{ "uniprot_canonical_ac": "Q8IZJ1-1", "uniprot_ac": "Q8IZJ1", "uniprot_id": "UNC5B_HUMAN", "mass": { "chemical_mass": 103638.0, "monoisotopic_mass": 103638.0 }, "refseq": { "ac": "NP_001231818", "name": "netrin receptor UNC5B isoform 2 precursor", "summary": "This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" }, "gene_names": [ { "name": "UNC5B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8IZJ1", "id": "Q8IZJ1" }, { "name": "P53RDL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IZJ1", "id": "Q8IZJ1" }, { "name": "PRO4326", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IZJ1", "id": "Q8IZJ1" }, { "name": "UNC5B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818", "id": "NP_001231818" }, { "name": "UNC5H2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IZJ1", "id": "Q8IZJ1" }, { "name": "p53RDL1; UNC5H2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818", "id": "NP_001231818" } ], "protein_names": [ { "name": "Netrin receptor UNC5B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8IZJ1" }, { "name": "Protein unc-5 homolog 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IZJ1" }, { "name": "Protein unc-5 homolog B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IZJ1" }, { "name": "netrin receptor UNC5B isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818", "id": "NP_001231818" }, { "name": "p53-regulated receptor for death and life protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IZJ1" }, { "name": "p53RDL1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IZJ1" }, { "name": "transmembrane receptor Unc5H2; netrin receptor UNC5B; unc-5 homolog 2; protein unc-5 homolog B; p53-regulated receptor for death and life protein 1; protein unc-5 homolog 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818", "id": "NP_001231818" } ], "function": [ { "annotation": "A ligand-insensitive UNC5B splicing isoform regulates angiogenesis by promoting apoptosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" }, { "database": "PubMed", "id": "34381052", "url": "https://glygen.org/publication/PubMed/34381052" } ] }, { "annotation": "Delta40p53 isoform up-regulates netrin-1/UNC5B expression and potentiates netrin-1 pro-oncogenic activity.", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" }, { "database": "PubMed", "id": "34470826", "url": "https://glygen.org/publication/PubMed/34470826" } ] }, { "annotation": "Long non-coding RNA PITPNA-AS1 regulates UNC5B expression in papillary thyroid cancer via sponging miR-129-5p.", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" }, { "database": "PubMed", "id": "33706585", "url": "https://glygen.org/publication/PubMed/33706585" } ] }, { "annotation": "May represent tumor suppressor that inhibit tumor extension outside the region of netrin-1 availability by inducing apoptosis", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" }, { "database": "PubMed", "id": "12655055", "url": "https://glygen.org/publication/PubMed/12655055" } ] }, { "annotation": "Modulation of G(ialpha(2)) signaling by the axonal guidance of this protein", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" }, { "database": "PubMed", "id": "12359238", "url": "https://glygen.org/publication/PubMed/12359238" } ] }, { "annotation": "Netrin-1 induces the anti-apoptotic and pro-survival effects of B-ALL cells through the Unc5b-MAPK axis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" }, { "database": "PubMed", "id": "35974411", "url": "https://glygen.org/publication/PubMed/35974411" } ] }, { "annotation": "Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. Axon repulsion in growth cones may be caused by its association with DCC that may trigger signaling for repulsion (By similarity). Functions as netrin receptor that negatively regulates vascular branching during angiogenesis. Mediates retraction of tip cell filopodia on endothelial growth cones in response to netrin (By similarity). It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand (PubMed:12598906). Mediates apoptosis by activating DAPK1. In the absence of NTN1, activates DAPK1 by reducing its autoinhibitory phosphorylation at Ser-308 thereby increasing its catalytic activity (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1#function" }, { "database": "UniProtKB", "id": "Q8K1S3", "url": "https://www.uniprot.org/uniprot/Q8K1S3#function" }, { "database": "UniProtKB", "id": "O08722", "url": "https://www.uniprot.org/uniprot/O08722#function" }, { "database": "PubMed", "id": "12598906", "url": "https://glygen.org/publication/PubMed/12598906" } ] }, { "annotation": "This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" } ] }, { "annotation": "UNC5B Promotes Vascular Endothelial Cell Senescence via the ROS-Mediated P53 Pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" }, { "database": "PubMed", "id": "34239689", "url": "https://glygen.org/publication/PubMed/34239689" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs780422821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780422821" }, { "id": "rs780422821", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780422821" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 222, "end_pos": 222, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->IYT).", "chr_id": "10", "chr_pos": "71286801", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8IZJ1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8IZJ1" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 224, "end_pos": 224, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NYT->NYI).", "chr_id": "10", "chr_pos": "71286807", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T224", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1589195040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1589195040" }, { "id": "rs1589195040", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1589195040" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 224, "end_pos": 224, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->NYP).", "chr_id": "10", "chr_pos": "71286806", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775394233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775394233" }, { "id": "rs775394233", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775394233" }, { "id": "rs775394233", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775394233#frequency_tab" }, { "id": "rs775394233", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775394233" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 248, "end_pos": 248, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGG->NGS).", "chr_id": "10", "chr_pos": "71287606", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G248", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779830658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779830658" }, { "id": "rs779830658", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779830658" }, { "id": "rs779830658", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779830658" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 268, "end_pos": 268, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KRT->NRT).", "chr_id": "10", "chr_pos": "71287668", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K268", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763080232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763080232" }, { "id": "rs763080232", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763080232" }, { "id": "rs763080232", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763080232#frequency_tab" }, { "id": "rs763080232", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763080232" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 270, "end_pos": 270, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TRT->NRT).", "chr_id": "10", "chr_pos": "71287673", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T270", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1411347374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411347374" }, { "id": "rs1411347374", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411347374" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 349, "end_pos": 349, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCA).", "chr_id": "10", "chr_pos": "71288711", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139601435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139601435" }, { "id": "rs139601435", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139601435" }, { "id": "rs139601435", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139601435#frequency_tab" }, { "id": "rs139601435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139601435" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 404, "end_pos": 404, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCR->NCS).", "chr_id": "10", "chr_pos": "71291025", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1413214909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413214909" }, { "id": "rs1413214909", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413214909" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 411, "end_pos": 411, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TDS->NDS).", "chr_id": "10", "chr_pos": "71291047", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376352556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376352556" }, { "id": "rs376352556", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376352556" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 412, "end_pos": 412, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "10", "chr_pos": "71291049", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D412", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754862080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754862080" }, { "id": "rs754862080", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754862080" }, { "id": "rs754862080", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754862080" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 461, "end_pos": 461, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "10", "chr_pos": "71291518", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767423548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767423548" }, { "id": "rs767423548", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767423548" }, { "id": "rs767423548", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767423548" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 472, "end_pos": 472, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "10", "chr_pos": "71291551", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P472", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1362081240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1362081240" }, { "id": "rs1362081240", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1362081240#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 546, "end_pos": 546, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGT->NGT).", "chr_id": "10", "chr_pos": "71291774", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S546", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382998026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382998026" }, { "id": "rs1382998026", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382998026" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 660, "end_pos": 660, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "10", "chr_pos": "71293736", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P660", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1589206538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1589206538" }, { "id": "rs1589206538", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1589206538" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 748, "end_pos": 748, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KDS->NDS).", "chr_id": "10", "chr_pos": "71295879", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K748", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 412, "end_pos": 412, "sequence_org": "D", "sequence_mut": "N", "comment": "Abolishes cleavage by caspase-3 and subsequent induction of apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" }, { "database": "PubMed", "id": "12598906", "url": "https://glygen.org/publication/PubMed/12598906" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "85.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "71.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "77.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "66.79", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "69.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "67.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "68.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "70.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "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": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "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": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "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": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "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": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IZJ1" } ], "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": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "common_name": "Human" } ], "gene": [ { "name": "UNC5B", "url": "https://www.uniprot.org/uniprot/Q8IZJ1", "locus": { "chromosome": "10", "start_pos": 71302864, "end_pos": 71212570, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000107731", "url": "https://www.ensembl.org/id/ENSG00000107731" } ] } } ], "crossref": [ { "id": "ENSG00000107731", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107731", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q8IZJ1", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8IZJ1", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd08802", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08802", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "UNC5B", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "219699", "url": "https://www.ncbi.nlm.nih.gov/gene/219699", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "12568", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12568", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q8IZJ1", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q8IZJ1*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000488", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000488", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000884", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000884", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000906", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000906", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003598", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003598", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "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": "IPR011029", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011029", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013098", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013098", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033772", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033772", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036383", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036383", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037936", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037936", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042156", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042156", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:219699", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:219699", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "607870", "url": "http://www.omim.org/entry/607870", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q8IZJ1", "url": "https://www.nextprot.org/entry/NX_Q8IZJ1", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "CMQNKRF", "url": "https://omabrowser.org/oma/group/CMQNKRF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2971005at2759", "url": "http://www.orthodb.org/?query=2971005at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12582", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12582", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12582:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12582:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00090", "url": "http://pfam.xfam.org/family/PF00090", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00531", "url": "http://pfam.xfam.org/family/PF00531", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00791", "url": "http://pfam.xfam.org/family/PF00791", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07679", "url": "http://pfam.xfam.org/family/PF07679", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17217", "url": "http://pfam.xfam.org/family/PF17217", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q8IZJ1", "url": "https://pharos.nih.gov/targets/Q8IZJ1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000057649", "url": "https://proconsortium.org/app/entry/PR:000057649", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_Q8IZJ1", "url": "http://purl.obolibrary.org/obo/PR_Q8IZJ1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-373752", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373752", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-418886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418886", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-418889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418889", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q8IZJ1", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IZJ1-1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IZJ1-2", "url": "https://www.uniprot.org/uniprot/Q8IZJ1-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGARSGARGALLLALLLCWDPRLSQAGTDSGSEVLPDSFPSAPAEPLPYFLQEPQDAYIVKNKPVELRCRAFPATQIYFKCNGEWVSQNDHVTQEGLDEATGLRVREVQIEVSRQQVEELFGLEDYWCQCVAWSSAGTTKSRRAYVRIAYLRKNFDQEPLGKEVPLDHEVLLQCRPPEGVPVAEVEWLKNEDVIDPTQDTNFLLTIDHNLIIRQARLSDTANYTCVAKNIVAKRRSTTATVIVYVNGGWSSWAEWSPCSNRCGRGWQKRTRTCTNPAPLNGGAFCEGQAFQKTACTTICPVDGAWTEWSKWSACSTECAHWRSRECMAPPPQNGGRDCSGTLLDSKNCTDGLCMQNKKTLSDPNSHLLEASGDAALYAGLVVAIFVVVAILMAVGVVVYRRNCRDFDTDITDSSAALTGGFHPVNFKTARPSNPQLLHPSVPPDLTASAGIYRGPVYALQDSTDKIPMTNSPLLDPLPSLKVKVYSSSTTGSGPGLADGADLLGVLPPGTYPSDFARDTHFLHLRSASLGSQQLLGLPRDPGSSVSGTFGCLGGRLSIPGTGVSLLVPNGAIPQGKFYEMYLLINKAESTLPLSEGTQTVLSPSVTCGPTGLLLCRPVILTMPHCAEVSARDWIFQLKTQAHQGHWEEVVTLDEETLNTPCYCQLEPRACHILLDQLGTYVFTGESYSRSAVKRLQLAVFAPALCTSLEYSLRVYCLEDTPVALKEVLELERTLGGYLVEEPKPLMFKDSYHNLRLSLHDLPHAHWRSKLLAKYQEIPFYHIWSGSQKALHCTFTLERHSLASTELTCKICVRQVEGEGQIFQLHTTLAETPAGSLDTLCSAPGSTVTTQLGPYAFKIPLSIRQKICNSLDAPNSRGNDWRMLAQKLSMDRYLNYFATKASPTGVILDLWEALQQDDGDLNSLASALEEMGKSEMLVAVATDGDC", "length": 945, "header": "sp|Q8IZJ1-1|UNC5B_HUMAN Isoform 1 of Netrin receptor UNC5B OS=Homo sapiens OX=9606 GN=UNC5B PE=1 SV=2 CANONICAL=Q8IZJ1-1" }, "isoforms": [ { "isoform_ac": "Q8IZJ1-1", "url": "", "sequence": { "sequence": "MGARSGARGALLLALLLCWDPRLSQAGTDSGSEVLPDSFPSAPAEPLPYFLQEPQDAYIVKNKPVELRCRAFPATQIYFKCNGEWVSQNDHVTQEGLDEATGLRVREVQIEVSRQQVEELFGLEDYWCQCVAWSSAGTTKSRRAYVRIAYLRKNFDQEPLGKEVPLDHEVLLQCRPPEGVPVAEVEWLKNEDVIDPTQDTNFLLTIDHNLIIRQARLSDTANYTCVAKNIVAKRRSTTATVIVYVNGGWSSWAEWSPCSNRCGRGWQKRTRTCTNPAPLNGGAFCEGQAFQKTACTTICPVDGAWTEWSKWSACSTECAHWRSRECMAPPPQNGGRDCSGTLLDSKNCTDGLCMQNKKTLSDPNSHLLEASGDAALYAGLVVAIFVVVAILMAVGVVVYRRNCRDFDTDITDSSAALTGGFHPVNFKTARPSNPQLLHPSVPPDLTASAGIYRGPVYALQDSTDKIPMTNSPLLDPLPSLKVKVYSSSTTGSGPGLADGADLLGVLPPGTYPSDFARDTHFLHLRSASLGSQQLLGLPRDPGSSVSGTFGCLGGRLSIPGTGVSLLVPNGAIPQGKFYEMYLLINKAESTLPLSEGTQTVLSPSVTCGPTGLLLCRPVILTMPHCAEVSARDWIFQLKTQAHQGHWEEVVTLDEETLNTPCYCQLEPRACHILLDQLGTYVFTGESYSRSAVKRLQLAVFAPALCTSLEYSLRVYCLEDTPVALKEVLELERTLGGYLVEEPKPLMFKDSYHNLRLSLHDLPHAHWRSKLLAKYQEIPFYHIWSGSQKALHCTFTLERHSLASTELTCKICVRQVEGEGQIFQLHTTLAETPAGSLDTLCSAPGSTVTTQLGPYAFKIPLSIRQKICNSLDAPNSRGNDWRMLAQKLSMDRYLNYFATKASPTGVILDLWEALQQDDGDLNSLASALEEMGKSEMLVAVATDGDC", "length": 945, "header": "sp|Q8IZJ1-1|UNC5B_HUMAN Isoform 1 of Netrin receptor UNC5B OS=Homo sapiens OX=9606 GN=UNC5B PE=1 SV=2 CANONICAL=Q8IZJ1-1" }, "locus": { "chromosome": "10", "start_pos": 71299274, "end_pos": 71212986, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000335350.10", "url": "https://www.ensembl.org/id/ENST00000335350.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000334329.6", "url": "https://www.ensembl.org/id/ENSP00000334329.6" } ] } }, { "isoform_ac": "Q8IZJ1-2", "url": "", "sequence": { "sequence": "MGARSGARGALLLALLLCWDPRLSQAGTDSGSEVLPDSFPSAPAEPLPYFLQEPQDAYIVKNKPVELRCRAFPATQIYFKCNGEWVSQNDHVTQEGLDEATGLRVREVQIEVSRQQVEELFGLEDYWCQCVAWSSAGTTKSRRAYVRIAYLRKNFDQEPLGKEVPLDHEVLLQCRPPEGVPVAEVEWLKNEDVIDPTQDTNFLLTIDHNLIIRQARLSDTANYTCVAKNIVAKRRSTTATVIVYVNGGWSSWAEWSPCSNRCGRGWQKRTRTCTNPAPLNGGAFCEGQAFQKTACTTICPVDGAWTEWSKWSACSTECAHWRSRECMAPPPQNGGRDCSGTLLDSKNCTDGLCMQMLEASGDAALYAGLVVAIFVVVAILMAVGVVVYRRNCRDFDTDITDSSAALTGGFHPVNFKTARPSNPQLLHPSVPPDLTASAGIYRGPVYALQDSTDKIPMTNSPLLDPLPSLKVKVYSSSTTGSGPGLADGADLLGVLPPGTYPSDFARDTHFLHLRSASLGSQQLLGLPRDPGSSVSGTFGCLGGRLSIPGTGVSLLVPNGAIPQGKFYEMYLLINKAESTLPLSEGTQTVLSPSVTCGPTGLLLCRPVILTMPHCAEVSARDWIFQLKTQAHQGHWEEVVTLDEETLNTPCYCQLEPRACHILLDQLGTYVFTGESYSRSAVKRLQLAVFAPALCTSLEYSLRVYCLEDTPVALKEVLELERTLGGYLVEEPKPLMFKDSYHNLRLSLHDLPHAHWRSKLLAKYQEIPFYHIWSGSQKALHCTFTLERHSLASTELTCKICVRQVEGEGQIFQLHTTLAETPAGSLDTLCSAPGSTVTTQLGPYAFKIPLSIRQKICNSLDAPNSRGNDWRMLAQKLSMDRYLNYFATKASPTGVILDLWEALQQDDGDLNSLASALEEMGKSEMLVAVATDGDC", "length": 934, "header": "sp|Q8IZJ1-2|UNC5B_HUMAN Isoform 2 of Netrin receptor UNC5B OS=Homo sapiens OX=9606 GN=UNC5B PE=1 SV=2 CANONICAL=Q8IZJ1-1" }, "locus": { "chromosome": "10", "start_pos": 71299274, "end_pos": 71212986, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373192.4", "url": "https://www.ensembl.org/id/ENST00000373192.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000362288.4", "url": "https://www.ensembl.org/id/ENSP00000362288.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 222, "start_aa": "Asn", "end_pos": 222, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn222", "evidence": [ { "id": "Q8IZJ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IZJ1#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": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 347, "start_aa": "Asn", "end_pos": 347, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn347", "evidence": [ { "id": "Q8IZJ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IZJ1#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 41, "start_aa": "Ser", "end_pos": 41, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser41", "evidence": [ { "id": "Q8IZJ1", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [ { "start_pos": 428, "end_pos": 428, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IZJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IZJ1" }, { "database": "PubMed", "id": "32929029", "url": "https://glygen.org/publication/PubMed/32929029" } ], "site_lbl": "Thr428" }, { "start_pos": 581, "end_pos": 581, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "site_lbl": "Tyr581" }, { "start_pos": 733, "end_pos": 733, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IZJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IZJ1" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Thr733" }, { "start_pos": 737, "end_pos": 737, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IZJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IZJ1" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Tyr737" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "The dependence receptor DCC (deleted in colorectal cancer) defines an alternative mechanism for caspase activation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Forcet C, Ye X, Granger L, Corset V, Shin H, Bredesen DE, Mehlen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-418889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418889" } ], "reference": [ { "type": "PubMed", "id": "11248093", "url": "https://glygen.org/publication/PubMed/11248093" } ] }, { "title": "Mediation of the DCC apoptotic signal by DIP13 alpha.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Liu J, Yao F, Wu R, Morgan M, Thorburn A, Finley RL Jr, Chen YQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418889" } ], "reference": [ { "type": "PubMed", "id": "12011067", "url": "https://glygen.org/publication/PubMed/12011067" } ] }, { "title": "ERM proteins and merlin: integrators at the cell cortex.", "journal": "Nature reviews. Molecular cell biology", "date": "2002", "authors": "Bretscher A, Edwards K, Fehon RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-373752", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373752" } ], "reference": [ { "type": "PubMed", "id": "12154370", "url": "https://glygen.org/publication/PubMed/12154370" } ] }, { "title": "Modulation of G(ialpha(2)) signaling by the axonal guidance molecule UNC5H2.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2002", "authors": "Komatsuzaki K, Dalvin S, Kinane TB", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" }, { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" } ], "reference": [ { "type": "PubMed", "id": "12359238", "url": "https://glygen.org/publication/PubMed/12359238" } ] }, { "title": "p53RDL1 regulates of p53-dependent apoptosis.", "journal": "Nat. Cell Biol.", "date": "2003", "authors": "Tanikawa C, Matsuda K, Fukuda S, Nakamura Y, Arakawa H", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "reference": [ { "type": "PubMed", "id": "12598906", "url": "https://glygen.org/publication/PubMed/12598906" } ] }, { "title": "The netrin-1 receptors UNC5H are putative tumor suppressors controlling cell death commitment.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2003", "authors": "Thiebault K, Mazelin L, Pays L, Llambi F, Joly MO, Scoazec JY, Saurin JC, Romeo G, Mehlen P", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" }, { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" } ], "reference": [ { "type": "PubMed", "id": "12655055", "url": "https://glygen.org/publication/PubMed/12655055" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Role of the dependence receptor DCC in colorectal cancer pathogenesis.", "journal": "Journal of clinical oncology : official journal of the American Society of Clinical Oncology", "date": "2004", "authors": "Mehlen P, Fearon ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-418889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418889" } ], "reference": [ { "type": "PubMed", "id": "15310786", "url": "https://glygen.org/publication/PubMed/15310786" } ] }, { "title": "Netrin-1 and its receptors in tumorigenesis.", "journal": "Nature reviews. Cancer", "date": "2004", "authors": "Arakawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-418889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418889" } ], "reference": [ { "type": "PubMed", "id": "15573119", "url": "https://glygen.org/publication/PubMed/15573119" } ] }, { "title": "The dependence receptor UNC5H2 mediates apoptosis through DAP-kinase.", "journal": "EMBO J.", "date": "2005", "authors": "Llambi F, Lourenco FC, Gozuacik D, Guix C, Pays L, Del Rio G, Kimchi A, Mehlen P", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "reference": [ { "type": "PubMed", "id": "15729359", "url": "https://glygen.org/publication/PubMed/15729359" } ] }, { "title": "Netrin-1: when a neuronal guidance cue turns out to be a regulator of tumorigenesis.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2005", "authors": "Mehlen P, Furne C", "evidence": [ { "database": "Reactome", "id": "R-HSA-418889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418889" } ], "reference": [ { "type": "PubMed", "id": "16158190", "url": "https://glygen.org/publication/PubMed/16158190" } ] }, { "title": "DCC regulates cell adhesion in human colon cancer derived HT-29 cells and associates with ezrin.", "journal": "European journal of cell biology", "date": "2006", "authors": "Martin M, Simon-Assmann P, Kedinger M, Martin M, Mangeat P, Real FX, Fabre M", "evidence": [ { "database": "Reactome", "id": "R-HSA-373752", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373752" } ], "reference": [ { "type": "PubMed", "id": "16762451", "url": "https://glygen.org/publication/PubMed/16762451" } ] }, { "title": "Characterization of the receptors for axon guidance factor netrin-4 and identification of the binding domains.", "journal": "Molecular and cellular neurosciences", "date": "2007", "authors": "Qin S, Yu L, Gao Y, Zhou R, Zhang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-373752", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373752" } ], "reference": [ { "type": "PubMed", "id": "17174565", "url": "https://glygen.org/publication/PubMed/17174565" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q8IZJ1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IZJ1-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Lipid raft localization and palmitoylation: identification of two requirements for cell death induction by the tumor suppressors UNC5H.", "journal": "Exp. Cell Res.", "date": "2008", "authors": "Maisse C, Rossin A, Cahuzac N, Paradisi A, Klein C, Haillot ML, Herincs Z, Mehlen P, Hueber AO", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "reference": [ { "type": "PubMed", "id": "18582460", "url": "https://glygen.org/publication/PubMed/18582460" } ] }, { "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": "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": "FLRT structure: balancing repulsion and cell adhesion in cortical and vascular development.", "journal": "Neuron", "date": "2014", "authors": "Seiradake E, del Toro D, Nagel D, Cop F, Hartl R, Ruff T, Seyit-Bremer G, Harlos K, Border EC, Acker-Palmer A, Jones EY, Klein R", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "reference": [ { "type": "PubMed", "id": "25374360", "url": "https://glygen.org/publication/PubMed/25374360" } ] }, { "title": "Structural basis of latrophilin-FLRT-UNC5 interaction in cell adhesion.", "journal": "Structure", "date": "2015", "authors": "Lu YC, Nazarko OV, Sando R 3rd, Salzman GS, Li NS, Sudhof TC, Arac D", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "reference": [ { "type": "PubMed", "id": "26235030", "url": "https://glygen.org/publication/PubMed/26235030" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "Q8IZJ1", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Netrin1 deficiency activates MST1 via UNC5B receptor, promoting dopaminergic apoptosis in Parkinson's disease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Ahn EH, Kang SS, Qi Q, Liu X, Ye K", "evidence": [ { "database": "iPTMnet", "id": "Q8IZJ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IZJ1" } ], "reference": [ { "type": "PubMed", "id": "32929029", "url": "https://glygen.org/publication/PubMed/32929029" } ] }, { "title": "Long non-coding RNA PITPNA-AS1 regulates UNC5B expression in papillary thyroid cancer via sponging miR-129-5p.", "journal": "The International journal of biological markers", "date": "2021", "authors": "Mei S, Zong H, Zhou H", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" } ], "reference": [ { "type": "PubMed", "id": "33706585", "url": "https://glygen.org/publication/PubMed/33706585" } ] }, { "title": "UNC5B Promotes Vascular Endothelial Cell Senescence via the ROS-Mediated P53 Pathway.", "journal": "Oxidative medicine and cellular longevity", "date": "2021", "authors": "Yang Z, Li H, Luo P, Yan D, Yang N, Zhang Y, Huang Y, Liu Y, Zhang L, Yan J, Zhang C", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" } ], "reference": [ { "type": "PubMed", "id": "34239689", "url": "https://glygen.org/publication/PubMed/34239689" } ] }, { "title": "A ligand-insensitive UNC5B splicing isoform regulates angiogenesis by promoting apoptosis.", "journal": "Nature communications", "date": "2021", "authors": "Pradella D, Deflorian G, Pezzotta A, Di Matteo A, Belloni E, Campolungo D, Paradisi A, Bugatti M, Vermi W, Campioni M, Chiapparino A, Scietti L, Forneris F, Giampietro C, Volf N, Rehman M, Zacchigna S, Paronetto MP, Pistocchi A, Eichmann A, Mehlen P, Ghigna C", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" } ], "reference": [ { "type": "PubMed", "id": "34381052", "url": "https://glygen.org/publication/PubMed/34381052" } ] }, { "title": "Delta40p53 isoform up-regulates netrin-1/UNC5B expression and potentiates netrin-1 pro-oncogenic activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2021", "authors": "Sun Y, Manceau A, Frydman L, Cappuccio L, Neves D, Basso V, Wang H, Fombonne J, Maisse C, Mehlen P, Paradisi A", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" } ], "reference": [ { "type": "PubMed", "id": "34470826", "url": "https://glygen.org/publication/PubMed/34470826" } ] }, { "title": "Netrin-1 induces the anti-apoptotic and pro-survival effects of B-ALL cells through the Unc5b-MAPK axis.", "journal": "Cell communication and signaling : CCS", "date": "2022", "authors": "Huang L, An X, Zhu Y, Zhang K, Xiao L, Yao X, Zeng X, Liang S, Yu J", "evidence": [ { "database": "RefSeq", "id": "NP_001231818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231818" } ], "reference": [ { "type": "PubMed", "id": "35974411", "url": "https://glygen.org/publication/PubMed/35974411" } ] }, { "title": "The DCC gene product induces apoptosis by a mechanism requiring receptor proteolysis.", "journal": "Nature", "date": "1998", "authors": "Mehlen P, Rabizadeh S, Snipas SJ, Assa-Munt N, Salvesen GS, Bredesen DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418889", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418889" } ], "reference": [ { "type": "PubMed", "id": "9796814", "url": "https://glygen.org/publication/PubMed/9796814" } ] }, { "title": "Siah-1 N-terminal RING domain is required for proteolysis function, and C-terminal sequences regulate oligomerization and binding to target proteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Hu G, Fearon ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-373752", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373752" } ], "reference": [ { "type": "PubMed", "id": "9858595", "url": "https://glygen.org/publication/PubMed/9858595" } ] } ], "pathway": [ { "id": "hsa:219699", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:219699", "resource": "KEGG Pathway" }, { "id": "R-HSA-373752", "name": "Netrin-1 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373752", "resource": "Reactome", "description": "Netrin-1 signaling" }, { "id": "R-HSA-418886", "name": "Netrin mediated repulsion signals", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418886", "resource": "Reactome", "description": "Netrin mediated repulsion signals" }, { "id": "R-HSA-418889", "name": "Caspase activation via Dependence Receptors in the absence of ligand", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418889", "resource": "Reactome", "description": "Caspase activation via Dependence Receptors in the absence of ligand" } ], "orthologs": [ { "uniprot_canonical_ac": "O08722-1", "protein_name": "Netrin receptor UNC5B", "gene_name": "Unc5b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRARSGARGALLLALLLCWDPTPSLAGIDSGGQALPDSFPSAPAEQLPHFLLEPEDAYIVKNKPVELHCRAFPATQIYFKCNGEWVSQKGHVTQESLDEATGLRIREVQIEVSRQQVEELFGLEDYWCQCVAWSSSGTTKSRRAYIRIAYLRKNFDQEPLAKEVPLDHEVLLQCRPPEGVPVAEVEWLKNEDVIDPAQDTNFLLTIDHNLIIRQARLSDTANYTCVAKNIVAKRRSTTATVIVYVNGGWSSWAEWSPCSNRCGRGWQKRTRTCTNPAPLNGGAFCEGQACQKTACTTVCPVDGAWTEWSKWSACSTECAHWRSRECMAPPPQNGGRDCSGTLLDSKNCTDGLCVLNQRTLNDPKSRPLEPSGDVALYAGLVVAVFVVLAVLMAVGVIVYRRNCRDFDTDITDSSAALTGGFHPVNFKTARPSNPQLLHPSAPPDLTASAGIYRGPVYALQDSADKIPMTNSPLLDPLPSLKIKVYDSSTIGSGAGLADGADLLGVLPPGTYPGDFSRDTHFLHLRSASLGSQHLLGLPRDPSSSVSGTFGCLGGRLTIPGTGVSLLVPNGAIPQGKFYDLYLRINKTESTLPLSEGSQTVLSPSVTCGPTGLLLCRPVVLTVPHCAEVIAGDWIFQLKTQAHQGHWEEVVTLDEETLNTPCYCQLEAKSCHILLDQLGTYVFTGESYSRSAVKRLQLAIFAPALCTSLEYSLRVYCLEDTPAALKEVLELERTLGGYLVEEPKTLLFKDSYHNLRLSLHDIPHAHWRSKLLAKYQEIPFYHVWNGSQKALHCTFTLERHSLASTEFTCKVCVRQVEGEGQIFQLHTTLAETPAGSLDALCSAPGNAATTQLGPYAFKIPLSIRQKICNSLDAPNSRGNDWRLLAQKLSMDRYLNYFATKASPTGVILDLWEARQQDDGDLNSLASALEEMGKSEMLVAMTTDGDC", "length": 945 }, "evidence": [ { "id": "45226553", "url": "http://www.informatics.jax.org/homology/45226553", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8K1S3-1", "protein_name": "Netrin receptor UNC5B", "gene_name": "Unc5b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRARSGVRSALLLALLLCWDPTPSLAGVDSAGQVLPDSYPSAPAEQLPYFLLEPQDAYIVKNKPVELHCRAFPATQIYFKCNGEWVSQNDHVTQESLDEATGLRVREVQIEVSRQQVEELFGLEDYWCQCVAWSSSGTTKSRRAYIRIAYLRKNFDQEPLAKEVPLDHEVLLQCRPPEGVPVAEVEWLKNEDVIDPAQDTNFLLTIDHNLIIRQARLSDTANYTCVAKNIVAKRRSTTATVIVYVNGGWSSWAEWSPCSNRCGRGWQKRTRTCTNPAPLNGGAFCEGQAFQKTACTTVCPVDGAWTEWSKWSACSTECAHWRSRECMAPPPQNGGRDCSGTLLDSKNCTDGLCVLNQRTLNDPKSHPLETSGDVALYAGLVVAVFVVVAVLMAVGVIVYRRNCRDFDTDITDSSAALTGGFHPVNFKTARPNNPQLLHPSAPPDLTASAGIYRGPVYALQDSADKIPMTNSPLLDPLPSLKIKVYNSSTIGSGSGLADGADLLGVLPPGTYPGDFSRDTHFLHLRSASLGSQHLLGLPRDPSSSVSGTFGCLGGRLSLPGTGVSLLVPNGAIPQGKFYDLYLHINKAESTLPLSEGSQTVLSPSVTCGPTGLLLCRPVVLTVPHCAEVIAGDWIFQLKTQAHQGHWEEVVTLDEETLNTPCYCQLEAKSCHILLDQLGTYVFMGESYSRSAVKRLQLAIFAPALCTSLEYSLRVYCLEDTPVALKEVLELERTLGGYLVEEPKPLLFKDSYHNLRLSLHDIPHAHWRSKLLAKYQEIPFYHVWNGSQRALHCTFTLERHSLASTEFTCKVCVRQVEGEGQIFQLHTTLAETPAGSLDALCSAPGNAITTQLGPYAFKIPLSIRQKICSSLDAPNSRGNDWRLLAQKLSMDRYLNYFATKASPTGVILDLWEARQQDDGDLNSLASALEEMGKSEMLVAMATDGDC", "length": 945 }, "evidence": [ { "id": "45226553", "url": "http://www.informatics.jax.org/homology/45226553", "database": "MGI" }, { "id": "Q8IZJ1", "url": "https://omabrowser.org/oma/group/Q8IZJ1/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q95TU8-1", "protein_name": "Netrin receptor unc-5", "gene_name": "unc-5", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MAVINKAGNVIALLLVKLQLILLFTLSVSGELPQLDYGSLSASLEEDAIDPLTAMAPFANSLVTEESAQHKNNAELLGNSSEDENVRPQQGSSSSGLGSSGAAGGSGILLEEFNSGKLSPGEASNTLPIFLIEPESVFVVKNRPAVLKCKASHSLQVIFKCSGSSQPPPSTHETHVDPHTGVNMEEVTATIHRDLVDEFFGDGPFKCECHAWSSRGVVKSQAATVHIAYIRKSFNQSPTSLRLELGSRAELRCEPPGGFPEPKLTWHKNNAVITADSEPGITVSAGTLIFRQVALQHMANYSCSAENIAGRRVSDSAVLIVYVNGGWSTWSPWRECKCAGKPSQGRKRSRTCNNPMPLNGGAQCPGPQIQKSADCAACPEDTQIVSPDGFDISSSKRMARWSAWSDWSICSAECIQVRRRKCLTQGQTQISSEAEEAGDLLLGAPGVGMAALIAAAGVGAVGSPSEATGSSSDIIPGYGKSLCAGKDIQTAECRGEQCQIGKDDFDWTLYLGLAFITAVCFAFGTALICCARRGIRTNPHYNMARSVMDADYMPGVVEKKEMRMHIEASNMGYDYVNPGHRYLPGEHIMGMGIGCGGVTEHHYDVPNLSANYTNPIDHLSVDYLSETGESSTADTSNSTFDMNGKLSILNASKSSTYEMLGSAGGQLRLYGGELLLFVPEHAIGKHVKKHVSLLLLSDECSRVSCATESSILCSSVVHSAPRNYSFVKPVILKIPHCLVAPEQWHVHIYHADSEHDELSVNWRRAVSVGEETINTPMFVQLEATHVFIMTEQLGHFTVVAEPRIQQPSIKMKLLAFSQHTPPSNANCSLRIYVVKDFPNSRDICANVEAKLGGSFLGESQVFAFTLNSRNLNIRVRSADVEAAAPYEHAIPYQHILSNNSILHCEFSLRRQDQNSLCVDFGQGSEDDYYTFNIPAHSMSGSAEELASTTNTTISIDRQGNYVNESCVMDFVQLPHATKRLICGALDPPRADERDWRLLAKKLNTDRYIAYFATKASPTEQILNLWECRANSSPGSSSNSVSHTIMALLLTLKEMGRQDVLDIIVETIGPLWI", "length": 1072 }, "evidence": [ { "id": "Q8IZJ1", "url": "https://omabrowser.org/oma/group/Q8IZJ1/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase signaling", "id": "GO:0014068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014068", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "pmid": "" }, { "name": "anterior/posterior axon guidance", "id": "GO:0033564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033564", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "netrin receptor activity", "id": "GO:0005042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005042", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "netrin receptor UNC5B O-glycosylated 1 (human)", "definition": "A netrin receptor UNC5B (human) that has been O-glycosylated at the residue equivalent to Ser-41 of the amino acid sequence represented by UniProtKB:Q8IZJ1-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q8IZJ1-1, Ser-41, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000057649", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057649" } ] } ], "site_annotation": [ { "start_pos": 222, "end_pos": 224, "annotation": "n_glycosylation_sequon" }, { "start_pos": 347, "end_pos": 349, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Palmitoylation is required for pro-apoptotic activity, but not for location at lipid rafts.", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" }, { "database": "PubMed", "id": "O08722", "url": "https://glygen.org/publication/PubMed/O08722" } ] }, { "annotation": "Proteolytically cleaved by caspases during apoptosis. The cleavage does not take place when the receptor is associated with netrin ligand. Its cleavage by caspases is required to induce apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q8IZJ1", "url": "https://www.uniprot.org/uniprot/Q8IZJ1" }, { "database": "PubMed", "id": "12598906", "url": "https://glygen.org/publication/PubMed/12598906" } ] } ], "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" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 14 } ], "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": 14 }, { "field": "total_sites", "count": 14 } ], "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": 28 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }