{ "uniprot_canonical_ac": "O43909-1", "uniprot_ac": "O43909", "uniprot_id": "EXTL3_HUMAN", "mass": { "chemical_mass": 104749.0, "monoisotopic_mass": 104749.0 }, "refseq": { "ac": "NP_001431", "name": "exostosin-like 3", "summary": "This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431" }, "gene_names": [ { "name": "EXTL3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43909", "id": "O43909" }, { "name": "BOTV; EXTL1L; EXTR1; ISDNA; REGR; RPR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431", "id": "NP_001431" }, { "name": "EXTL1L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43909", "id": "O43909" }, { "name": "EXTL3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431", "id": "NP_001431" }, { "name": "EXTR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43909", "id": "O43909" }, { "name": "KIAA0519", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43909", "id": "O43909" } ], "protein_names": [ { "name": "Exostosin-like 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43909" }, { "name": "2.4.1.223", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43909" }, { "name": "EXT-related protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43909" }, { "name": "Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43909" }, { "name": "Hereditary multiple exostoses gene isolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43909" }, { "name": "Multiple exostosis-like protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43909" }, { "name": "Putative tumor suppressor protein EXTL3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43909" }, { "name": "exostosin-like 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431", "id": "NP_001431" }, { "name": "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; putative tumor suppressor protein EXTL3; hereditary multiple exostoses gene isolog; reg receptor; exostoses (multiple)-like 3; exostosin tumor-like 3; EXT-related 1; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431", "id": "NP_001431" } ], "function": [ { "annotation": "Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS) (PubMed:28132690, PubMed:28148688). Initiates HS synthesis by transferring the first N-acetyl-alpha-D-glucosamine (alpha-GlcNAc) residue (GlcNAcT-I activity) to the tetrasaccharide linker (GlcA-Gal-Gal-Xyl-)Ser core linker (PubMed:11390981, PubMed:35676258). May also transfer alpha-GlcNAc residues during HS elongation (GlcNAcT-II activity) (PubMed:11390981, PubMed:35676258). Lacks glucuronyl transferase II (GlcAT-II) activity (PubMed:11390981, PubMed:35676258). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:28132690, PubMed:28148688, PubMed:11390981, PubMed:22727489, PubMed:35676258). Through the synthesis of HS, regulates postnatal pancreatic islet maturation and insulin secretion (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909#function" }, { "database": "PubMed", "id": "28148688", "url": "https://glygen.org/publication/PubMed/28148688" }, { "database": "UniProtKB", "id": "Q9WVL6", "url": "https://www.uniprot.org/uniprot/Q9WVL6#function" }, { "database": "PubMed", "id": "28132690", "url": "https://glygen.org/publication/PubMed/28132690" }, { "database": "PubMed", "id": "22727489", "url": "https://glygen.org/publication/PubMed/22727489" }, { "database": "PubMed", "id": "35676258", "url": "https://glygen.org/publication/PubMed/35676258" }, { "database": "PubMed", "id": "11390981", "url": "https://glygen.org/publication/PubMed/11390981" } ] }, { "annotation": "Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion.", "evidence": [ { "database": "RefSeq", "id": "NP_001431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431" }, { "database": "PubMed", "id": "36181793", "url": "https://glygen.org/publication/PubMed/36181793" } ] }, { "annotation": "REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431" }, { "database": "PubMed", "id": "34099862", "url": "https://glygen.org/publication/PubMed/34099862" } ] }, { "annotation": "Receptor for REG3A, REG3B and REG3G, induces the activation of downstream signaling pathways such as PI3K-AKT or RAS-RAF-MEK-ERK signaling pathway (PubMed:22727489, PubMed:34099862, PubMed:27830702). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489). Required for the inhibition of skin inflammation mediated by REGA through the activation of PI3K-AKT-STAT3 pathway (PubMed:27830702). Required for the function of REGA and REG3G in glucose tolerance in pancreas (PubMed:19158046). Expressed in microglia, is activated by nociceptor-derived REG3G in response to endotoxins, leading to the inhibition of kynurenine pathway to prevent endotoxic death (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909#function" }, { "database": "UniProtKB", "id": "Q9WVL6", "url": "https://www.uniprot.org/uniprot/Q9WVL6#function" }, { "database": "PubMed", "id": "22727489", "url": "https://glygen.org/publication/PubMed/22727489" }, { "database": "PubMed", "id": "19158046", "url": "https://glygen.org/publication/PubMed/19158046" }, { "database": "PubMed", "id": "27830702", "url": "https://glygen.org/publication/PubMed/27830702" }, { "database": "PubMed", "id": "34099862", "url": "https://glygen.org/publication/PubMed/34099862" } ] }, { "annotation": "These results suggest that EXTL3/EXTR1 is a cell surface Reg receptor that binds to Reg protein.", "evidence": [ { "database": "RefSeq", "id": "NP_001431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431" }, { "database": "PubMed", "id": "10753861", "url": "https://glygen.org/publication/PubMed/10753861" } ] }, { "annotation": "This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431" } ] } ], "disease": [ { "disease_id": "MONDO:0044312", "recommended_name": { "id": "MONDO:0044312", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044312", "name": "immunoskeletal dysplasia with neurodevelopmental abnormalities", "description": "" }, "synonyms": [ { "id": "MONDO:0044312", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044312", "name": "IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities", "description": "" }, { "id": "MONDO:0044312", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044312", "name": "ISDNA", "description": "" }, { "id": "MIM:617425", "resource": "MIM", "url": "https://www.omim.org/entry/617425", "name": "Immunoskeletal dysplasia with neurodevelopmental abnormalities", "description": "Immunoskeletal dysplasia with neurodevelopmental abnormalities" } ], "evidence": [ { "id": "0044312", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044312" }, { "id": "617425", "database": "MIM", "url": "https://www.omim.org/entry/617425" } ] } ], "snv": [ { "evidence": [ { "id": "rs1194053576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194053576" }, { "id": "rs1194053576", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194053576" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 594, "end_pos": 594, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFA); o-glyco-site-loss (T->A).", "chr_id": "8", "chr_pos": "28717839", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T594", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754610555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754610555" }, { "id": "rs754610555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754610555" }, { "id": "rs754610555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754610555#frequency_tab" }, { "id": "rs754610555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754610555" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 594, "end_pos": 594, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFI); o-glyco-site-loss (T->I).", "chr_id": "8", "chr_pos": "28717840", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T594", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781076940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781076940" }, { "id": "rs781076940", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781076940" }, { "id": "rs781076940", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781076940" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 404, "end_pos": 404, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "8", "chr_pos": "28717269", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1402183338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402183338" }, { "id": "rs1402183338", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402183338" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 659, "end_pos": 659, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVT).", "chr_id": "8", "chr_pos": "28718034", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P659", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1325380340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325380340" }, { "id": "rs1325380340", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1325380340#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 680, "end_pos": 680, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSL->NSS).", "chr_id": "8", "chr_pos": "28718098", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L680", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43909", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43909" }, { "id": "rs1037328857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1037328857" }, { "id": "rs1037328857", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1037328857" }, { "id": "23856246", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23856246" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 842, "end_pos": 842, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HIT->NIT).", "chr_id": "8", "chr_pos": "28743188", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H842", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "71.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "61.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "72.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "56.49", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "74.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "56.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "74.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "76.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "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": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "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": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "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": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "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": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "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": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "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": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O43909", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43909" } ], "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": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "common_name": "Human" } ], "gene": [ { "name": "EXTL3", "url": "https://www.uniprot.org/uniprot/O43909", "locus": { "chromosome": "8", "start_pos": 28756561, "end_pos": 28600469, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000012232", "url": "https://www.ensembl.org/id/ENSG00000012232" } ] } } ], "crossref": [ { "id": "ENSG00000012232", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000012232", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43909", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43909", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "2.4.1.223", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.4.1.223&UniProtAcc=O43909", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "GT47", "url": "http://www.cazy.org/GT47.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "GT64", "url": "http://www.cazy.org/GT64.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "EXTL3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2137", "url": "https://www.ncbi.nlm.nih.gov/gene/2137", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "3518", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3518", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43909", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43909*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR004263", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004263", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015338", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015338", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029044", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029044", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040911", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040911", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2137", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2137", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605744", "url": "http://www.omim.org/entry/605744", "database": "MIM", "categories": [ "Other" ] }, { "id": "617425", "url": "http://www.omim.org/entry/617425", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43909", "url": "https://www.nextprot.org/entry/NX_O43909", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43909", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43909", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KFMGSHT", "url": "https://omabrowser.org/oma/group/KFMGSHT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1220028at2759", "url": "http://www.orthodb.org/?query=1220028at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR48261", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48261", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR48261:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48261:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7AU2", "url": "https://www.rcsb.org/structure/7AU2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AUA", "url": "https://www.rcsb.org/structure/7AUA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8OG1", "url": "https://www.rcsb.org/structure/8OG1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8OG4", "url": "https://www.rcsb.org/structure/8OG4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF03016", "url": "http://pfam.xfam.org/family/PF03016", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF09258", "url": "http://pfam.xfam.org/family/PF09258", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43909", "url": "https://pharos.nih.gov/targets/O43909", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050758", "url": "https://proconsortium.org/app/entry/PR:000050758", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O43909", "url": "http://purl.obolibrary.org/obo/PR_O43909", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "16221", "url": "https://www.rhea-db.org/rhea/16221", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O43909", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A8Q3SIB8", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIB8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIB8-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIB8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIF4", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIF4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIF4-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIF4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SII2", "url": "https://www.uniprot.org/uniprot/A0A8Q3SII2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SII2-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SII2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIK7", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIK7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIK7-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIK7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YB01", "url": "https://www.uniprot.org/uniprot/H0YB01", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YB01-1", "url": "https://www.uniprot.org/uniprot/H0YB01-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBJ7", "url": "https://www.uniprot.org/uniprot/H0YBJ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBJ7-1", "url": "https://www.uniprot.org/uniprot/H0YBJ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43909-1", "url": "https://www.uniprot.org/uniprot/O43909-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEAGKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKSIENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLHNCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVILVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQSTFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEARSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGEREDRLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNEAALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQIPAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDFYRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPREQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRTEKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLVSHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVDSVLFKTRLPHDKTKCFKFI", "length": 919, "header": "sp|O43909-1|EXTL3_HUMAN Isoform 1 of Exostosin-like 3 OS=Homo sapiens OX=9606 GN=EXTL3 PE=1 SV=1 CANONICAL=O43909-1" }, "isoforms": [ { "isoform_ac": "A0A8Q3SIB8-1", "url": "", "sequence": { "sequence": "MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEAGKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKSIENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLHNCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVILVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQSTFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEARSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGEREDRLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNEAALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQIPAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDFYRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPREQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRTEKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLVSHITRKPPIKVRSHHWWGCGCVHVYFTCFAVVQHVTALYLRVLICTIGMILPTSSKDCL", "length": 899, "header": "tr|A0A8Q3SIB8-1|EXTL3_HUMAN Computationally mapped isoform of Exostosin-like 3 OS=Homo sapiens OX=9606 GN=EXTL3 PE=1 SV=1 CANONICAL=O43909-1" }, "locus": { "chromosome": "8", "start_pos": 28743361, "end_pos": 28716060, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696179.1", "url": "https://www.ensembl.org/id/ENST00000696179.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512469.1", "url": "https://www.ensembl.org/id/ENSP00000512469.1" } ] } }, { "isoform_ac": "A0A8Q3SIF4-1", "url": "", "sequence": { "sequence": "MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEAGKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKSIENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLHNCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVILVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQSTFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEARSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGEREDRLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNEAALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQIPAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDFYRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPREQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRTEKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKAIRDMVDEYINCEDIAMNFLVSHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVDSVLFKTRLPHDKTKCFKFI", "length": 907, "header": "tr|A0A8Q3SIF4-1|EXTL3_HUMAN Computationally mapped isoform of Exostosin-like 3 OS=Homo sapiens OX=9606 GN=EXTL3 PE=1 SV=1 CANONICAL=O43909-1" }, "locus": { "chromosome": "8", "start_pos": 28750863, "end_pos": 28716060, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696180.1", "url": "https://www.ensembl.org/id/ENST00000696180.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512470.1", "url": "https://www.ensembl.org/id/ENSP00000512470.1" } ] } }, { "isoform_ac": "A0A8Q3SII2-1", "url": "", "sequence": { "sequence": "MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEAGKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKSIENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLHNCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVILVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQSTFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEARSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGEREDRLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNEAALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQIPAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDFYRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPREQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMGVERSSGPHRGLPWPLPRMGHPPSVLALQLQLLL", "length": 750, "header": "tr|A0A8Q3SII2-1|EXTL3_HUMAN Computationally mapped isoform of Exostosin-like 3 OS=Homo sapiens OX=9606 GN=EXTL3 PE=1 SV=1 CANONICAL=O43909-1" }, "locus": { "chromosome": "8", "start_pos": 28737620, "end_pos": 28716060, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696181.1", "url": "https://www.ensembl.org/id/ENST00000696181.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512471.1", "url": "https://www.ensembl.org/id/ENSP00000512471.1" } ] } }, { "isoform_ac": "A0A8Q3SIK7-1", "url": "", "sequence": { "sequence": "MFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLVSHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVDSVLFKTRLPHDKTKCFKFI", "length": 165, "header": "tr|A0A8Q3SIK7-1|EXTL3_HUMAN Computationally mapped isoform of Exostosin-like 3 OS=Homo sapiens OX=9606 GN=EXTL3 PE=1 SV=1 CANONICAL=O43909-1" }, "locus": { "chromosome": "8", "start_pos": 28750863, "end_pos": 28731337, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696182.1", "url": "https://www.ensembl.org/id/ENST00000696182.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512472.1", "url": "https://www.ensembl.org/id/ENSP00000512472.1" } ] } }, { "isoform_ac": "H0YB01-1", "url": "", "sequence": { "sequence": "XLDPLVKQAFQATARANVYVTENADIACLYVILVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRGPY", "length": 75, "header": "tr|H0YB01-1|EXTL3_HUMAN Computationally mapped isoform of Exostosin-like 3 OS=Homo sapiens OX=9606 GN=EXTL3 PE=1 SV=1 CANONICAL=O43909-1" }, "locus": { "chromosome": "8", "start_pos": 28731234, "end_pos": 28716685, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522698.1", "url": "https://www.ensembl.org/id/ENST00000522698.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000428352.1", "url": "https://www.ensembl.org/id/ENSP00000428352.1" } ] } }, { "isoform_ac": "H0YBJ7-1", "url": "", "sequence": { "sequence": "XLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRTEKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVDSVLFKTRLPH", "length": 201, "header": "tr|H0YBJ7-1|EXTL3_HUMAN Computationally mapped isoform of Exostosin-like 3 OS=Homo sapiens OX=9606 GN=EXTL3 PE=1 SV=1 CANONICAL=O43909-1" }, "locus": { "chromosome": "8", "start_pos": 28750836, "end_pos": 28718060, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521473.5", "url": "https://www.ensembl.org/id/ENST00000521473.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429627.1", "url": "https://www.ensembl.org/id/ENSP00000429627.1" } ] } }, { "isoform_ac": "O43909-1", "url": "", "sequence": { "sequence": "MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEAGKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKSIENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLHNCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVILVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQSTFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEARSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGEREDRLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNEAALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQIPAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDFYRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPREQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRTEKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLVSHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVDSVLFKTRLPHDKTKCFKFI", "length": 919, "header": "sp|O43909-1|EXTL3_HUMAN Isoform 1 of Exostosin-like 3 OS=Homo sapiens OX=9606 GN=EXTL3 PE=1 SV=1 CANONICAL=O43909-1" }, "locus": { "chromosome": "8", "start_pos": 28750863, "end_pos": 28716060, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000220562.9", "url": "https://www.ensembl.org/id/ENST00000220562.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000220562.4", "url": "https://www.ensembl.org/id/ENSP00000220562.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "KNVISQTEHSYKEL", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 132, "start_aa": "Lys", "end_pos": 145, "end_aa": "Leu", "evidence": [ { "id": "O43909", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "SQT", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 136, "start_aa": "Ser", "end_pos": 138, "end_aa": "Thr", "evidence": [ { "id": "O43909", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 138, "start_aa": "Thr", "end_pos": 138, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr138", "evidence": [ { "id": "O43909", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 290, "start_aa": "Asn", "end_pos": 290, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn290", "evidence": [ { "id": "O43909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43909#ptm_processing" }, { "id": "29346724", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29346724" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 563, "start_aa": "Thr", "end_pos": 563, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr563", "evidence": [ { "id": "O43909", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 592, "start_aa": "Asn", "end_pos": 592, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn592", "evidence": [ { "id": "O43909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43909#ptm_processing" }, { "id": "7AUA", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7AUA" }, { "id": "7AU2", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7AU2" }, { "id": "29346724", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29346724" }, { "id": "35676258", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35676258" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 594, "start_aa": "Thr", "end_pos": 594, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr594", "evidence": [ { "id": "O43909", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43909" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 596, "start_aa": "Thr", "end_pos": 596, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr596", "evidence": [ { "id": "O43909", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43909" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 790, "start_aa": "Asn", "end_pos": 790, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn790", "evidence": [ { "id": "O43909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43909#ptm_processing" }, { "id": "7AUA", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7AUA" }, { "id": "7AU2", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7AU2" }, { "id": "35676258", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35676258" } ] } ], "phosphorylation": [ { "start_pos": 362, "end_pos": 362, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "site_lbl": "Ser362" } ], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O43909", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O43909", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "Stress-associated endoplasmic reticulum protein 1 (SERP1)/Ribosome-associated membrane protein 4 (RAMP4) stabilizes membrane proteins during stress and facilitates subsequent glycosylation.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Yamaguchi A, Hori O, Stern DM, Hartmann E, Ogawa S, Tohyama M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "10601334", "url": "https://glygen.org/publication/PubMed/10601334" } ] }, { "title": "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "McCormick C, Duncan G, Goutsos KT, Tufaro F", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "reference": [ { "type": "PubMed", "id": "10639137", "url": "https://glygen.org/publication/PubMed/10639137" } ] }, { "title": "Identification of a receptor for reg (regenerating gene) protein, a pancreatic beta-cell regeneration factor.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kobayashi S, Akiyama T, Nata K, Abe M, Tajima M, Shervani NJ, Unno M, Matsuno S, Sasaki H, Takasawa S, Okamoto H", "evidence": [ { "database": "RefSeq", "id": "NP_001431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431" } ], "reference": [ { "type": "PubMed", "id": "10753861", "url": "https://glygen.org/publication/PubMed/10753861" } ] }, { "title": "HEDJ, an Hsp40 co-chaperone localized to the endoplasmic reticulum of human cells.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Yu M, Haslam RH, Haslam DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "10827079", "url": "https://glygen.org/publication/PubMed/10827079" } ] }, { "title": "Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001-06-19", "authors": "Kim B T, Kitagawa H, Tamura J, Saito T, Kusche-Gullberg M, Lindahl U, Sugahara K", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "reference": [ { "type": "PubMed", "id": "11390981", "url": "https://glygen.org/publication/PubMed/11390981" } ] }, { "title": "Functional analysis of human P5, a protein disulfide isomerase homologue.", "journal": "Journal of biochemistry", "date": "2002", "authors": "Kikuchi M, Doi E, Tsujimoto I, Horibe T, Tsujimoto Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "12204115", "url": "https://glygen.org/publication/PubMed/12204115" } ] }, { "title": "A role for the thiol isomerase protein ERP5 in platelet function.", "journal": "Blood", "date": "2005", "authors": "Jordan PA, Stevens JM, Hubbard GP, Barrett NE, Sage T, Authi KS, Gibbins JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "15466936", "url": "https://glygen.org/publication/PubMed/15466936" } ] }, { "title": "pXBP1(U) encoded in XBP1 pre-mRNA negatively regulates unfolded protein response activator pXBP1(S) in mammalian ER stress response.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Yoshida H, Oku M, Suzuki M, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "16461360", "url": "https://glygen.org/publication/PubMed/16461360" } ] }, { "title": "XBP1 induces WFS1 through an endoplasmic reticulum stress response element-like motif in SH-SY5Y cells.", "journal": "Journal of neurochemistry", "date": "2006", "authors": "Kakiuchi C, Ishiwata M, Hayashi A, Kato T", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "16539657", "url": "https://glygen.org/publication/PubMed/16539657" } ] }, { "title": "Human HRD1 promoter carries a functional unfolded protein response element to which XBP1 but not ATF6 directly binds.", "journal": "Journal of biochemistry", "date": "2008", "authors": "Yamamoto K, Suzuki N, Wada T, Okada T, Yoshida H, Kaufman RJ, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "18664523", "url": "https://glygen.org/publication/PubMed/18664523" } ] }, { "title": "Discovery of a human peptide sequence signaling islet neogenesis.", "journal": "Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists", "date": "2008-12", "authors": "Levetan Claresa S, Upham Loraine V, Deng Shaoping, Laury-Kleintop Lisa, Kery Vladimir, Nolan Roger, Quinlan Jack, Torres Claudio, El-Hajj Rita J", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "reference": [ { "type": "PubMed", "id": "19158046", "url": "https://glygen.org/publication/PubMed/19158046" } ] }, { "title": "Role of miR-204 in the regulation of apoptosis, endoplasmic reticulum stress response, and inflammation in human trabecular meshwork cells.", "journal": "Investigative ophthalmology & visual science", "date": "2011", "authors": "Li G, Luna C, Qiu J, Epstein DL, Gonzalez P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "21282569", "url": "https://glygen.org/publication/PubMed/21282569" } ] }, { "title": "The antimicrobial protein REG3A regulates keratinocyte proliferation and differentiation after skin injury.", "journal": "Immunity", "date": "2012-07-27", "authors": "Lai Yuping, Li Dongqing, Li Changwei, Muehleisen Beda, Radek Katherine A, Park Hyun Jeong, Jiang Ziwei, Li Zhiheng, Lei Hu, Quan Yanchun, Zhang Tian, Wu Yelin, Kotol Paul, Morizane Shin, Hata Tissa R, Iwatsuki Keiji, Tang Ce, Gallo Richard L", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "reference": [ { "type": "PubMed", "id": "22727489", "url": "https://glygen.org/publication/PubMed/22727489" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O43909", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "The exomes of the NCI-60 panel: a genomic resource for cancer biology and systems pharmacology.", "journal": "Cancer research", "date": "2013", "authors": "Abaan OD, Polley EC, Davis SR, Zhu YJ, Bilke S, Walker RL, Pineda M, Gindin Y, Jiang Y, Reinhold WC, Holbeck SL, Simon RM, Doroshow JH, Pommier Y, Meltzer PS", "evidence": [ { "database": "dbSNP", "id": "rs1037328857", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1037328857" } ], "reference": [ { "type": "PubMed", "id": "23856246", "url": "https://glygen.org/publication/PubMed/23856246" } ] }, { "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": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "O43909", "url": "" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Hyperglycaemia inhibits REG3A expression to exacerbate TLR3-mediated skin inflammation in diabetes.", "journal": "Nature communications", "date": "2016-11-10", "authors": "Wu Yelin, Quan Yanchun, Liu Yuanqi, Liu Keiwei, Li Hongquan, Jiang Ziwei, Zhang Tian, Lei Hu, Radek Katherine A, Li Dongqing, Wang Zhenhua, Lu Jilong, Wang Wang, Ji Shizhao, Xia Zhaofan, Lai Yuping", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "reference": [ { "type": "PubMed", "id": "27830702", "url": "https://glygen.org/publication/PubMed/27830702" } ] }, { "title": "Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.", "journal": "American journal of human genetics", "date": "2017", "authors": "Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Muller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "reference": [ { "type": "PubMed", "id": "28132690", "url": "https://glygen.org/publication/PubMed/28132690" } ] }, { "title": "EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.", "journal": "The Journal of experimental medicine", "date": "2017", "authors": "Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zuniga-Pflucker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "reference": [ { "type": "PubMed", "id": "28148688", "url": "https://glygen.org/publication/PubMed/28148688" } ] }, { "title": "Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.", "journal": "Molecular psychiatry", "date": "2018", "authors": "Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "reference": [ { "type": "PubMed", "id": "28397838", "url": "https://glygen.org/publication/PubMed/28397838" } ] }, { "title": "Structural and Biophysical Characterization of Human EXTL3: Domain Organization, Glycosylation, and Solution Structure.", "journal": "Biochemistry", "date": "2018", "authors": "Awad W, Kjellstrom S, Svensson Birkedal G, Mani K, Logan DT", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909#ptm_processing" }, { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "reference": [ { "type": "PubMed", "id": "29346724", "url": "https://glygen.org/publication/PubMed/29346724" } ] }, { "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": "O43909", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway.", "journal": "Communications biology", "date": "2021", "authors": "Zhang H, Corredor ALG, Messina-Pacheco J, Li Q, Zogopoulos G, Kaddour N, Wang Y, Shi BY, Gregorieff A, Liu JL, Gao ZH", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" }, { "database": "RefSeq", "id": "NP_001431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431" } ], "reference": [ { "type": "PubMed", "id": "34099862", "url": "https://glygen.org/publication/PubMed/34099862" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43909", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43909" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "The structure of EXTL3 helps to explain the different roles of bi-domain exostosins in heparan sulfate synthesis.", "journal": "Nature communications", "date": "2022", "authors": "Wilson LFL, Dendooven T, Hardwick SW, Echevarria-Poza A, Tryfona T, Krogh KBRM, Chirgadze DY, Luisi BF, Logan DT, Mani K, Dupree P", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909#ptm_processing" }, { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "reference": [ { "type": "PubMed", "id": "35676258", "url": "https://glygen.org/publication/PubMed/35676258" } ] }, { "title": "Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion.", "journal": "The Journal of biological chemistry", "date": "2022-11", "authors": "Marques Catarina, Po\u00e7as Juliana, Gomes Catarina, Faria-Ramos Isabel, Reis Celso A, Viv\u00e8s Romain R, Magalh\u00e3es Ana", "evidence": [ { "database": "RefSeq", "id": "NP_001431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001431" } ], "reference": [ { "type": "PubMed", "id": "36181793", "url": "https://glygen.org/publication/PubMed/36181793" } ] }, { "title": "Cloning and sequencing of the cDNA encoding human P5.", "journal": "Gene", "date": "1995", "authors": "Hayano T, Kikuchi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "7590364", "url": "https://glygen.org/publication/PubMed/7590364" } ] }, { "title": "Cloning, expression, and cellular localization of the oncogenic 58-kDa inhibitor of the RNA-activated human and mouse protein kinase.", "journal": "Gene", "date": "1996", "authors": "Korth MJ, Lyons CN, Wambach M, Katze MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "8666242", "url": "https://glygen.org/publication/PubMed/8666242" } ] }, { "title": "Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family.", "journal": "Genome research", "date": "1997", "authors": "Wise CA, Clines GA, Massa H, Trask BJ, Lovett M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "9037597", "url": "https://glygen.org/publication/PubMed/9037597" } ] }, { "title": "Identification and characterization of a novel member of the EXT gene family, EXTL2.", "journal": "European journal of human genetics : EJHG", "date": "1997", "authors": "Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Willems PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "9450183", "url": "https://glygen.org/publication/PubMed/9450183" } ] }, { "title": "Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1998", "authors": "Saito T, Seki N, Yamauchi M, Tsuji S, Hayashi A, Kozuma S, Hori T", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" }, { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "9473480", "url": "https://glygen.org/publication/PubMed/9473480" } ] }, { "title": "Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.", "journal": "Genomics", "date": "1998", "authors": "Van Hul W, Wuyts W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Bossuyt P, Willems PJ", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "reference": [ { "type": "PubMed", "id": "9479495", "url": "https://glygen.org/publication/PubMed/9479495" } ] } ], "pathway": [ { "id": "hsa:2137", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2137", "resource": "KEGG Pathway" }, { "id": "R-HSA-381038", "name": "XBP1(S) activates chaperone genes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038", "resource": "Reactome", "description": "XBP1(S) activates chaperone genes" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9JMA8-1", "protein_name": "Exostosin-like glycosyltransferase 3", "gene_name": "Extl3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTGYTMLRNGGVGNGGQTCMLRWSNRIRLTWLSFTLFIILVFFPLIAHYYLTTLDEADEAGKRIFGPRAGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKSIENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKVTRGCRLHNCFDYSRCPLTSGFPVFVYDSDQFAFGSYLDPLVKQAFQATVRANVYVTENAAIACLYVVLVGEIQEPAVLQPADLEKQLHSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQSTFYAAQYRAGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEARSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGEREDRLELLKLSTFALIITPGDPSLLISSGCATRLFEALEVGAVPVVLGEQVQLPYHDMLQWNEAALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQIPAAPIREEVAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPKYLRNFTLTVTDCYRSWNSAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVQREQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRTEKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLVSHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVDSVLFKTRLPHDKTKCFKFI", "length": 919 }, "evidence": [ { "id": "45919349", "url": "http://www.informatics.jax.org/homology/45919349", "database": "MGI" }, { "id": "O43909", "url": "https://omabrowser.org/oma/group/O43909/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9WVL6-1", "protein_name": "Exostosin-like 3", "gene_name": "Extl3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTGYTMLRNGGVGNGGQTCMLRWSNRIRLTWLSFTLFIILVFFPLIAHYYLTTLDEADEAGKRIFGPRAGSELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKSIENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKVTRGCRLHNCFDYSRCPLTSGFPVYVYDSDQFAFGSYLDPLVKQAFQATVRANVYVTENAAIACLYVVLVGEMQEPTVLRPADLEKQLFSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRHVAQSTFYAAQYRAGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEARSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGEREDRLELLKLSTFALIITPGDPHLLISSGCATRLFEALEVGAVPVVLGEQVQLPYHDMLQWNEAALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQIPAAPIREEVAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPKYLRNFTLTVTDCYRGWNSAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVQREQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRTEKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLVSHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVDSVLFKTRLPHDKTKCFKFI", "length": 918 }, "evidence": [ { "id": "45919349", "url": "http://www.informatics.jax.org/homology/45919349", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9XZ08-1", "protein_name": "Exostosin-3", "gene_name": "botv", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MPPAYDLGHSGEAYQPLDTGSGGGNEACAPNSSSAQIRHSMGFRTSWMRQFRRYKLPMVLLMLLFLVSCLAYRILSVEQDAPPLDLHRSSPLLDAYEDFSAMRAGDLKMRIEEMVRIKSTVSVELRELESRRQKLQSDISQYNQKIEELKQELLREQTELERLKISVEQAQVAQREAVQRNTPDLALPRSLLPNTLPRKSNPITGGMAASCEMHNCFNHSRCSLTSGFPVYLYDPDEHSVQRKGYDIDGFLKTTLKQTLGYNAHIVKDPKHACIYLVLVGEALLEQDLLRNNRYAAQEAEHQQPSTPTLENDCPVDMEKLYSLPYWGGDGRNHVLLNLARRDLTSHRTNPLYRQNTMRAIVVQSAFEREQFRPGYDLIVPPILGPPGGDVWQECAEMVPARRKYLLTYQGELRPKQSSLNPLDAFILEHLADMAKGATQDQFVLQFQCVPATEQQEGDSLPDWTLCGSDSSRRQLLKDSTFSLILPPLNGRVSSTLMLARIYEALRSGAVPVILGADELRLPYAETVDWRRTALLLPKARITELHFLLRAVQDADLLLLRRQGRLIWERYLSSVQATVDTVIASLRDRLGIPPRPVPSVIAQSVFNSTFIPLKSDPPVGLDTEPEESLGPIEPPYPSPAFRRNYTILRMQAKEAWNDWLDPFYLYPQLPFDPALPSEAKFMGSHTGFRPIGKGLGGAGKEFGESLGGNYPREQFTIVMLTYEREQVLMDSLGRLYGLPYLHKVVVVWNSPKPPLDDLRWPDIGVPVAVLRAPRNSLNNRFLPFDVIETEAVLSVDDDAHLRHDEILFGFRVWREHRDRVVGFPGRYHAWDLGNPNGQWHYNSNYSCELSMVLTGAAFVHKYYLYLYTYHLPQAIRDKVDEYMNCEDIAMNFLVSHITRKPPVKVTSRWTFRCPGCPVSLSEDDTHFQERHKCINFFSRVFGYTPLLNTQYRADSILFKTRIPHDKQKCFKYI", "length": 972 }, "evidence": [ { "id": "O43909", "url": "https://omabrowser.org/oma/group/O43909/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "protein glycosylation", "id": "GO:0006486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006486", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan biosynthetic process", "id": "GO:0015012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015012", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "negative regulation of keratinocyte differentiation", "id": "GO:0045617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045617", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response to wounding", "id": "GO:0106015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106015", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "positive regulation of detection of glucose", "id": "GO:2000972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000972", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "hexosyltransferase activity", "id": "GO:0016758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016758", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "protein-hormone receptor activity", "id": "GO:0016500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016500", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "glycosyltransferase activity", "id": "GO:0016757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016757", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" }, { "name": "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity", "id": "GO:0001888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001888", "evidence": [ { "database": "UniProtKB", "id": "O43909", "url": "https://www.uniprot.org/uniprot/O43909" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "exostosin-like 3 O-glycosylated 1 (human)", "definition": "An exostosin-like 3 (human) that has been O-glycosylated at the residue equivalent to Thr-563 of the amino acid sequence represented by UniProtKB:O43909-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O43909-1, Thr-563, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050758", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050758" } ] } ], "site_annotation": [ { "start_pos": 277, "end_pos": 279, "annotation": "n_glycosylation_sequon" }, { "start_pos": 290, "end_pos": 292, "annotation": "n_glycosylation_sequon" }, { "start_pos": 592, "end_pos": 594, "annotation": "n_glycosylation_sequon" }, { "start_pos": 790, "end_pos": 792, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "16221", "name": "", "equation": "3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43909-1", "Q9UBQ6-1", "Q9ES89-1", "Q9WVL6-1", "Q9XZ08-1" ], "evidence": [ { "id": "16221", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16221" } ] }, { "id": "R-HSA-1791144", "name": "Expression of EXTL3", "equation": "", "summary": "The EXTL3 gene is transcribed to yield mRNA and the mRNA is translated to yield protein.", "cellular_location": "endoplasmic reticulum membrane, nucleoplasm", "input_participant_list": [ "R-HSA-5642277" ], "output_participant_list": [ "R-HSA-535476" ], "enzyme_list": [ "O43909-1" ], "evidence": [ { "id": "R-HSA-1791144", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1791144" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-535476", "participant_name": "EXTL3 [endoplasmic reticulum membrane]", "crossref": [ { "id": "ENSP00000512467", "database": "Ensembl", "url": "" }, { "id": "ENST00000696186", "database": "Ensembl", "url": "" }, { "id": "ENSP00000512473", "database": "Ensembl", "url": "" }, { "id": "NP_001431.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000220562", "database": "Ensembl", "url": "" }, { "id": "7AU2", "database": "PDB", "url": "" }, { "id": "ENSP00000220562", "database": "Ensembl", "url": "" }, { "id": "ENSG00000012232", "database": "Ensembl", "url": "" }, { "id": "7AUA", "database": "PDB", "url": "" }, { "id": "ENST00000696177", "database": "Ensembl", "url": "" }, { "id": "O43909", "database": "Pharos - Targets", "url": "" }, { "id": "8OG4", "database": "PDB", "url": "" }, { "id": "O43909", "database": "UniProt", "url": "" }, { "id": "ENST00000696178", "database": "Ensembl", "url": "" }, { "id": "O43909", "database": "PRO", "url": "" }, { "id": "27162", "database": "Orphanet", "url": "" }, { "id": "ENSG00000012232", "database": "OpenTargets", "url": "" }, { "id": "O43909", "database": "GeneCards", "url": "" }, { "id": "ENSP00000512468", "database": "Ensembl", "url": "" }, { "id": "ENSP00000512474", "database": "Ensembl", "url": "" }, { "id": "ENSG00000012232-EXTL3", "database": "HPA", "url": "" }, { "id": "8OG1", "database": "PDB", "url": "" }, { "id": "XP_011542742.1", "database": "RefSeq", "url": "" }, { "id": "HMDBP01701", "database": "HMDB Protein", "url": "" }, { "id": "ENST00000696184", "database": "Ensembl", "url": "" } ] }, { "participant_id": "R-HSA-5642277", "participant_name": "EXTL3 gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000012232", "database": "ENSEMBL", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O43909", "gene_name": "EXTL3", "activity": [ { "ec_number": "2.4.1.223", "activity": "3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "O43909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43909" } ] }, { "ec_number": "2.4.1.223", "activity": "", "evidence": [ { "id": "O43909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43909" } ] } ] }, { "uniprot_ac": "Q9ES89", "gene_name": "Extl2", "activity": [ { "ec_number": "2.4.1.223", "activity": "3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9ES89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ES89" } ] }, { "ec_number": "2.4.1.223", "activity": "", "evidence": [ { "id": "Q9ES89", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ES89" } ] } ] }, { "uniprot_ac": "Q9UBQ6", "gene_name": "EXTL2", "activity": [ { "ec_number": "2.4.1.223", "activity": "3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9UBQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBQ6" } ] }, { "ec_number": "2.4.1.223", "activity": "", "evidence": [ { "id": "Q9UBQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBQ6" } ] } ] }, { "uniprot_ac": "Q9WVL6", "gene_name": "Extl3", "activity": [ { "ec_number": "2.4.1.223", "activity": "3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9WVL6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WVL6" } ] }, { "ec_number": "2.4.1.223", "activity": "", "evidence": [ { "id": "Q9WVL6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WVL6" } ] } ] }, { "uniprot_ac": "Q9XZ08", "gene_name": "botv", "activity": [ { "ec_number": "2.4.1.223", "activity": "3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9XZ08", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9XZ08" } ] }, { "ec_number": "2.4.1.223", "activity": "", "evidence": [ { "id": "Q9XZ08", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9XZ08" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 290, 592, 790 ], "o_linked_sites": [ 132, 136, 138, 563, 594, 596 ], "snv_sites": [ 404, 594, 659, 680, 842 ], "glycation_sites": [], "phosphorylation_sites": [ 362 ], "sequon_annotation_sites": [ { "start_pos": 277, "end_pos": 279 }, { "start_pos": 290, "end_pos": 292 }, { "start_pos": 592, "end_pos": 594 }, { "start_pos": 790, "end_pos": 792 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "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": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "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": 6 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "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": 6 }, { "field": "total_sites", "count": 5 } ], "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": 5 }, { "field": "total_sites", "count": 4 } ], "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": 35 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }