033281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 132, "end_pos": 132, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "17", "chr_pos": "7560057", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1447434870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447434870" }, { "id": "rs1447434870", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447434870" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 173, "end_pos": 173, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "17", "chr_pos": "7560362", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D173", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 101, "end_pos": 104, "sequence_org": "RKRR", "sequence_mut": "AKRA", "comment": "Abolishes proteolytic processing.", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" }, { "database": "PubMed", "id": "11571266", "url": "https://glygen.org/publication/PubMed/11571266" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161955" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161955" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161955" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161955" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161955" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161955" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000161955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161955" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161955" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000161955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161955" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "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", "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "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": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "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": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75888", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75888" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "common_name": "Human" } ], "gene": [ { "name": "TNFSF13", "url": "https://www.uniprot.org/uniprot/O75888", "locus": { "chromosome": "17", "start_pos": 7561608, "end_pos": 7558292, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000161955", "url": "https://www.ensembl.org/id/ENSG00000161955" } ] } } ], "crossref": [ { "id": "ENSG00000161955", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161955", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00184", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00184", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3713436", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3713436", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "TNFSF13", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFSF13", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8741", "url": "https://www.ncbi.nlm.nih.gov/gene/8741", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2946", "url": "https://glyconnect.expasy.org/browser/proteins/2946", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "11928", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11928", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75888", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75888*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006052", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006052", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008983", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008983", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR021184", "url": "https://www.ebi.ac.uk/interpro/entry/IPR021184", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8741", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8741", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604472", "url": "http://www.omim.org/entry/604472", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75888", "url": "https://www.nextprot.org/entry/NX_O75888", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "MAYNTCY", "url": "https://omabrowser.org/oma/group/MAYNTCY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5358224at2759", "url": "http://www.orthodb.org/?query=5358224at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15151", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15151", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15151:SF12", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15151:SF12", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4ZCH", "url": "https://www.rcsb.org/structure/4ZCH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00229", "url": "http://pfam.xfam.org/family/PF00229", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75888", "url": "https://pharos.nih.gov/targets/O75888", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9JF68", "url": "https://www.uniprot.org/uniprot/C9JF68", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JF68-1", "url": "https://www.uniprot.org/uniprot/C9JF68-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JFN2", "url": "https://www.uniprot.org/uniprot/C9JFN2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JFN2-1", "url": "https://www.uniprot.org/uniprot/C9JFN2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJ28", "url": "https://www.uniprot.org/uniprot/K7EJ28", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJ28-1", "url": "https://www.uniprot.org/uniprot/K7EJ28-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75888-1", "url": "https://www.uniprot.org/uniprot/O75888-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75888-2", "url": "https://www.uniprot.org/uniprot/O75888-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75888-3", "url": "https://www.uniprot.org/uniprot/O75888-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75888-4", "url": "https://www.uniprot.org/uniprot/O75888-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75888-5", "url": "https://www.uniprot.org/uniprot/O75888-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2QBA2", "url": "https://www.uniprot.org/uniprot/Q2QBA2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2QBA2-1", "url": "https://www.uniprot.org/uniprot/Q2QBA2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPASSPFLLAPKGPPGNMGGPVREPALSVALWLSWGAALGAVACAMALLTQQTELQSLRREVSRLQGTGGPSQNGEGYPWQSLPEQSSDALEAWENGERSRKRRAVLTQKQKKQHSVLHLVPINATSKDDSDVTEVMWQPALRRGRGLQAQGYGVRIQDAGVYLLYSQVLFQDVTFTMGQVVSREGQGRQETLFRCIRSMPSHPDRAYNSCYSAGVFHLHQGDILSVIIPRARAKLNLSPHGTFLGFVKL", "length": 250, "header": "sp|O75888-1|TNF13_HUMAN Isoform 1 of Tumor necrosis factor ligand superfamily member 13 OS=Homo sapiens OX=9606 GN=TNFSF13 PE=1 SV=1 CANONICAL=O75888-1" }, "isoforms": [ { "isoform_ac": "C9JF68-1", "url": "", "sequence": { "sequence": "MGGPVREPALSVALWLSWGAALGAVACAMALLTQQTELQSLRREVSRLQGTGGPSQNGEGYPWQSLPEQSSDALEAWENGERSRKRRAVLTQKQKKQHSVLHLVPINATSKDDSDVTEVMWQPALRRGRGLQAQGYGVRIQDAGVYLLYSQVLFQDVT", "length": 158, "header": "tr|C9JF68-1|TNF13_HUMAN Computationally mapped isoform of Tumor necrosis factor ligand superfamily member 13 OS=Homo sapiens OX=9606 GN=TNFSF13 PE=1 SV=1 CANONICAL=O75888-1" }, "locus": { "chromosome": "17", "start_pos": 7560370, "end_pos": 7559091, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436057.5", "url": "https://www.ensembl.org/id/ENST00000436057.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000410094.1", "url": "https://www.ensembl.org/id/ENSP00000410094.1" } ] } }, { "isoform_ac": "C9JFN2-1", "url": "", "sequence": { "sequence": "MGGPVREPALSVALWLSWGAALGAVACAMALLTQQTELQSLRREVSRLQGTGGPSQNGEGYPWQSLPEQSSDALEAWENGERSRKRRAVLTQKQKNDSDVTEVMWQPALRRGRGLQAQGYGVRIQDAGVYLLYSQVLFQDVTFTMGQVVS", "length": 150, "header": "tr|C9JFN2-1|C9JFN2_HUMAN Computationally mapped isoform of TNF superfamily member 13 OS=Homo sapiens OX=9606 GN=TNFSF13 PE=3 SV=1 CANONICAL=O75888-1" }, "locus": { "chromosome": "17", "start_pos": 7560394, "end_pos": 7559091, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438470.5", "url": "https://www.ensembl.org/id/ENST00000438470.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390771.1", "url": "https://www.ensembl.org/id/ENSP00000390771.1" } ] } }, { "isoform_ac": "K7EJ28-1", "url": "", "sequence": { "sequence": "MWQPALRRGRGLQAQGYGVRIQDAGVYLLYSQVLFQDVTFTMGQVVSREGQGRQETLFRCIRSMPSHPDRAYNSCYSAGVFHLHQGDILSVIIPRARAKLNLSPHGTFLGFVKL", "length": 114, "header": "tr|K7EJ28-1|TNF13_HUMAN Computationally mapped isoform of Tumor necrosis factor ligand superfamily member 13 OS=Homo sapiens OX=9606 GN=TNFSF13 PE=1 SV=1 CANONICAL=O75888-1" }, "locus": { "chromosome": "17", "start_pos": 7560830, "end_pos": 7560072, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000483039.5", "url": "https://www.ensembl.org/id/ENST00000483039.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464998.1", "url": "https://www.ensembl.org/id/ENSP00000464998.1" } ] } }, { "isoform_ac": "O75888-1", "url": "", "sequence": { "sequence": "MPASSPFLLAPKGPPGNMGGPVREPALSVALWLSWGAALGAVACAMALLTQQTELQSLRREVSRLQGTGGPSQNGEGYPWQSLPEQSSDALEAWENGERSRKRRAVLTQKQKKQHSVLHLVPINATSKDDSDVTEVMWQPALRRGRGLQAQGYGVRIQDAGVYLLYSQVLFQDVTFTMGQVVSREGQGRQETLFRCIRSMPSHPDRAYNSCYSAGVFHLHQGDILSVIIPRARAKLNLSPHGTFLGFVKL", "length": 250, "header": "sp|O75888-1|TNF13_HUMAN Isoform 1 of Tumor necrosis factor ligand superfamily member 13 OS=Homo sapiens OX=9606 GN=TNFSF13 PE=1 SV=1 CANONICAL=O75888-1" }, "locus": { "chromosome": "17", "start_pos": 7560830, "end_pos": 7559040, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000338784.9", "url": "https://www.ensembl.org/id/ENST00000338784.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000343505.4", "url": "https://www.ensembl.org/id/ENSP00000343505.4" } ] } }, { "isoform_ac": "O75888-2", "url": "", "sequence": { "sequence": "MPASSPFLLAPKGPPGNMGGPVREPALSVALWLSWGAALGAVACAMALLTQQTELQSLRREVSRLQGTGGPSQNGEGYPWQSLPEQSSDALEAWENGERSRKRRAVLTQKQKNDSDVTEVMWQPALRRGRGLQAQGYGVRIQDAGVYLLYSQVLFQDVTFTMGQVVSREGQGRQETLFRCIRSMPSHPDRAYNSCYSAGVFHLHQGDILSVIIPRARAKLNLSPHGTFLGFVKL", "length": 234, "header": "sp|O75888-2|TNF13_HUMAN Isoform 2 of Tumor necrosis factor ligand superfamily member 13 OS=Homo sapiens OX=9606 GN=TNFSF13 PE=1 SV=1 CANONICAL=O75888-1" }, "locus": { "chromosome": "17", "start_pos": 7560830, "end_pos": 7559040, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000349228.8", "url": "https://www.ensembl.org/id/ENST00000349228.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000314455.6", "url": "https://www.ensembl.org/id/ENSP00000314455.6" } ] } }, { "isoform_ac": "O75888-3", "url": "", "sequence": { "sequence": "MPASSPFLLAPKGPPGNMGGPVREPALSVALWLSWGAALGAVACAMALLTQQTELQSLRREVSRLQGTGGPSQNGEGYPWQSLPEQSSDALEAWENGERSRKRRAVLTQKQKKQHSVLHLVPINATSKDDSDVTEVMWQPALRRGRGLQAQGYGVRIQDAGVYLLYSQVLFQDVTFTMGQVVSREGQGRQETLFRCIRSMPSHPDRAYNSCYSAGVFHLHQGDILSVIIPRARAKLNLSPHGTFLGL", "length": 247, "header": "sp|O75888-3|TNF13_HUMAN Isoform 3 of Tumor necrosis factor ligand superfamily member 13 OS=Homo sapiens OX=9606 GN=TNFSF13 PE=1 SV=1 CANONICAL=O75888-1" }, "locus": { "chromosome": "17", "start_pos": 7561002, "end_pos": 7559040, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396545.4", "url": "https://www.ensembl.org/id/ENST00000396545.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000379794.4", "url": "https://www.ensembl.org/id/ENSP00000379794.4" } ] } }, { "isoform_ac": "O75888-4", "url": "", "sequence": { "sequence": "MPASSPFLLAPKGPPGNMGGPVREPALSVALWLSWGAALGAVACAMALLTQQTELQSLRREVSRLQGTGGPSQNGEGYPWQSLPEQHSVLHLVPINATSKDDSDVTEVMWQPALRRGRGLQAQGYGVRIQDAGVYLLYSQVLFQDVTFTMGQVVSREGQGRQETLFRCIRSMPSHPDRAYNSCYSAGVFHLHQGDILSVIIPRARAKLNLSPHGTFLGFVKL", "length": 222, "header": "sp|O75888-4|TNF13_HUMAN Isoform 4 of Tumor necrosis factor ligand superfamily member 13 OS=Homo sapiens OX=9606 GN=TNFSF13 PE=1 SV=1 CANONICAL=O75888-1" }, "locus": { "chromosome": "17", "start_pos": 7560830, "end_pos": 7559040, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000625791.2", "url": "https://www.ensembl.org/id/ENST00000625791.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486052.1", "url": "https://www.ensembl.org/id/ENSP00000486052.1" } ] } }, { "isoform_ac": "O75888-5", "url": "", "sequence": { "sequence": "MGGPVREPALSVALWLSWGAALGAVACAMALLTQQTELQSLRREVSRLQGTGGPSQNGEGYPWQSLPEQHSVLHLVPINATSKDDSDVTEVMWQPALRRGRGLQAQGYGVRIQDAGVYLLYSQVLFQDVTFTMGQVVSREGQGRQETLFRCIRSMPSHPDRAYNSCYSAGVFHLHQGDILSVIIPRARAKLNLSPHGTFLGFVKL", "length": 205, "header": "sp|O75888-5|TNF13_HUMAN Isoform 5 of Tumor necrosis factor ligand superfamily member 13 OS=Homo sapiens OX=9606 GN=TNFSF13 PE=1 SV=1 CANONICAL=O75888-1" }, "locus": { "chromosome": "17", "start_pos": 7560830, "end_pos": 7559091, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396542.5", "url": "https://www.ensembl.org/id/ENST00000396542.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000379792.1", "url": "https://www.ensembl.org/id/ENSP00000379792.1" } ] } }, { "isoform_ac": "Q2QBA2-1", "url": "", "sequence": { "sequence": "MPASSPFLLAPKGPPGNMGGPVREPALSVALWLSWGAALGAVACAMALLTQQTELQSLRREVSRLQGTGGPSQNGEGYPWQSLPEQQHSVLHLVPINATSKDDSDVTEVMWQPALRRGRGLQAQGYGVRIQDAGVYLLYSQVLFQDVTFTMGQVVSREGQGRQETLFRCIRSMPSHPDRAYNSCYSAGVFHLHQGDILSVIIPRARAKLNLSPHGTFLGFVKL", "length": 223, "header": "tr|Q2QBA2-1|Q2QBA2_HUMAN Computationally mapped isoform of Tumor necrosis factor (Ligand) superfamily member 13 transcript variant delta OS=Homo sapiens OX=9606 GN=TNFSF13 PE=1 SV=1 CANONICAL=O75888-1" }, "locus": { "chromosome": "17", "start_pos": 7560830, "end_pos": 7559040, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380535.8", "url": "https://www.ensembl.org/id/ENST00000380535.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000369908.5", "url": "https://www.ensembl.org/id/ENSP00000369908.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G08146BT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G20312EM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G42962KI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G44215PV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G45495MK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G51413EV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G57818FI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G71146HJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G75983OB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G83229XP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G86795LJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "2946", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2946" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "O75888", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75888#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of a new member of the tumor necrosis factor family and its receptor, a human ortholog of mouse GITR.", "journal": "Current biology : CB", "date": "1999", "authors": "Gurney AL, Marsters SA, Huang RM, Pitti RM, Mark DT, Baldwin DT, Gray AM, Dowd AD, Brush AD, Heldens AD, Schow AD, Goddard AD, Wood WI, Baker KP, Godowski PJ, Ashkenazi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10074428", "url": "https://glygen.org/publication/PubMed/10074428" } ] }, { "title": "TALL-1 is a novel member of the TNF family that is down-regulated by mitogens.", "journal": "J. Leukoc. Biol.", "date": "1999", "authors": "Shu H B, Hu W H, Johnson H", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "reference": [ { "type": "PubMed", "id": "10331498", "url": "https://glygen.org/publication/PubMed/10331498" } ] }, { "title": "BAFF, a novel ligand of the tumor necrosis factor family, stimulates B cell growth.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Schneider P, MacKay F, Steiner V, Hofmann K, Bodmer JL, Holler N, Ambrose C, Lawton P, Bixler S, Acha-Orbea H, Valmori D, Romero P, Werner-Favre C, Zubler RH, Browning JL, Tschopp J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10359578", "url": "https://glygen.org/publication/PubMed/10359578" } ] }, { "title": "BLyS: member of the tumor necrosis factor family and B lymphocyte stimulator.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Moore PA, Belvedere O, Orr A, Pieri K, LaFleur DW, Feng P, Soppet D, Charters M, Gentz R, Parmelee D, Li Y, Galperina O, Giri J, Roschke V, Nardelli B, Carrell J, Sosnovtseva S, Greenfield W, Ruben SM, Olsen HS, Fikes J, Hilbert DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10398604", "url": "https://glygen.org/publication/PubMed/10398604" } ] }, { "title": "Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells.", "journal": "Human molecular genetics", "date": "1999", "authors": "Ezer S, Bayes M, Elomaa O, Schlessinger D, Kere J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10484778", "url": "https://glygen.org/publication/PubMed/10484778" } ] }, { "title": "VEGI, a new member of the TNF family activates nuclear factor-kappa B and c-Jun N-terminal kinase and modulates cell growth.", "journal": "Oncogene", "date": "1999", "authors": "Haridas V, Shrivastava A, Su J, Yu GL, Ni J, Liu D, Chen SF, Ni Y, Ruben SM, Gentz R, Aggarwal BB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10597252", "url": "https://glygen.org/publication/PubMed/10597252" } ] }, { "title": "Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.", "journal": "Nature genetics", "date": "2000", "authors": "Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10615125", "url": "https://glygen.org/publication/PubMed/10615125" } ] }, { "title": "APRIL/TRDL-1, a tumor necrosis factor-like ligand, stimulates cell death.", "journal": "Cancer Res.", "date": "2000", "authors": "Kelly K, Manos E, Jensen G, Nadauld L, Jones DA", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "reference": [ { "type": "PubMed", "id": "10706119", "url": "https://glygen.org/publication/PubMed/10706119" } ] }, { "title": "APRIL and TALL-I and receptors BCMA and TACI: system for regulating humoral immunity.", "journal": "Nature immunology", "date": "2000", "authors": "Yu G, Boone T, Delaney J, Hawkins N, Kelley M, Ramakrishnan M, McCabe S, Qiu WR, Kornuc M, Xia XZ, Guo J, Stolina M, Boyle WJ, Sarosi I, Hsu H, Senaldi G, Theill LE", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "reference": [ { "type": "PubMed", "id": "10973284", "url": "https://glygen.org/publication/PubMed/10973284" } ] }, { "title": "Protein ligands to HuR modulate its interaction with target mRNAs in vivo.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Brennan CM, Gallouzi IE, Steitz JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520" } ], "reference": [ { "type": "PubMed", "id": "11018049", "url": "https://glygen.org/publication/PubMed/11018049" } ] }, { "title": "Biologically active APRIL is secreted following intracellular processing in the Golgi apparatus by furin convertase.", "journal": "EMBO reports", "date": "2001", "authors": "Lopez-Fraga M, Fernandez R, Albar JP, Hahne M", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" }, { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "11571266", "url": "https://glygen.org/publication/PubMed/11571266" } ] }, { "title": "A 40-bp RNA element that mediates stabilization of vascular endothelial growth factor mRNA by HuR.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Goldberg-Cohen I, Furneauxb H, Levy AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520" } ], "reference": [ { "type": "PubMed", "id": "11834731", "url": "https://glygen.org/publication/PubMed/11834731" } ] }, { "title": "Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice.", "journal": "Current biology : CB", "date": "2002", "authors": "Yan M, Zhang Z, Brady JR, Schilbach S, Fairbrother WJ, Dixit VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "11882293", "url": "https://glygen.org/publication/PubMed/11882293" } ] }, { "title": "TL1A is a TNF-like ligand for DR3 and TR6/DcR3 and functions as a T cell costimulator.", "journal": "Immunity", "date": "2002", "authors": "Migone TS, Zhang J, Luo X, Zhuang L, Chen C, Hu B, Hong JS, Perry JW, Chen SF, Zhou JX, Cho YH, Ullrich S, Kanakaraj P, Carrell J, Boyd E, Olsen HS, Hu G, Pukac L, Liu D, Ni J, Kim S, Gentz R, Feng P, Moore PA, Ruben SM, Wei P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "11911831", "url": "https://glygen.org/publication/PubMed/11911831" } ] }, { "title": "A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.", "journal": "Human molecular genetics", "date": "2002", "authors": "Cundy T, Hegde M, Naot D, Chong B, King A, Wallace R, Mulley J, Love DR, Seidel J, Fawkner M, Banovic T, Callon KE, Grey AB, Reid IR, Middleton-Hardie CA, Cornish J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "12189164", "url": "https://glygen.org/publication/PubMed/12189164" } ] }, { "title": "An endogenous hybrid mRNA encodes TWE-PRIL, a functional cell surface TWEAK-APRIL fusion protein.", "journal": "EMBO J.", "date": "2002", "authors": "Pradet-Balade B, Medema J P, L\u00f3pez-Fraga M, Lozano J C, Kolfschoten G M, Picard A, Mart\u00ednez-A C, Garcia-Sanz J A, Hahne M", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "reference": [ { "type": "PubMed", "id": "12411489", "url": "https://glygen.org/publication/PubMed/12411489" } ] }, { "title": "Signalling pathways of the TNF superfamily: a double-edged sword.", "journal": "Nature reviews. Immunology", "date": "2003", "authors": "Aggarwal BB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "12949498", "url": "https://glygen.org/publication/PubMed/12949498" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity.", "journal": "Structure (London, England : 1993)", "date": "2003", "authors": "Hymowitz SG, Compaan DM, Yan M, Wallweber HJ, Dixit VM, Starovasnik MA, de Vos AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "14656435", "url": "https://glygen.org/publication/PubMed/14656435" } ] }, { "title": "Identification of a target RNA motif for RNA-binding protein HuR.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Lopez de Silanes I, Zhan M, Lal A, Yang X, Gorospe M", "evidence": [ { "database": "Reactome", "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520" } ], "reference": [ { "type": "PubMed", "id": "14981256", "url": "https://glygen.org/publication/PubMed/14981256" } ] }, { "title": "Concurrent versus individual binding of HuR and AUF1 to common labile target mRNAs.", "journal": "The EMBO journal", "date": "2004", "authors": "Lal A, Mazan-Mamczarz K, Kawai T, Yang X, Martindale JL, Gorospe M", "evidence": [ { "database": "Reactome", "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520" } ], "reference": [ { "type": "PubMed", "id": "15257295", "url": "https://glygen.org/publication/PubMed/15257295" } ] }, { "title": "Cross-talk between activated human NK cells and CD4+ T cells via OX40-OX40 ligand interactions.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Zingoni A, Sornasse T, Cocks BG, Tanaka Y, Santoni A, Lanier LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "15356117", "url": "https://glygen.org/publication/PubMed/15356117" } ] }, { "title": "T cell proliferation by direct cross-talk between OX40 ligand on human mast cells and OX40 on human T cells: comparison of gene expression profiles between human tonsillar and lung-cultured mast cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Kashiwakura J, Yokoi H, Saito H, Okayama Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "15470070", "url": "https://glygen.org/publication/PubMed/15470070" } ] }, { "title": "Expression of CD83 is regulated by HuR via a novel cis-active coding region RNA element.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Prechtel AT, Chemnitz J, Schirmer S, Ehlers C, Langbein-Detsch I, Stulke J, Dabauvalle MC, Kehlenbach RH, Hauber J", "evidence": [ { "database": "Reactome", "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520" } ], "reference": [ { "type": "PubMed", "id": "16484227", "url": "https://glygen.org/publication/PubMed/16484227" } ] }, { "title": "Signals from OX40 regulate nuclear factor of activated T cells c1 and T cell helper 2 lineage commitment.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "So T, Song J, Sugie K, Altman A, Croft M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "16501042", "url": "https://glygen.org/publication/PubMed/16501042" } ] }, { "title": "The T cell activation antigen CD27 is a member of the nerve growth factor/tumor necrosis factor receptor gene family.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1991", "authors": "Camerini D, Walz G, Loenen WA, Borst J, Seed B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "1655907", "url": "https://glygen.org/publication/PubMed/1655907" } ] }, { "title": "Analysis of nucleocytoplasmic trafficking of the HuR ligand APRIL and its influence on CD83 expression.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Fries B, Heukeshoven J, Hauber I, Gruttner C, Stocking C, Kehlenbach RH, Hauber J, Chemnitz J", "evidence": [ { "database": "Reactome", "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520" } ], "reference": [ { "type": "PubMed", "id": "17178712", "url": "https://glygen.org/publication/PubMed/17178712" } ] }, { "title": "Protein kinase C alpha-dependent phosphorylation of the mRNA-stabilizing factor HuR: implications for posttranscriptional regulation of cyclooxygenase-2.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Doller A, Huwiler A, Muller R, Radeke HH, Pfeilschifter J, Eberhardt W", "evidence": [ { "database": "Reactome", "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520" } ], "reference": [ { "type": "PubMed", "id": "17392515", "url": "https://glygen.org/publication/PubMed/17392515" } ] }, { "title": "Specific protein domains mediate cooperative assembly of HuR oligomers on AU-rich mRNA-destabilizing sequences.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Fialcowitz-White EJ, Brewer BY, Ballin JD, Willis CD, Toth EA, Wilson GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520" } ], "reference": [ { "type": "PubMed", "id": "17517897", "url": "https://glygen.org/publication/PubMed/17517897" } ] }, { "title": "Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.", "journal": "Nature genetics", "date": "2007", "authors": "Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "17632511", "url": "https://glygen.org/publication/PubMed/17632511" } ] }, { "title": "Posttranslational modification of the AU-rich element binding protein HuR by protein kinase Cdelta elicits angiotensin II-induced stabilization and nuclear export of cyclooxygenase 2 mRNA.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Doller A, Akool el-S, Huwiler A, Muller R, Radeke HH, Pfeilschifter J, Eberhardt W", "evidence": [ { "database": "Reactome", "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520" } ], "reference": [ { "type": "PubMed", "id": "18285462", "url": "https://glygen.org/publication/PubMed/18285462" } ] }, { "title": "The TNF-family receptor DR3 is essential for diverse T cell-mediated inflammatory diseases.", "journal": "Immunity", "date": "2008", "authors": "Meylan F, Davidson TS, Kahle E, Kinder M, Acharya K, Jankovic D, Bundoc V, Hodges M, Shevach EM, Keane-Myers A, Wang EC, Siegel RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "18571443", "url": "https://glygen.org/publication/PubMed/18571443" } ] }, { "title": "Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.", "journal": "American journal of human genetics", "date": "2008", "authors": "Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "18606301", "url": "https://glygen.org/publication/PubMed/18606301" } ] }, { "title": "Phosphorylation of the HuR ligand APRIL by casein kinase 2 regulates CD83 expression.", "journal": "European journal of immunology", "date": "2009", "authors": "Chemnitz J, Pieper D, Gruttner C, Hauber J", "evidence": [ { "database": "Reactome", "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520" } ], "reference": [ { "type": "PubMed", "id": "19130553", "url": "https://glygen.org/publication/PubMed/19130553" } ] }, { "title": "The structure of the trimer of human 4-1BB ligand is unique among members of the tumor necrosis factor superfamily.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Won EY, Cha K, Byun JS, Kim DU, Shin S, Ahn B, Kim YH, Rice AJ, Walz T, Kwon BS, Cho HS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "20032458", "url": "https://glygen.org/publication/PubMed/20032458" } ] }, { "title": "Tandem phosphorylation of serines 221 and 318 by protein kinase Cdelta coordinates mRNA binding and nucleocytoplasmic shuttling of HuR.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Doller A, Schlepckow K, Schwalbe H, Pfeilschifter J, Eberhardt W", "evidence": [ { "database": "Reactome", "id": "R-HSA-450520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520" } ], "reference": [ { "type": "PubMed", "id": "20086103", "url": "https://glygen.org/publication/PubMed/20086103" } ] }, { "title": "Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.", "journal": "The British journal of dermatology", "date": "2010", "authors": "Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "20222921", "url": "https://glygen.org/publication/PubMed/20222921" } ] }, { "title": "Control of immunity by the TNFR-related molecule OX40 (CD134).", "journal": "Annual review of immunology", "date": "2010", "authors": "Croft M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "20307208", "url": "https://glygen.org/publication/PubMed/20307208" } ] }, { "title": "OX40-OX40 ligand interaction in T-cell-mediated immunity and immunopathology.", "journal": "Advances in immunology", "date": "2010", "authors": "Ishii N, Takahashi T, Soroosh P, Sugamura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "20510730", "url": "https://glygen.org/publication/PubMed/20510730" } ] }, { "title": "Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.", "journal": "Human mutation", "date": "2011", "authors": "Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Maniere MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "20979233", "url": "https://glygen.org/publication/PubMed/20979233" } ] }, { "title": "Decoy strategies: the structure of TL1A:DcR3 complex.", "journal": "Structure (London, England : 1993)", "date": "2011", "authors": "Zhan C, Patskovsky Y, Yan Q, Li Z, Ramagopal U, Cheng H, Brenowitz M, Hui X, Nathenson SG, Almo SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "21300286", "url": "https://glygen.org/publication/PubMed/21300286" } ] }, { "title": "Aberrant expression of functional BAFF-system receptors by malignant B-cell precursors impacts leukemia cell survival.", "journal": "PLoS ONE", "date": "2011", "authors": "Maia Sara, Pelletier Marc, Ding Jixin, Hsu Yen-Ming, Sallan Stephen E, Rao Sambasiva P, Nadler Lee M, Cardoso Angelo A", "evidence": [ { "database": "UniProtKB", "id": "Q2QBA2", "url": "https://www.uniprot.org/uniprot/Q2QBA2" } ], "reference": [ { "type": "PubMed", "id": "21687682", "url": "https://glygen.org/publication/PubMed/21687682" } ] }, { "title": "CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia.", "journal": "The Journal of allergy and clinical immunology", "date": "2012", "authors": "van Montfrans JM, Hoepelman AI, Otto S, van Gijn M, van de Corput L, de Weger RA, Monaco-Shawver L, Banerjee PP, Sanders EA, Jol-van der Zijde CM, Betts MR, Orange JS, Bloem AC, Tesselaar K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "22197273", "url": "https://glygen.org/publication/PubMed/22197273" } ] }, { "title": "Crystal structure of human RANKL complexed with its decoy receptor osteoprotegerin.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2012", "authors": "Luan X, Lu Q, Jiang Y, Zhang S, Wang Q, Yuan H, Zhao W, Wang J, Wang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "22664871", "url": "https://glygen.org/publication/PubMed/22664871" } ] }, { "title": "Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.", "journal": "Haematologica", "date": "2013", "authors": "Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Forster-Waldl E, Borkhardt A, Boztug K, Bienemann K, Seidel MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "22801960", "url": "https://glygen.org/publication/PubMed/22801960" } ] }, { "title": "The ectodysplasin pathway: from diseases to adaptations.", "journal": "Trends in genetics : TIG", "date": "2014", "authors": "Sadier A, Viriot L, Pantalacci S, Laudet V", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "24070496", "url": "https://glygen.org/publication/PubMed/24070496" } ] }, { "title": "Quantitative Longitudinal Inventory of the N-Glycoproteome of Human Milk from a Single Donor Reveals the Highly Variable Repertoire and Dynamic Site-Specific Changes.", "journal": "Journal of proteome research", "date": "2020", "authors": "Zhu J, Lin YH, Dingess KA, Mank M, Stahl B, Heck AJR", "evidence": [ { "database": "GlyConnect", "id": "2946", "url": "https://glyconnect.expasy.org/browser/proteins/2946" } ], "reference": [ { "type": "PubMed", "id": "32125861", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "title": "Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus.", "journal": "Scientific reports", "date": "2022", "authors": "Ortiz-Aljaro P, Montes-Cano MA, Garcia-Lozano JR, Aquino V, Carmona R, Perez-Florido J, Garcia-Hernandez FJ, Dopazo J, Gonzalez-Escribano MF", "evidence": [ { "database": "RefSeq", "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" } ], "reference": [ { "type": "PubMed", "id": "35780200", "url": "https://glygen.org/publication/PubMed/35780200" } ] }, { "title": "APRIL and BAFF play a key role in differentiating vitreoretinal lymphoma from uveitis.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "2022-10-01", "authors": "Tian Sha, Chen Kun, Xiao Jianjiang, Wang Di, Zhou Xian, Li Xiangyu, Shi Huimin, Li Yi, Cao Xia, Guan Ming, Chen Bobin, Wang Qingping", "evidence": [ { "database": "RefSeq", "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" } ], "reference": [ { "type": "PubMed", "id": "35820532", "url": "https://glygen.org/publication/PubMed/35820532" } ] }, { "title": "APRIL Drives a Coordinated but Diverse Response as a Foundation for Plasma Cell Longevity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2022", "authors": "Stephenson S, Care MA, Doody GM, Tooze RM", "evidence": [ { "database": "RefSeq", "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" } ], "reference": [ { "type": "PubMed", "id": "36130130", "url": "https://glygen.org/publication/PubMed/36130130" } ] }, { "title": "Spatial heterogeneity for APRIL production by eosinophils in the small intestine.", "journal": "Journal of leukocyte biology", "date": "2023-03-29", "authors": "Sturm Nathalie, Roger-Margueritat Morgane, Pierrel Fabien, Lehours Philippe, Genevay Muriel, Huard Bertrand", "evidence": [ { "database": "RefSeq", "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" } ], "reference": [ { "type": "PubMed", "id": "36808499", "url": "https://glygen.org/publication/PubMed/36808499" } ] }, { "title": "Mononuclear cells from patients with rhupus are influenced by TNF in their production of gp130/sIL-6Rb and APRIL.", "journal": "Lupus science & medicine", "date": "2023-10", "authors": "Amezcua-Guerra Luis M, S\u00e1nchez-Mu\u00f1oz Fausto, Guzm\u00e1n-Garc\u00eda Santiago, M\u00e1rquez-Velasco Ricardo, Becerril-Villanueva Enrique, V\u00e1zquez-Panchos Yadira, Ju\u00e1rez-Vicu\u00f1a Yaneli", "evidence": [ { "database": "RefSeq", "id": "NP_001185552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185552" } ], "reference": [ { "type": "PubMed", "id": "37880158", "url": "https://glygen.org/publication/PubMed/37880158" } ] }, { "title": "Identification of a human OX-40 ligand, a costimulator of CD4+ T cells with homology to tumor necrosis factor.", "journal": "The Journal of experimental medicine", "date": "1994", "authors": "Godfrey WR, Fagnoni FF, Harara MA, Buck D, Engleman EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "7913952", "url": "https://glygen.org/publication/PubMed/7913952" } ] }, { "title": "The cloning of CD70 and its identification as the ligand for CD27.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1994", "authors": "Bowman MR, Crimmins MA, Yetz-Aldape J, Kriz R, Kelleher K, Herrmann S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "8120384", "url": "https://glygen.org/publication/PubMed/8120384" } ] }, { "title": "Reverse signaling via CD30 ligand.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1996", "authors": "Wiley SR, Goodwin RG, Smith CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "8871664", "url": "https://glygen.org/publication/PubMed/8871664" } ] }, { "title": "APRIL, a new ligand of the tumor necrosis factor family, stimulates tumor cell growth.", "journal": "J. Exp. Med.", "date": "1998", "authors": "Hahne M, Kataoka T, Schroter M, Hofmann K, Irmler M, Bodmer JL, Schneider P, Bornand T, Holler N, French LE, Sordat B, Rimoldi D, Tschopp J", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "reference": [ { "type": "PubMed", "id": "9743536", "url": "https://glygen.org/publication/PubMed/9743536" } ] }, { "title": "RANK is the essential signaling receptor for osteoclast differentiation factor in osteoclastogenesis.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Nakagawa N, Kinosaki M, Yamaguchi K, Shima N, Yasuda H, Yano K, Morinaga T, Higashio K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "9878548", "url": "https://glygen.org/publication/PubMed/9878548" } ] } ], "pathway": [ { "id": "hsa:8741", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8741", "resource": "KEGG Pathway" }, { "id": "R-HSA-450520", "name": "HuR (ELAVL1) binds and stabilizes mRNA", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-450520", "resource": "Reactome", "description": "HuR (ELAVL1) binds and stabilizes mRNA" }, { "id": "R-HSA-5669034", "name": "TNFs bind their physiological receptors", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034", "resource": "Reactome", "description": "TNFs bind their physiological receptors" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9D777-1", "protein_name": "Tumor necrosis factor ligand superfamily member 13", "gene_name": "Tnfsf13", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPASSPGHMGGSVREPALSVALWLSWGAVLGAVTCAVALLIQQTELQSLRREVSRLQRSGGPSQKQGERPWQSLWEQSPDVLEAWKDGAKSRRRRAVLTQKHKKKHSVLHLVPVNITSKADSDVTEVMWQPVLRRGRGLEAQGDIVRVWDTGIYLLYSQVLFHDVTFTMGQVVSREGQGRRETLFRCIRSMPSDPDRAYNSCYSAGVFHLHQGDIITVKIPRANAKLSLSPHGTFLGFVKL", "length": 241 }, "evidence": [ { "id": "45924051", "url": "http://www.informatics.jax.org/homology/45924051", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "positive regulation of isotype switching to IgA isotypes", "id": "GO:0048298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048298", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor binding", "id": "GO:0005164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005164", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 124, "end_pos": 126, "annotation": "n_glycosylation_sequon" }, { "start_pos": 237, "end_pos": 239, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "The precursor is cleaved by furin.", "evidence": [ { "database": "UniProtKB", "id": "O75888", "url": "https://www.uniprot.org/uniprot/O75888" }, { "database": "PubMed", "id": "11571266", "url": "https://glygen.org/publication/PubMed/11571266" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 124 ], "o_linked_sites": [], "snv_sites": [ 124, 132, 173 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 124, "end_pos": 126 }, { "start_pos": 237, "end_pos": 239 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 15 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 15 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 57 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }