{ "uniprot_canonical_ac": "O75144-1", "uniprot_ac": "O75144", "uniprot_id": "ICOSL_HUMAN", "mass": { "chemical_mass": 33349.0, "monoisotopic_mass": 33349.0 }, "refseq": { "ac": "NP_001269979", "name": "ICOS ligand isoform b precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979" }, "gene_names": [ { "name": "ICOSLG", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75144", "id": "O75144" }, { "name": "B7-H2; B7h; B7H2; B7RP-1; B7RP1; CD275; GL50; ICOS-L; ICOSL; LICOS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979", "id": "NP_001269979" }, { "name": "B7H2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75144", "id": "O75144" }, { "name": "B7RP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75144", "id": "O75144" }, { "name": "ICOSLG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979", "id": "NP_001269979" }, { "name": "ICOSL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75144", "id": "O75144" }, { "name": "KIAA0653", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75144", "id": "O75144" }, { "name": "hCG_401312", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75144", "id": "O75144" } ], "protein_names": [ { "name": "ICOS ligand", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75144" }, { "name": "B7 homolog 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75144" }, { "name": "B7 homologue 2; transmembrane protein B7-H2 ICOS ligand; B7 homolog 2; B7-like protein Gl50; B7-related protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979", "id": "NP_001269979" }, { "name": "B7-H2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75144" }, { "name": "B7-like protein Gl50", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75144" }, { "name": "B7-related protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75144" }, { "name": "B7RP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75144" }, { "name": "ICOS ligand isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979", "id": "NP_001269979" } ], "function": [ { "annotation": "Activated neutrophils polarize protumorigenic interleukin-17A-producing T helper subsets through TNF-alpha-B7-H2-dependent pathway in human gastric cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979" }, { "database": "PubMed", "id": "34185422", "url": "https://glygen.org/publication/PubMed/34185422" } ] }, { "annotation": "Expression and prognosis of inducible T-cell co-stimulator and its ligand in Chinese stage I-III lung adenocarcinoma patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979" }, { "database": "PubMed", "id": "37850501", "url": "https://glygen.org/publication/PubMed/37850501" } ] }, { "annotation": "ICOSLG acts as an oncogene to promote glycolysis, proliferation, migration, and invasion in gastric cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979" }, { "database": "PubMed", "id": "38081339", "url": "https://glygen.org/publication/PubMed/38081339" } ] }, { "annotation": "Ligand for the T-cell-specific cell surface receptor ICOS. Acts as a costimulatory signal for T-cell proliferation and cytokine secretion; induces also B-cell proliferation and differentiation into plasma cells. Could play an important role in mediating local tissue responses to inflammatory conditions, as well as in modulating the secondary immune response by co-stimulating memory T-cell function (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144#function" } ] }, { "annotation": "Mesenchymal stem cells regulate type 2 innate lymphoid cells via regulatory T cells through ICOS-ICOSL interaction.", "evidence": [ { "database": "RefSeq", "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979" }, { "database": "PubMed", "id": "33662168", "url": "https://glygen.org/publication/PubMed/33662168" } ] }, { "annotation": "Role of the co-stimulatory molecule inducible T-cell co-stimulator ligand (ICOSL) in the progression of experimental metabolic dysfunction-associated steatohepatitis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979" }, { "database": "PubMed", "id": "38077334", "url": "https://glygen.org/publication/PubMed/38077334" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs375915753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375915753" }, { "id": "rs375915753", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375915753" }, { "id": "rs375915753", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375915753#frequency_tab" }, { "id": "rs375915753", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375915753" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 104, "end_pos": 104, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVI).", "chr_id": "21", "chr_pos": "44236962", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758856903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758856903" }, { "id": "rs758856903", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758856903" }, { "id": "rs758856903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758856903" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 137, "end_pos": 137, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->KFS).", "chr_id": "21", "chr_pos": "44235558", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1378264110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378264110" }, { "id": "rs1378264110", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378264110" }, { "id": "rs200543297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200543297" }, { "id": "rs200543297", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200543297" }, { "id": "rs200543297", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200543297" }, { "id": "rs200543297", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200543297#frequency_tab" }, { "id": "rs200543297", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200543297" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 139, "end_pos": 139, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->NFR).", "chr_id": "21", "chr_pos": "44235554", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S139", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1296435360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1296435360" }, { "id": "rs1296435360", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1296435360" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 173, "end_pos": 173, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->SKT).", "chr_id": "21", "chr_pos": "44235451", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776339033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776339033" }, { "id": "rs776339033", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776339033" }, { "id": "rs776339033", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776339033#frequency_tab" }, { "id": "rs776339033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776339033" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 175, "end_pos": 175, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->NKM).", "chr_id": "21", "chr_pos": "44235445", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776339033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776339033" }, { "id": "rs776339033", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776339033" }, { "id": "rs776339033", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776339033#frequency_tab" }, { "id": "rs776339033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776339033" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 175, "end_pos": 175, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->NKR).", "chr_id": "21", "chr_pos": "44235445", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75144", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75144" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 186, "end_pos": 186, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NDT->SDT).", "chr_id": "21", "chr_pos": "44235412", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N186", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1268210712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268210712" }, { "id": "rs1268210712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268210712" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 236, "end_pos": 236, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "21", "chr_pos": "44231435", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1214509737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214509737" }, { "id": "rs1214509737", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1214509737#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 255, "end_pos": 255, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "21", "chr_pos": "44231379", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A255", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1462167280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462167280" }, { "id": "rs1462167280", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1462167280" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 72, "end_pos": 72, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSC).", "chr_id": "21", "chr_pos": "44237058", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S72", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs865851162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865851162" }, { "id": "rs865851162", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs865851162" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 95, "end_pos": 95, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "21", "chr_pos": "44236990", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D95", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000277117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000277117" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "64.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000277117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000277117" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000277117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000277117" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "62.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000277117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000277117" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "69.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000277117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000277117" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "63.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000277117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000277117" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "68.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000277117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000277117" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "58.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000277117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000277117" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "71.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000277117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000277117" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "69.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000277117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000277117" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "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": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "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": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "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": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "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": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "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": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "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": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75144", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75144" } ], "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": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "common_name": "Human" } ], "gene": [ { "name": "ICOSLG", "url": "https://www.uniprot.org/uniprot/O75144", "locus": { "chromosome": "21", "start_pos": 44215382, "end_pos": 44241446, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000160223", "url": "https://www.ensembl.org/id/ENSG00000160223" } ] } } ], "crossref": [ { "id": "ENSG00000160223", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160223", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "ENSG00000277117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000277117", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75144", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75144", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd20935", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20935", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3712949", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3712949", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ICOSLG", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ICOSLG", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "102723996", "url": "https://www.ncbi.nlm.nih.gov/gene/102723996", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "23308", "url": "https://www.ncbi.nlm.nih.gov/gene/23308", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "740", "url": "https://glyconnect.expasy.org/browser/proteins/740", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "17087", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17087", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75144", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75144*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013106", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013106", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23308", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23308", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605717", "url": "http://www.omim.org/entry/605717", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75144", "url": "https://www.nextprot.org/entry/NX_O75144", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75144", "url": "https://oglcnac.org/atlas/detail/O75144", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O75144", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75144", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "EHTYKCI", "url": "https://omabrowser.org/oma/group/EHTYKCI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5349267at2759", "url": "http://www.orthodb.org/?query=5349267at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24100", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24100", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24100:SF55", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24100:SF55", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6X4G", "url": "https://www.rcsb.org/structure/6X4G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6X4T", "url": "https://www.rcsb.org/structure/6X4T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF07686", "url": "http://pfam.xfam.org/family/PF07686", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75144", "url": "https://pharos.nih.gov/targets/O75144", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050819", "url": "https://proconsortium.org/app/entry/PR:000050819", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050820", "url": "https://proconsortium.org/app/entry/PR:000050820", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O75144", "url": "http://purl.obolibrary.org/obo/PR_O75144", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-388841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-388841", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75144", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A096LPE5", "url": "https://www.uniprot.org/uniprot/A0A096LPE5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A096LPE5-1", "url": "https://www.uniprot.org/uniprot/A0A096LPE5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y5W7", "url": "https://www.uniprot.org/uniprot/A0A2R8Y5W7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y5W7-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y5W7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQ42", "url": "https://www.uniprot.org/uniprot/A0A8V8TQ42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQ42-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQ42-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQ73", "url": "https://www.uniprot.org/uniprot/A0A8V8TQ73", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQ73-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQ73-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQV9", "url": "https://www.uniprot.org/uniprot/A0A8V8TQV9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQV9-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQV9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQW2", "url": "https://www.uniprot.org/uniprot/A0A8V8TQW2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQW2-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQW2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TR62", "url": "https://www.uniprot.org/uniprot/A0A8V8TR62", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TR62-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TR62-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z1W8", "url": "https://www.uniprot.org/uniprot/B7Z1W8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z1W8-1", "url": "https://www.uniprot.org/uniprot/B7Z1W8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K4DIA0", "url": "https://www.uniprot.org/uniprot/K4DIA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K4DIA0-1", "url": "https://www.uniprot.org/uniprot/K4DIA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75144-1", "url": "https://www.uniprot.org/uniprot/O75144-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75144-2", "url": "https://www.uniprot.org/uniprot/O75144-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75144-3", "url": "https://www.uniprot.org/uniprot/O75144-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRLGSPGLLFLLFSSLRADTQEKEVRAMVGSDVELSCACPEGSRFDLNDVYVYWQTSESKTVVTYHIPQNSSLENVDSRYRNRALMSPAGMLRGDFSLRLFNVTPQDEQKFHCLVLSQSLGFQEVLSVEVTLHVAANFSVPVVSAPHSPSQDELTFTCTSINGYPRPNVYWINKTDNSLLDQALQNDTVFLNMRGLYDVVSVLRIARTPSVNIGCCIENVLLQQNLTVGSQTGNDIGERDKITENPVSTGEKNAATWSILAVLCLLVVVAVAIGWVCRDRCLQHSYAGAWAVSPETELTGHV", "length": 302, "header": "sp|O75144-1|ICOSL_HUMAN Isoform 1 of ICOS ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=2 CANONICAL=O75144-1" }, "isoforms": [ { "isoform_ac": "A0A096LPE5-1", "url": "", "sequence": { "sequence": "MRLGSPGLLFLLFSSLRAEQLLGKRGQPLPEPSPDVTGRHAAGRLLPALVQRHPPGRAEVSLPGVEPIPGIPGGFER", "length": 77, "header": "tr|A0A096LPE5-1|ICOSL_HUMAN Computationally mapped isoform of ICOS ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=1 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44240817, "end_pos": 44236890, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700359.1", "url": "https://www.ensembl.org/id/ENST00000700359.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514961.1", "url": "https://www.ensembl.org/id/ENSP00000514961.1" } ] } }, { "isoform_ac": "A0A2R8Y5W7-1", "url": "", "sequence": { "sequence": "MRLGSPGLLFLLFSSLRADTQEKEVRAMVGSDVELSCACPEGSRFDLNDVYVYWQTSESKTVVTYHIPQNSSLENVDSRYRNRALMSPAGMLRGDFSLRLFNVTPQDEQKFHCLVLSQSLGFQEVLSVEVTLHVAANFSVPVVSAPHSPSQDELTFTCTSINGYPRPNVYWINKTDNSLLDQALQNDTVFLNMRGLYDVVSVLRIARTPSVNIGCCIENVLLQQNLTVGSQTGNDIGERDKITENPVSTGEKNAATWSILAVLCLLVVVAVAIGWVCRDRCLQHSYAGAWAVSPETELTVSRHGFEQTTDVLPFILKSSLGASCEPTAFPLPPAAPGPCAHLFIWMLAECTPCSPVWSSIS", "length": 361, "header": "tr|A0A2R8Y5W7-1|A0A2R8Y5W7_HUMAN Computationally mapped isoform of Inducible T cell costimulator ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=2 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44240817, "end_pos": 44218060, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643466.2", "url": "https://www.ensembl.org/id/ENST00000643466.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000494882.2", "url": "https://www.ensembl.org/id/ENSP00000494882.2" } ] } }, { "isoform_ac": "A0A8V8TQ42-1", "url": "", "sequence": { "sequence": "MRLGSPGLLFLLFSSLRADTQEKEVRAMNSSLENVDSRYRNRALMSPAGMLRGDFSLRLFNVTPQDEQKFHCLVLSQSLGFQEVLSVEVTLHVAANFSVPVVSAPHSPSQDELTFTCTSINGYPRPNVYWINKTDNSLLDQALQNDTVFLNMRGLYDVVSVLRIARTPSVNIGCCIENVLLQQNLTVGSQTGNDIGERDKITENPVSTGEKNAATWSILAVLCLLVVVAVAIGWVCRDRCLQHSYAGAWAVSPETELTGHV", "length": 261, "header": "tr|A0A8V8TQ42-1|A0A8V8TQ42_HUMAN Computationally mapped isoform of Inducible T cell costimulator ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=1 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44240817, "end_pos": 44229037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700352.1", "url": "https://www.ensembl.org/id/ENST00000700352.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514956.1", "url": "https://www.ensembl.org/id/ENSP00000514956.1" } ] } }, { "isoform_ac": "A0A8V8TQ73-1", "url": "", "sequence": { "sequence": "MRLGSPGLLFLLFSSLRADTQEKEVRAMVGSDVELSCACPEGSRFDLNDVYVYWQTSESKTVVTYHIPQNSSLENVDSRYRNRALMSPAGMLRGDFSLRLFNVTPQDEQKFHCLVLSQSLGFQEVLSVEVTLHVAANFSVPVVSAPHSPSQDELTFTCTSINGYPRPNVYWINKTDNSLLDQALQNDTVFLNMRGLYDVVSVLRIARTPSVNIGCCIENVLLQQNLTVGSQTGKVPAPAC", "length": 240, "header": "tr|A0A8V8TQ73-1|A0A8V8TQ73_HUMAN Computationally mapped isoform of Inducible T cell costimulator ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=1 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44240817, "end_pos": 44235249, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700361.1", "url": "https://www.ensembl.org/id/ENST00000700361.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514963.1", "url": "https://www.ensembl.org/id/ENSP00000514963.1" } ] } }, { "isoform_ac": "A0A8V8TQV9-1", "url": "", "sequence": { "sequence": "MRLGSPGLLFLLFSSLRADTQEKEVRAMVGSDVELSCACPEGSRFDLNDVYVYWQTSESKTVVTYHIPQNSSLENVDSRYRNRALMSPAGMLRGDFSLRLFNVTPQDEQKFHCLVLSQSLGFQEVLSVEVTLHVAANFSVPVVSAPHSPSQDELTFTCTSINGYPRPNVYWINKTDNSLLDQALQNDTVFLNMRGLYDVVSVLRIARTPSVNIGCCIENVLLQQNLTVGSQTGNDIGERDKITENPVSTGEKNAATWSILAVLCLLVVVAVAIGWVCRDRCLQHSYAGAWAVSPETELTVPGAT", "length": 304, "header": "tr|A0A8V8TQV9-1|A0A8V8TQV9_HUMAN Computationally mapped isoform of Inducible T cell costimulator ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=1 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44240817, "end_pos": 44229533, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700355.1", "url": "https://www.ensembl.org/id/ENST00000700355.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514957.1", "url": "https://www.ensembl.org/id/ENSP00000514957.1" } ] } }, { "isoform_ac": "A0A8V8TQW2-1", "url": "", "sequence": { "sequence": "MSPAGMLRGDFSLRLFNVTPQDEQKFHCLVLSQSLGFQEVLSVEVTLHVAANFSVPVVSAPHSPSQDELTFTCTSINGYPRPNVYWINKTDNSLLDQALQNDTVFLNMRGLYDVVSVLRIARTPSVNIGCCIENVLLQQNLTVGSQTGNDIGERDKITENPVSTGEKNAATWSILAVLCLLVVVAVAIGWVCRDRCLQHSYAGAWAVSPETELT", "length": 214, "header": "tr|A0A8V8TQW2-1|A0A8V8TQW2_HUMAN Computationally mapped isoform of Inducible T cell costimulator ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=1 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44237017, "end_pos": 44230055, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700360.1", "url": "https://www.ensembl.org/id/ENST00000700360.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514962.1", "url": "https://www.ensembl.org/id/ENSP00000514962.1" } ] } }, { "isoform_ac": "A0A8V8TR62-1", "url": "", "sequence": { "sequence": "MRLGRKARPASLASLAPLHPHASITVFLGICYRES", "length": 35, "header": "tr|A0A8V8TR62-1|A0A8V8TR62_HUMAN Computationally mapped isoform of Inducible T cell costimulator ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=4 SV=1 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44240817, "end_pos": 44238734, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700350.1", "url": "https://www.ensembl.org/id/ENST00000700350.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514955.1", "url": "https://www.ensembl.org/id/ENSP00000514955.1" } ] } }, { "isoform_ac": "B7Z1W8-1", "url": "", "sequence": { "sequence": "MSPAGMLRGDFSLRLFNVTPQDEQKFHCLVLSQSLGFQEVLSVEVTLHVAANFSVPVVSAPHSPSQDELTFTCTSINGYPRPNVYWINKTDNSLLDQALQNDTVFLNMRGLYDVVSVLRIARTPSVNIGCCIENVLLQQNLTVGSQTGNDIGERDKITENPVSTGEKNAATWSILAVLCLLVVVAVAIGWVCRDRCLQHSYAGAWAVSPETELTGHV", "length": 217, "header": "tr|B7Z1W8-1|B7Z1W8_HUMAN Computationally mapped isoform of Inducible T cell costimulator ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=1 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44237017, "end_pos": 44229037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700358.1", "url": "https://www.ensembl.org/id/ENST00000700358.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514960.1", "url": "https://www.ensembl.org/id/ENSP00000514960.1" } ] } }, { "isoform_ac": "K4DIA0-1", "url": "", "sequence": { "sequence": "MRLGSPGLLFLLFSSLRADTQEKEVRAMVGSDVELSCACPEGSRFDLNDVYVYWQTSESKTVVTYHIPQNSSLENVDSRYRNRALMSPAGMLRGDFSLRLFNVTPQDEQKFHCLVLSQSLGFQEVLSVEVTLHVAANFSVPVVSAPHSPSQDELTFTCTSINGYPRPNVYWINKTDNSLLDQALQNDTVFLNMRGLYDVVSVLRIARTPSVNIGCCIENVLLQQNLTVGSQTGNDIGERDKITENPVSTGEKNAATWSILAVLCLLVVVAVAIGWVCRDRCLQHSYAGAWAVSPETELTGEFAVGSSRFWGAQGRLGCQLSFRVSKNFQKAKVPCLEQLLFLETQRSPRWCAWHFLQPPLGMGWHPGVHFVTLRWDFPNMHRSRETSARPPRSPVPSPDQGVQGGSRHRRPAPMGCPEWVQAPAPSPRGVSRAGPGTGAQPLWGVRSGSGHRQLLSVAATPAALVCPSVPGAT", "length": 473, "header": "tr|K4DIA0-1|K4DIA0_HUMAN Computationally mapped isoform of Inducible T-cell co-stimulator ligand, isoform CRA_b OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=1 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44240817, "end_pos": 44229533, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400379.8", "url": "https://www.ensembl.org/id/ENST00000400379.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000383230.3", "url": "https://www.ensembl.org/id/ENSP00000383230.3" } ] } }, { "isoform_ac": "O75144-1", "url": "", "sequence": { "sequence": "MRLGSPGLLFLLFSSLRADTQEKEVRAMVGSDVELSCACPEGSRFDLNDVYVYWQTSESKTVVTYHIPQNSSLENVDSRYRNRALMSPAGMLRGDFSLRLFNVTPQDEQKFHCLVLSQSLGFQEVLSVEVTLHVAANFSVPVVSAPHSPSQDELTFTCTSINGYPRPNVYWINKTDNSLLDQALQNDTVFLNMRGLYDVVSVLRIARTPSVNIGCCIENVLLQQNLTVGSQTGNDIGERDKITENPVSTGEKNAATWSILAVLCLLVVVAVAIGWVCRDRCLQHSYAGAWAVSPETELTGHV", "length": 302, "header": "sp|O75144-1|ICOSL_HUMAN Isoform 1 of ICOS ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=2 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44240817, "end_pos": 44229037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407780.8", "url": "https://www.ensembl.org/id/ENST00000407780.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000384432.3", "url": "https://www.ensembl.org/id/ENSP00000384432.3" } ] } }, { "isoform_ac": "O75144-2", "url": "", "sequence": { "sequence": "MRLGSPGLLFLLFSSLRADTQEKEVRAMVGSDVELSCACPEGSRFDLNDVYVYWQTSESKTVVTYHIPQNSSLENVDSRYRNRALMSPAGMLRGDFSLRLFNVTPQDEQKFHCLVLSQSLGFQEVLSVEVTLHVAANFSVPVVSAPHSPSQDELTFTCTSINGYPRPNVYWINKTDNSLLDQALQNDTVFLNMRGLYDVVSVLRIARTPSVNIGCCIENVLLQQNLTVGSQTGNDIGERDKITENPVSTGEKNAATWSILAVLCLLVVVAVAIGWVCRDRCLQHSYAGAWAVSPETELTESWNLLLLLS", "length": 309, "header": "sp|O75144-2|ICOSL_HUMAN Isoform 2 of ICOS ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=2 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44240817, "end_pos": 44223050, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000344330.9", "url": "https://www.ensembl.org/id/ENST00000344330.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000339477.4", "url": "https://www.ensembl.org/id/ENSP00000339477.4" } ] } }, { "isoform_ac": "O75144-3", "url": "", "sequence": { "sequence": "MRLGSPGLLFLLFSSLRAANFSVPVVSAPHSPSQDELTFTCTSINGYPRPNVYWINKTDNSLLDQALQNDTVFLNMRGLYDVVSVLRIARTPSVNIGCCIENVLLQQNLTVGSQTGNDIGERDKITENPVSTGEKNAATWSILAVLCLLVVVAVAIGWVCRDRCLQHSYAGAWAVSPETELTGHV", "length": 185, "header": "sp|O75144-3|ICOSL_HUMAN Isoform 3 of ICOS ligand OS=Homo sapiens OX=9606 GN=ICOSLG PE=1 SV=2 CANONICAL=O75144-1" }, "locus": { "chromosome": "21", "start_pos": 44240817, "end_pos": 44229037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400377.4", "url": "https://www.ensembl.org/id/ENST00000400377.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000383228.3", "url": "https://www.ensembl.org/id/ENSP00000383228.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G37773JL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 102, "start_aa": "Asn", "end_pos": 102, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn102", "evidence": [ { "id": "740", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/740" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 102, "start_aa": "Asn", "end_pos": 102, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn102", "evidence": [ { "id": "740", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/740" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 102, "start_aa": "Asn", "end_pos": 102, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn102", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "id": "O75144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75144#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "O75144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75144#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 186, "start_aa": "Asn", "end_pos": 186, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn186", "evidence": [ { "id": "O75144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75144#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G53046BR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 225, "start_aa": "Asn", "end_pos": 225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "740", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/740" }, { "id": "23345538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "glytoucan_ac": "G60743GT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 225, "start_aa": "Asn", "end_pos": 225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "O75144", "database": "UniCarbKB", "url": "" }, { "id": "23345538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "glytoucan_ac": "G81375TC", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 225, "start_aa": "Asn", "end_pos": 225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "740", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/740" }, { "id": "23345538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "glytoucan_ac": "G87139BK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 225, "start_aa": "Asn", "end_pos": 225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "O75144", "database": "UniCarbKB", "url": "" }, { "id": "23345538", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 225, "start_aa": "Asn", "end_pos": 225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "O75144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75144#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 243, "start_aa": "Thr", "end_pos": 243, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr243", "evidence": [ { "id": "O75144", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75144" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 249, "start_aa": "Thr", "end_pos": 249, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr249", "evidence": [ { "id": "O75144", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75144" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "glytoucan_ac": "G47518TP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 70, "start_aa": "Asn", "end_pos": 70, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn70", "evidence": [ { "id": "740", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/740" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 70, "start_aa": "Asn", "end_pos": 70, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn70", "evidence": [ { "id": "O75144", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75144#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75144", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75144" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Identification of GL50, a novel B7-like protein that functionally binds to ICOS receptor.", "journal": "J. Immunol.", "date": "2000", "authors": "Ling V, Wu P W, Finnerty H F, Bean K M, Spaulding V, Fouser L A, Leonard J P, Hunter S E, Zollner R, Thomas J L, Miyashiro J S, Jacobs K A, Collins M", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "reference": [ { "type": "PubMed", "id": "10657606", "url": "https://glygen.org/publication/PubMed/10657606" } ] }, { "title": "Characterization of human inducible costimulator ligand expression and function.", "journal": "J. Immunol.", "date": "2000", "authors": "Aicher A, Hayden-Ledbetter M, Brady WA, Pezzutto A, Richter G, Magaletti D, Buckwalter S, Ledbetter JA, Clark EA", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "reference": [ { "type": "PubMed", "id": "10779774", "url": "https://glygen.org/publication/PubMed/10779774" } ] }, { "title": "Characterization of a new human B7-related protein: B7RP-1 is the ligand to the co-stimulatory protein ICOS.", "journal": "Int. Immunol.", "date": "2000", "authors": "Yoshinaga SK, Zhang M, Pistillo J, Horan T, Khare SD, Miner K, Sonnenberg M, Boone T, Brankow D, Dai T, Delaney J, Han H, Hui A, Kohno T, Manoukian R, Whoriskey JS, Coccia MA", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "reference": [ { "type": "PubMed", "id": "11007762", "url": "https://glygen.org/publication/PubMed/11007762" } ] }, { "title": "Costimulation of T cells by B7-H2, a B7-like molecule that binds ICOS.", "journal": "Blood", "date": "2000", "authors": "Wang S, Zhu G, Chapoval A I, Dong H, Tamada K, Ni J, Chen L", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "reference": [ { "type": "PubMed", "id": "11023515", "url": "https://glygen.org/publication/PubMed/11023515" } ] }, { "title": "A single amino acid alteration in cytoplasmic domain determines IL-2 promoter activation by ligation of CD28 but not inducible costimulator (ICOS).", "journal": "The Journal of experimental medicine", "date": "2003", "authors": "Harada Y, Ohgai D, Watanabe R, Okano K, Koiwai O, Tanabe K, Toma H, Altman A, Abe R", "evidence": [ { "database": "Reactome", "id": "R-HSA-388841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-388841" } ], "reference": [ { "type": "PubMed", "id": "12538664", "url": "https://glygen.org/publication/PubMed/12538664" } ] }, { "title": "BTLA is a lymphocyte inhibitory receptor with similarities to CTLA-4 and PD-1.", "journal": "Nature immunology", "date": "2003", "authors": "Watanabe N, Gavrieli M, Sedy JR, Yang J, Fallarino F, Loftin SK, Hurchla MA, Zimmerman N, Sim J, Zang X, Murphy TL, Russell JH, Allison JP, Murphy KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-388841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-388841" } ], "reference": [ { "type": "PubMed", "id": "12796776", "url": "https://glygen.org/publication/PubMed/12796776" } ] }, { "title": "ICOS: a new costimulatory ligand/receptor pair and its role in T-cell activion.", "journal": "Onkologie", "date": "2004", "authors": "Richter G, Burdach S", "evidence": [ { "database": "Reactome", "id": "R-HSA-388841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-388841" } ], "reference": [ { "type": "PubMed", "id": "15007255", "url": "https://glygen.org/publication/PubMed/15007255" } ] }, { "title": "B and T lymphocyte attenuator regulates T cell activation through interaction with herpesvirus entry mediator.", "journal": "Nature immunology", "date": "2005", "authors": "Sedy JR, Gavrieli M, Potter KG, Hurchla MA, Lindsley RC, Hildner K, Scheu S, Pfeffer K, Ware CF, Murphy TL, Murphy KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-388841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-388841" } ], "reference": [ { "type": "PubMed", "id": "15568026", "url": "https://glygen.org/publication/PubMed/15568026" } ] }, { "title": "Regulation of immune and autoimmune responses by ICOS-B7h interaction.", "journal": "Clinical immunology (Orlando, Fla.)", "date": "2005", "authors": "Nurieva RI", "evidence": [ { "database": "Reactome", "id": "R-HSA-388841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-388841" } ], "reference": [ { "type": "PubMed", "id": "15870016", "url": "https://glygen.org/publication/PubMed/15870016" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144#ptm_processing" }, { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Balancing co-stimulation and inhibition with BTLA and HVEM.", "journal": "Nature reviews. Immunology", "date": "2006", "authors": "Murphy KM, Nelson CA, Sedy JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-388841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-388841" } ], "reference": [ { "type": "PubMed", "id": "16932752", "url": "https://glygen.org/publication/PubMed/16932752" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Glycoproteomic analysis of the secretome of human endothelial cells.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Yin X, Bern M, Xing Q, Ho J, Viner R, Mayr M", "evidence": [ { "database": "UniCarbKB", "id": "O75144", "url": "" }, { "database": "GlyConnect", "id": "740", "url": "https://glyconnect.expasy.org/browser/proteins/740" } ], "reference": [ { "type": "PubMed", "id": "23345538", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Structural basis for cancer immunotherapy by the first-in-class checkpoint inhibitor ipilimumab.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2017", "authors": "Ramagopal UA, Liu W, Garrett-Thomson SC, Bonanno JB, Yan Q, Srinivasan M, Wong SC, Bell A, Mankikar S, Rangan VS, Deshpande S, Korman AJ, Almo SC", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "reference": [ { "type": "PubMed", "id": "28484017", "url": "https://glygen.org/publication/PubMed/28484017" } ] }, { "title": "Distinct urinary glycoprotein signatures in prostate cancer patients.", "journal": "Oncotarget", "date": "2018", "authors": "Kawahara R, Ortega F, Rosa-Fernandes L, Guimaraes V, Quina D, Nahas W, Schwammle V, Srougi M, Leite KRM, Thaysen-Andersen M, Larsen MR, Palmisano G", "evidence": [ { "database": "GlyConnect", "id": "740", "url": "https://glyconnect.expasy.org/browser/proteins/740" } ], "reference": [ { "type": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75144", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75144" }, { "database": "O-GlcNAc Atlas", "id": "O75144", "url": "https://oglcnac.org/atlas/detail/O75144" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Mesenchymal stem cells regulate type 2 innate lymphoid cells via regulatory T cells through ICOS-ICOSL interaction.", "journal": "Stem cells (Dayton, Ohio)", "date": "2021", "authors": "Fan X, Xu ZB, Li CL, Zhang HY, Peng YQ, He BX, Liu XQ, Chen DH, Chen D, Akdis CA, Fu QL", "evidence": [ { "database": "RefSeq", "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979" } ], "reference": [ { "type": "PubMed", "id": "33662168", "url": "https://glygen.org/publication/PubMed/33662168" } ] }, { "title": "Activated neutrophils polarize protumorigenic interleukin-17A-producing T helper subsets through TNF-alpha-B7-H2-dependent pathway in human gastric cancer.", "journal": "Clinical and translational medicine", "date": "2021", "authors": "Shan ZG, Chen J, Liu JS, Zhang JY, Wang TT, Teng YS, Mao FY, Cheng P, Zou QM, Zhou WY, Peng LS, Zhao YL, Zhuang Y", "evidence": [ { "database": "RefSeq", "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979" } ], "reference": [ { "type": "PubMed", "id": "34185422", "url": "https://glygen.org/publication/PubMed/34185422" } ] }, { "title": "Expression and prognosis of inducible T-cell co-stimulator and its ligand in Chinese stage I-III lung adenocarcinoma patients.", "journal": "Animal models and experimental medicine", "date": "2023-10", "authors": "Zhan Xiao-Kai, Liu Xi-Kun, Zhang Sen, Chen Hong", "evidence": [ { "database": "RefSeq", "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979" } ], "reference": [ { "type": "PubMed", "id": "37850501", "url": "https://glygen.org/publication/PubMed/37850501" } ] }, { "title": "Role of the co-stimulatory molecule inducible T-cell co-stimulator ligand (ICOSL) in the progression of experimental metabolic dysfunction-associated steatohepatitis.", "journal": "Frontiers in immunology", "date": "2023", "authors": "Provera Alessia, Ramavath Naresh Naik, Gadipudi Laila Lavanya, Gigliotti Casimiro Luca, Boggio Elena, Vecchio Cristina, Stoppa Ian, Rolla Roberta, Boldorini Renzo, Pirisi Mario, Smirne Carlo, Albano Emanuele, Dianzani Umberto, Sutti Salvatore", "evidence": [ { "database": "RefSeq", "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979" } ], "reference": [ { "type": "PubMed", "id": "38077334", "url": "https://glygen.org/publication/PubMed/38077334" } ] }, { "title": "ICOSLG acts as an oncogene to promote glycolysis, proliferation, migration, and invasion in gastric cancer cells.", "journal": "Archives of biochemistry and biophysics", "date": "2023-12-09", "authors": "Zhang Li, Gao Yunge", "evidence": [ { "database": "RefSeq", "id": "NP_001269979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269979" } ], "reference": [ { "type": "PubMed", "id": "38081339", "url": "https://glygen.org/publication/PubMed/38081339" } ] } ], "pathway": [ { "id": "hsa:23308", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23308", "resource": "KEGG Pathway" }, { "id": "R-HSA-388841", "name": "Costimulation by the CD28 family", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-388841", "resource": "Reactome", "description": "Costimulation by the CD28 family" } ], "orthologs": [ { "uniprot_canonical_ac": "F1LVL2-1", "protein_name": "Inducible T-cell co-stimulator ligand", "gene_name": "Icoslg", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MQLNRFFSGPGLFLLLFCSLCVEAEVKEVNAMVGSDVELRCVYPRRSHFSLDDLYVYWQIVDEAKTVVTYYLPSANESSTIHVSNSYKNRAHLSPDLMKEGDFSLHLQNVTPQDTQEFKCLVFRMSTVLGKALEEVVRLRVAANFSTPVISTSGSSDPGQERTFTCMSKNGYPEPNLYWINRTDNTLIDETLQNNTVYLNELGLYDVVSTLRIPWTPHVDVICCVENVALHQNITSISRADSFTGSMNTERPQEIHREATKVLFYVLAALLAVVVVIFIIVLYRCRRRPCQSYTGPRAVQLELTGLVTEDNELSAYVL", "length": 318 }, "evidence": [ { "id": "45934060", "url": "http://www.informatics.jax.org/homology/45934060", "database": "MGI" }, { "id": "O75144", "url": "https://omabrowser.org/oma/group/O75144/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9JHJ8-1", "protein_name": "ICOS ligand", "gene_name": "Icoslg", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MQLKCPCFVSLGTRQPVWKKLHVSSGFFSGLGLFLLLLSSLCAASAETEVGAMVGSNVVLSCIDPHRRHFNLSGLYVYWQIENPEVSVTYYLPYKSPGINVDSSYKNRGHLSLDSMKQGNFSLYLKNVTPQDTQEFTCRVFMNTATELVKILEEVVRLRVAANFSTPVISTSDSSNPGQERTYTCMSKNGYPEPNLYWINTTDNSLIDTALQNNTVYLNKLGLYDVISTLRLPWTSRGDVLCCVENVALHQNITSISQAESFTGNNTKNPQETHNNELKVLVPVLAVLAAAAFVSFIIYRRTRPHRSYTGPKTVQLELTDHA", "length": 322 }, "evidence": [ { "id": "45934060", "url": "http://www.informatics.jax.org/homology/45934060", "database": "MGI" }, { "id": "O75144", "url": "https://omabrowser.org/oma/group/O75144/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "B cell activation", "id": "GO:0042113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" }, { "name": "hyperosmotic response", "id": "GO:0006972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006972", "evidence": [ { "database": "UniProtKB", "id": "O75144", "url": "https://www.uniprot.org/uniprot/O75144" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "ICOS ligand N-glycosylated 1 (human)", "definition": "An ICOS ligand (human) that has been N-glycosylated at the residue equivalent to Asn-225 of the amino acid sequence represented by UniProtKB:O75144-1, in which the glycan composition is represented by GlyTouCan:G60743GT. Example: UniProtKB:O75144-1, Asn-225, MOD:00160~GNO:G60743GT. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000050819", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050819" } ] }, { "name": "ICOS ligand N-glycosylated 2 (human)", "definition": "An ICOS ligand (human) that has been N-glycosylated at the residue equivalent to Asn-225 of the amino acid sequence represented by UniProtKB:O75144-1, in which the glycan composition is represented by GlyTouCan:G87139BK. Example: UniProtKB:O75144-1, Asn-225, MOD:00160~GNO:G87139BK. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000050820", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050820" } ] } ], "site_annotation": [ { "start_pos": 102, "end_pos": 104, "annotation": "n_glycosylation_sequon" }, { "start_pos": 137, "end_pos": 139, "annotation": "n_glycosylation_sequon" }, { "start_pos": 173, "end_pos": 175, "annotation": "n_glycosylation_sequon" }, { "start_pos": 186, "end_pos": 188, "annotation": "n_glycosylation_sequon" }, { "start_pos": 225, "end_pos": 227, "annotation": "n_glycosylation_sequon" }, { "start_pos": 70, "end_pos": 72, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 70, 102, 137, 173, 186, 225 ], "o_linked_sites": [ 243, 249 ], "snv_sites": [ 72, 95, 104, 137, 139, 173, 175, 186, 236, 255 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 102, "end_pos": 104 }, { "start_pos": 137, "end_pos": 139 }, { "start_pos": 173, "end_pos": 175 }, { "start_pos": 186, "end_pos": 188 }, { "start_pos": 225, "end_pos": 227 }, { "start_pos": 70, "end_pos": 72 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 9 }, { "field": "n_linked_glycans", "count": 7 }, { "field": "n_linked_glycan_sites", "count": 9 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "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": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "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": 10 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 7 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 22 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }