{ "uniprot_canonical_ac": "O95461-1", "uniprot_ac": "O95461", "uniprot_id": "LARG1_HUMAN", "mass": { "chemical_mass": 88066.0, "monoisotopic_mass": 88066.0 }, "refseq": { "ac": "NP_004728", "name": "xylosyl- and glucuronyltransferase LARGE1 isoform 1", "summary": "This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728" }, "gene_names": [ { "name": "LARGE1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95461", "id": "O95461" }, { "name": "KIAA0609", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95461", "id": "O95461" }, { "name": "LARGE1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728", "id": "NP_004728" }, { "name": "LARGE; MDC1D; MDDGA6; MDDGB6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728", "id": "NP_004728" }, { "name": "LARGE", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95461", "id": "O95461" } ], "protein_names": [ { "name": "Xylosyl- and glucuronyltransferase LARGE1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95461" }, { "name": "2.4.-.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95461" }, { "name": "Acetylglucosaminyltransferase-like 1A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95461" }, { "name": "Glycosyltransferase-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95461" }, { "name": "LARGE xylosyl- and glucuronyltransferase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95461" }, { "name": "acetylglucosaminyltransferase-like protein; glycosyltransferase-like protein LARGE1; acetylglucosaminyltransferase-like 1A; xylosyl- and glucuronyltransferase LARGE1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728", "id": "NP_004728" }, { "name": "xylosyl- and glucuronyltransferase LARGE1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728", "id": "NP_004728" } ], "function": [ { "annotation": "Bifunctional glycosyltransferase with both alpha-1,3-xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain-containing extracellular proteins with high affinity (PubMed:22223806, PubMed:15752776, PubMed:15661757, PubMed:25279699, PubMed:25279697, PubMed:23125099, PubMed:21987822). Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:22223806, PubMed:25279699, PubMed:25279697, PubMed:25138275, PubMed:32975514, PubMed:23125099). Requires the phosphorylation of core M3 (O-mannosyl trisaccharide) by POMK to elongate the glucuronyl-beta-1,4-xylose-beta disaccharide primer (PubMed:21987822). Plays a key role in skeletal muscle function and regeneration (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461#function" }, { "database": "UniProtKB", "id": "Q9Z1M7", "url": "https://www.uniprot.org/uniprot/Q9Z1M7#function" }, { "database": "PubMed", "id": "21987822", "url": "https://glygen.org/publication/PubMed/21987822" }, { "database": "PubMed", "id": "22223806", "url": "https://glygen.org/publication/PubMed/22223806" }, { "database": "PubMed", "id": "15752776", "url": "https://glygen.org/publication/PubMed/15752776" }, { "database": "PubMed", "id": "15661757", "url": "https://glygen.org/publication/PubMed/15661757" }, { "database": "PubMed", "id": "25138275", "url": "https://glygen.org/publication/PubMed/25138275" }, { "database": "PubMed", "id": "32975514", "url": "https://glygen.org/publication/PubMed/32975514" }, { "database": "PubMed", "id": "25279699", "url": "https://glygen.org/publication/PubMed/25279699" }, { "database": "PubMed", "id": "25279697", "url": "https://glygen.org/publication/PubMed/25279697" }, { "database": "PubMed", "id": "23125099", "url": "https://glygen.org/publication/PubMed/23125099" } ] }, { "annotation": "Clinical significance of LARGE1 in progression of liver cancer and the underlying mechanism.", "evidence": [ { "database": "RefSeq", "id": "NP_004728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728" }, { "database": "PubMed", "id": "33588034", "url": "https://glygen.org/publication/PubMed/33588034" } ] }, { "annotation": "Findings demonstrate that a lack of matriglycan on alpha-dystroglycan is a common feature in rhabdomyosarcoma due to the downregulation of LARGE1, and that ectopic expression of LARGE1 can restore matriglycan modifications and the ability of alpha-dystroglycan to function as an extracellular matrix receptor Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728" }, { "database": "PubMed", "id": "31054580", "url": "https://glygen.org/publication/PubMed/31054580" } ] }, { "annotation": "Large1 gene is a target for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_004728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728" }, { "database": "PubMed", "id": "27636103", "url": "https://glygen.org/publication/PubMed/27636103" } ] }, { "annotation": "The Origins and Future of Sentinel: An Early-Warning System for Pandemic Preemption and Response. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728" }, { "database": "PubMed", "id": "34452470", "url": "https://glygen.org/publication/PubMed/34452470" } ] }, { "annotation": "This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018].", "evidence": [ { "database": "RefSeq", "id": "NP_004728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728" } ] } ], "disease": [ { "disease_id": "DOID:0110637", "recommended_name": { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDC1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDDGB6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "congenital muscular dystrophy LARGE-related", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "congenital muscular dystrophy type 1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "MDC1D", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "MDDGB6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "congenital muscular dystrophy large-related", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "congenital muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy, congenital, large-related", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy, congenital, type 1D", "description": "" }, { "id": "MIM:608840", "resource": "MIM", "url": "https://www.omim.org/entry/608840", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6" } ], "evidence": [ { "id": "0012138", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138" }, { "id": "608840", "database": "MIM", "url": "https://www.omim.org/entry/608840" }, { "id": "LARGE1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/LARGE1/#!details" }, { "id": "9215", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9215#disease" } ] }, { "disease_id": "DOID:0111242", "recommended_name": { "id": "DOID:0111242", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111242", "name": "congenital muscular dystrophy-dystroglycanopathy type A6", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3." }, "synonyms": [ { "id": "DOID:0111242", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111242", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related", "description": "" }, { "id": "DOID:0111242", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111242", "name": "MDDGA6", "description": "" }, { "id": "DOID:0111242", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111242", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6", "description": "" }, { "id": "MONDO:0013158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013158", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6", "description": "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." }, { "id": "MONDO:0013158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013158", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6", "description": "" }, { "id": "MONDO:0013158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013158", "name": "MDDGA6", "description": "" }, { "id": "MONDO:0013158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013158", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, large-related", "description": "" }, { "id": "MONDO:0013158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013158", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6", "description": "" }, { "id": "MIM:613154", "resource": "MIM", "url": "https://www.omim.org/entry/613154", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6" } ], "evidence": [ { "id": "613154", "database": "MIM", "url": "https://www.omim.org/entry/613154" }, { "id": "LARGE1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/LARGE1/#!details" } ] } ], "snv": [ { "evidence": [ { "id": "rs2080759268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2080759268" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 122, "end_pos": 122, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->KSS).", "chr_id": "22", "chr_pos": "33650409", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N122", "disease": [ { "disease_id": "DOID:0110637", "recommended_name": { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDC1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "MDDGB6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "congenital muscular dystrophy LARGE-related", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "congenital muscular dystrophy type 1D", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6", "description": "" }, { "id": "DOID:0110637", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110637", "name": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy type B6", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "MDC1D", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "MDDGB6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "congenital muscular dystrophy large-related", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "congenital muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy, congenital, large-related", "description": "" }, { "id": "MONDO:0012138", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012138", "name": "muscular dystrophy, congenital, type 1D", "description": "" }, { "id": "MIM:608840", "resource": "MIM", "url": "https://www.omim.org/entry/608840", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs753419341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753419341" }, { "id": "rs753419341", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753419341" }, { "id": "rs753419341", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753419341" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 148, "end_pos": 148, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->HAS).", "chr_id": "22", "chr_pos": "33626293", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N148", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766104862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766104862" }, { "id": "rs766104862", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766104862" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 148, "end_pos": 148, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "22", "chr_pos": "33626292", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N148", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95461", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95461" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 384, "end_pos": 384, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "22", "chr_pos": "33337783", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P384", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O95461", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95461" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 384, "end_pos": 384, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NSP->NST).", "chr_id": "22", "chr_pos": "33337783", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P384", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1383236787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1383236787" }, { "id": "rs1383236787", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1383236787" }, { "id": "rs1383236787", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1383236787#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 470, "end_pos": 470, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "22", "chr_pos": "33277122", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D470", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1159826012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159826012" }, { "id": "rs1159826012", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159826012" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 530, "end_pos": 530, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVG->NVS).", "chr_id": "22", "chr_pos": "33304371", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G530", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95461", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95461" }, { "id": "rs140257955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140257955" }, { "id": "rs140257955", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140257955" }, { "id": "rs140257955", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140257955" }, { "id": "rs140257955", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140257955#frequency_tab" }, { "id": "rs140257955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140257955" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 640, "end_pos": 640, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NFA->NFT).", "chr_id": "22", "chr_pos": "33277215", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A640", "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" } ] }, { "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "O95461", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95461" }, { "id": "rs1255313940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1255313940" }, { "id": "rs1255313940", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1255313940" }, { "id": "rs1255313940", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1255313940#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 713, "end_pos": 713, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DIT->NIT).", "chr_id": "22", "chr_pos": "33274561", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D713", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs267606234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606234" }, { "id": "rs267606234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606234" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 737, "end_pos": 737, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DMS->NMS).", "chr_id": "22", "chr_pos": "33274489", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D737", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1257052673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257052673" }, { "id": "rs1257052673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257052673" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 749, "end_pos": 749, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YLT->NLT).", "chr_id": "22", "chr_pos": "33274453", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y749", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95461", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95461" }, { "id": "rs771323307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771323307" }, { "id": "rs771323307", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771323307" }, { "id": "rs771323307", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771323307" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 78, "end_pos": 78, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "22", "chr_pos": "33650543", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A78", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1386315054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386315054" }, { "id": "rs1386315054", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1386315054#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 97, "end_pos": 97, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->KHS).", "chr_id": "22", "chr_pos": "33650484", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N97", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1188574828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1188574828" }, { "id": "rs1188574828", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1188574828#frequency_tab" }, { "id": "rs1188574828", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1188574828" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 97, "end_pos": 97, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->SHS).", "chr_id": "22", "chr_pos": "33650485", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N97", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 242, "end_pos": 244, "sequence_org": "DTD", "sequence_mut": "NNN", "comment": "Loss of function, but does not abolish subcellular location.", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" }, { "database": "PubMed", "id": "15661757", "url": "https://glygen.org/publication/PubMed/15661757" } ] }, { "start_pos": 242, "end_pos": 244, "sequence_org": "DTD", "sequence_mut": "NTN", "comment": "Glucuronyltransferase activity is present while xylosyltransferase activity is abolished.", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" }, { "database": "PubMed", "id": "22223806", "url": "https://glygen.org/publication/PubMed/22223806" } ] }, { "start_pos": 334, "end_pos": 336, "sequence_org": "DQD", "sequence_mut": "NNN", "comment": "Loss of function, but does not abolish subcellular location.", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" }, { "database": "PubMed", "id": "15661757", "url": "https://glygen.org/publication/PubMed/15661757" } ] }, { "start_pos": 563, "end_pos": 565, "sequence_org": "DID", "sequence_mut": "NIN", "comment": "Xylosyltransferase activity is present while glucuronyltransferase activity is abolished.", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" }, { "database": "PubMed", "id": "22223806", "url": "https://glygen.org/publication/PubMed/22223806" } ] }, { "start_pos": 563, "end_pos": 565, "sequence_org": "DID", "sequence_mut": "NNN", "comment": "Loss of function and abolishes subcellular location.", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" }, { "database": "PubMed", "id": "15661757", "url": "https://glygen.org/publication/PubMed/15661757" } ] } ], "expression_tissue": [], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "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": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "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": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95461" } ], "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": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "common_name": "Human" } ], "gene": [ { "name": "LARGE1", "url": "https://www.uniprot.org/uniprot/O95461", "locus": { "chromosome": "22", "start_pos": 652920, "end_pos": 4953, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_856", "url": "https://www.ensembl.org/id/LRG_856" } ] } } ], "crossref": [ { "id": "ENSG00000133424", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133424", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95461", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95461", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "2.4.1.B80", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.4.1.B80&UniProtAcc=O95461", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "2.4.2.B18", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.4.2.B18&UniProtAcc=O95461", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "GT49", "url": "http://www.cazy.org/GT49.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "GT8", "url": "http://www.cazy.org/GT8.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "cd06431", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06431", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL2146300", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2146300", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "LARGE1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=LARGE1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9215", "url": "https://www.ncbi.nlm.nih.gov/gene/9215", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6511", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6511", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95461", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95461*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002495", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002495", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029044", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029044", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9215", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9215", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603590", "url": "http://www.omim.org/entry/603590", "database": "MIM", "categories": [ "Other" ] }, { "id": "608840", "url": "http://www.omim.org/entry/608840", "database": "MIM", "categories": [ "Other" ] }, { "id": "613154", "url": "http://www.omim.org/entry/613154", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95461", "url": "https://www.nextprot.org/entry/NX_O95461", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "GWNKVSY", "url": "https://omabrowser.org/oma/group/GWNKVSY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1363389at2759", "url": "http://www.orthodb.org/?query=1363389at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12270", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12270", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12270:SF48", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12270:SF48", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7UI6", "url": "https://www.rcsb.org/structure/7UI6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7UI7", "url": "https://www.rcsb.org/structure/7UI7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7ZVJ", "url": "https://www.rcsb.org/structure/7ZVJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01501", "url": "http://pfam.xfam.org/family/PF01501", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13896", "url": "http://pfam.xfam.org/family/PF13896", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95461", "url": "https://pharos.nih.gov/targets/O95461", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95461", "url": "http://purl.obolibrary.org/obo/PR_O95461", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5083627", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5083627", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "57336", "url": "https://www.rhea-db.org/rhea/57336", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "67924", "url": "https://www.rhea-db.org/rhea/67924", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "68368", "url": "https://www.rhea-db.org/rhea/68368", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A6Q8PF10", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF10", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF10-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF10-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF85", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF85", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF85-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF85-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFT0", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFT0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFT0-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFT0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFW0", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFW0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFW0-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFW0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFY8", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFY8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFY8-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFY8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG57", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG57", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG57-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG57-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHF1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHF1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHF1-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHF1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHK1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHK1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHK1-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHK1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QY08", "url": "https://www.uniprot.org/uniprot/B0QY08", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QY08-1", "url": "https://www.uniprot.org/uniprot/B0QY08-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYZ8", "url": "https://www.uniprot.org/uniprot/B0QYZ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYZ8-1", "url": "https://www.uniprot.org/uniprot/B0QYZ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYZ9", "url": "https://www.uniprot.org/uniprot/B0QYZ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYZ9-1", "url": "https://www.uniprot.org/uniprot/B0QYZ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95461-1", "url": "https://www.uniprot.org/uniprot/O95461-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95461-2", "url": "https://www.uniprot.org/uniprot/O95461-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GY39", "url": "https://www.uniprot.org/uniprot/V9GY39", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GY39-1", "url": "https://www.uniprot.org/uniprot/V9GY39-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GY56", "url": "https://www.uniprot.org/uniprot/V9GY56", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GY56-1", "url": "https://www.uniprot.org/uniprot/V9GY56-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYK8", "url": "https://www.uniprot.org/uniprot/V9GYK8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYK8-1", "url": "https://www.uniprot.org/uniprot/V9GYK8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X5DRG1", "url": "https://www.uniprot.org/uniprot/X5DRG1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X5DRG1-1", "url": "https://www.uniprot.org/uniprot/X5DRG1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS", "length": 756, "header": "sp|O95461-1|LARG1_HUMAN Isoform 1 of Xylosyl- and glucuronyltransferase LARGE1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PF10-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRALQITWNTLS", "length": 587, "header": "tr|A0A6Q8PF10-1|A0A6Q8PF10_HUMAN Computationally mapped isoform of LARGE xylosyl- and glucuronyltransferase 1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33293143, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674543.1", "url": "https://www.ensembl.org/id/ENST00000674543.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501590.1", "url": "https://www.ensembl.org/id/ENSP00000501590.1" } ] } }, { "isoform_ac": "A0A6Q8PF85-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRSMEMHGIDFLVIVRIKWAF", "length": 503, "header": "tr|A0A6Q8PF85-1|A0A6Q8PF85_HUMAN Computationally mapped isoform of LARGE xylosyl- and glucuronyltransferase 1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33305568, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676031.1", "url": "https://www.ensembl.org/id/ENST00000676031.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501663.1", "url": "https://www.ensembl.org/id/ENSP00000501663.1" } ] } }, { "isoform_ac": "A0A6Q8PFT0-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS", "length": 707, "header": "tr|A0A6Q8PFT0-1|LARG1_HUMAN Computationally mapped isoform of Xylosyl- and glucuronyltransferase LARGE1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33274430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674789.1", "url": "https://www.ensembl.org/id/ENST00000674789.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501941.1", "url": "https://www.ensembl.org/id/ENSP00000501941.1" } ] } }, { "isoform_ac": "A0A6Q8PFW0-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS", "length": 663, "header": "tr|A0A6Q8PFW0-1|A0A6Q8PFW0_HUMAN Computationally mapped isoform of LARGE xylosyl- and glucuronyltransferase 1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33274430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676126.1", "url": "https://www.ensembl.org/id/ENST00000676126.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501966.1", "url": "https://www.ensembl.org/id/ENSP00000501966.1" } ] } }, { "isoform_ac": "A0A6Q8PFY8-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKDENGGRMY", "length": 270, "header": "tr|A0A6Q8PFY8-1|LARG1_HUMAN Computationally mapped isoform of Xylosyl- and glucuronyltransferase LARGE1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33563241, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000476315.2", "url": "https://www.ensembl.org/id/ENST00000476315.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000502006.1", "url": "https://www.ensembl.org/id/ENSP00000502006.1" } ] } }, { "isoform_ac": "A0A6Q8PG57-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS", "length": 714, "header": "tr|A0A6Q8PG57-1|A0A6Q8PG57_HUMAN Computationally mapped isoform of LARGE xylosyl- and glucuronyltransferase 1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33274430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674668.1", "url": "https://www.ensembl.org/id/ENST00000674668.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502103.1", "url": "https://www.ensembl.org/id/ENSP00000502103.1" } ] } }, { "isoform_ac": "A0A6Q8PHF1-1", "url": "", "sequence": { "sequence": "MREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS", "length": 688, "header": "tr|A0A6Q8PHF1-1|LARG1_HUMAN Computationally mapped isoform of Xylosyl- and glucuronyltransferase LARGE1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33650570, "end_pos": 33274430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675277.1", "url": "https://www.ensembl.org/id/ENST00000675277.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502702.1", "url": "https://www.ensembl.org/id/ENSP00000502702.1" } ] } }, { "isoform_ac": "A0A6Q8PHK1-1", "url": "", "sequence": { "sequence": "MLIWSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS", "length": 555, "header": "tr|A0A6Q8PHK1-1|A0A6Q8PHK1_HUMAN Computationally mapped isoform of LARGE xylosyl- and glucuronyltransferase 1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33572156, "end_pos": 33274430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674780.1", "url": "https://www.ensembl.org/id/ENST00000674780.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502772.1", "url": "https://www.ensembl.org/id/ENSP00000502772.1" } ] } }, { "isoform_ac": "B0QY08-1", "url": "", "sequence": { "sequence": "MLIWSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENFFMACFVHGTLCLPPSHLILTSISWEEVIVL", "length": 259, "header": "tr|B0QY08-1|LARG1_HUMAN Computationally mapped isoform of Xylosyl- and glucuronyltransferase LARGE1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=2 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33572156, "end_pos": 33323508, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421768.2", "url": "https://www.ensembl.org/id/ENST00000421768.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000403841.2", "url": "https://www.ensembl.org/id/ENSP00000403841.2" } ] } }, { "isoform_ac": "B0QYZ8-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKC", "length": 135, "header": "tr|B0QYZ8-1|B0QYZ8_HUMAN Computationally mapped isoform of LARGE xylosyl- and glucuronyltransferase 1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33274430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413114", "url": "https://www.ensembl.org/id/ENST00000413114" }, { "database": "Ensembl Peptide", "id": "ENSP00000415546", "url": "https://www.ensembl.org/id/ENSP00000415546" } ] } }, { "isoform_ac": "B0QYZ9-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLK", "length": 377, "header": "tr|B0QYZ9-1|B0QYZ9_HUMAN Computationally mapped isoform of LARGE xylosyl- and glucuronyltransferase 1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=9 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33381919, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430220.7", "url": "https://www.ensembl.org/id/ENST00000430220.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000396277.3", "url": "https://www.ensembl.org/id/ENSP00000396277.3" } ] } }, { "isoform_ac": "O95461-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS", "length": 756, "header": "sp|O95461-1|LARG1_HUMAN Isoform 1 of Xylosyl- and glucuronyltransferase LARGE1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33274430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676070.1", "url": "https://www.ensembl.org/id/ENST00000676070.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502152.1", "url": "https://www.ensembl.org/id/ENSP00000502152.1" } ] } }, { "isoform_ac": "O95461-2", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS", "length": 704, "header": "sp|O95461-2|LARG1_HUMAN Isoform 2 of Xylosyl- and glucuronyltransferase LARGE1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33274430, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000402320.6", "url": "https://www.ensembl.org/id/ENST00000402320.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000385223.1", "url": "https://www.ensembl.org/id/ENSP00000385223.1" } ] } }, { "isoform_ac": "V9GY39-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFSFDFSQTLSPIISCKTTVPNTCL", "length": 648, "header": "tr|V9GY39-1|V9GY39_HUMAN Computationally mapped isoform of LARGE xylosyl- and glucuronyltransferase 1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33166766, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610186.6", "url": "https://www.ensembl.org/id/ENST00000610186.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000476364.2", "url": "https://www.ensembl.org/id/ENSP00000476364.2" } ] } }, { "isoform_ac": "V9GY56-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDSFDFSQTLSPIISCKTTVPNTCL", "length": 506, "header": "tr|V9GY56-1|LARG1_HUMAN Computationally mapped isoform of Xylosyl- and glucuronyltransferase LARGE1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33166766, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000609799.6", "url": "https://www.ensembl.org/id/ENST00000609799.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000476415.2", "url": "https://www.ensembl.org/id/ENSP00000476415.2" } ] } }, { "isoform_ac": "V9GYK8-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLSFDFSQTLSPIISCKTTVPNTCL", "length": 599, "header": "tr|V9GYK8-1|V9GYK8_HUMAN Computationally mapped isoform of LARGE xylosyl- and glucuronyltransferase 1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33166766, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000608642.6", "url": "https://www.ensembl.org/id/ENST00000608642.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000476866.2", "url": "https://www.ensembl.org/id/ENSP00000476866.2" } ] } }, { "isoform_ac": "X5DRG1-1", "url": "", "sequence": { "sequence": "MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENAPDAGGHLQALGGAHQPGPLPVRRRGPAVPPLRTGL", "length": 465, "header": "tr|X5DRG1-1|LARG1_HUMAN Computationally mapped isoform of Xylosyl- and glucuronyltransferase LARGE1 OS=Homo sapiens OX=9606 GN=LARGE1 PE=1 SV=1 CANONICAL=O95461-1" }, "locus": { "chromosome": "22", "start_pos": 33761476, "end_pos": 33304400, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675382.1", "url": "https://www.ensembl.org/id/ENST00000675382.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501800.1", "url": "https://www.ensembl.org/id/ENSP00000501800.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "O95461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95461#ptm_processing" }, { "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": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 148, "start_aa": "Asn", "end_pos": 148, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn148", "evidence": [ { "id": "O95461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95461#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 272, "start_aa": "Asn", "end_pos": 272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn272", "evidence": [ { "id": "O95461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95461#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 97, "start_aa": "Asn", "end_pos": 97, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn97", "evidence": [ { "id": "O95461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95461#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.", "journal": "Developmental cell", "date": "2001", "authors": "Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "11709191", "url": "https://glygen.org/publication/PubMed/11709191" } ] }, { "title": "Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.", "journal": "Human molecular genetics", "date": "2003", "authors": "Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" }, { "database": "Reactome", "id": "R-HSA-5083627", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5083627" } ], "reference": [ { "type": "PubMed", "id": "12966029", "url": "https://glygen.org/publication/PubMed/12966029" } ] }, { "title": "Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "14699049", "url": "https://glygen.org/publication/PubMed/14699049" } ] }, { "title": "A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Hiruma T, Togayachi A, Okamura K, Sato T, Kikuchi N, Kwon YD, Nakamura A, Fujimura K, Gotoh M, Tachibana K, Ishizuka Y, Noce T, Nakanishi H, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "14724282", "url": "https://glygen.org/publication/PubMed/14724282" } ] }, { "title": "Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.", "journal": "Human molecular genetics", "date": "2005", "authors": "Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "reference": [ { "type": "PubMed", "id": "15661757", "url": "https://glygen.org/publication/PubMed/15661757" } ] }, { "title": "LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Fujimura K, Sawaki H, Sakai T, Hiruma T, Nakanishi N, Sato T, Ohkura T, Narimatsu H", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "reference": [ { "type": "PubMed", "id": "15752776", "url": "https://glygen.org/publication/PubMed/15752776" } ] }, { "title": "Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies.", "journal": "Glycobiology", "date": "2005", "authors": "Grewal PK, McLaughlan JM, Moore CJ, Browning CA, Hewitt JE", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "reference": [ { "type": "PubMed", "id": "15958417", "url": "https://glygen.org/publication/PubMed/15958417" } ] }, { "title": "Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.", "journal": "Annals of neurology", "date": "2008", "authors": "Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" }, { "database": "Reactome", "id": "R-HSA-5083627", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5083627" } ], "reference": [ { "type": "PubMed", "id": "19067344", "url": "https://glygen.org/publication/PubMed/19067344" } ] }, { "title": "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.", "journal": "Neurology", "date": "2009", "authors": "Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" }, { "database": "Reactome", "id": "R-HSA-5083627", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5083627" } ], "reference": [ { "type": "PubMed", "id": "19299310", "url": "https://glygen.org/publication/PubMed/19299310" } ] }, { "title": "Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2009", "authors": "Bao X, Kobayashi M, Hatakeyama S, Angata K, Gullberg D, Nakayama J, Fukuda MN, Fukuda M", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "reference": [ { "type": "PubMed", "id": "19587235", "url": "https://glygen.org/publication/PubMed/19587235" } ] }, { "title": "Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Hara Y, Kanagawa M, Kunz S, Yoshida-Moriguchi T, Satz JS, Kobayashi YM, Zhu Z, Burden SJ, Oldstone MB, Campbell KP", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "reference": [ { "type": "PubMed", "id": "21987822", "url": "https://glygen.org/publication/PubMed/21987822" } ] }, { "title": "Congenital muscular dystrophies: a brief review.", "journal": "Seminars in pediatric neurology", "date": "2011", "authors": "Bertini E, D'Amico A, Gualandi F, Petrini S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "22172424", "url": "https://glygen.org/publication/PubMed/22172424" } ] }, { "title": "Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE.", "journal": "Science (New York, N.Y.)", "date": "2012", "authors": "Inamori K, Yoshida-Moriguchi T, Hara Y, Anderson ME, Yu L, Campbell KP", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" }, { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "22223806", "url": "https://glygen.org/publication/PubMed/22223806" } ] }, { "title": "Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.", "journal": "American journal of human genetics", "date": "2012", "authors": "Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "22958903", "url": "https://glygen.org/publication/PubMed/22958903" } ] }, { "title": "Xylosyl- and glucuronyltransferase functions of LARGE in alpha-dystroglycan modification are conserved in LARGE2.", "journal": "Glycobiology", "date": "2013", "authors": "Inamori K, Hara Y, Willer T, Anderson ME, Zhu Z, Yoshida-Moriguchi T, Campbell KP", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" }, { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "23125099", "url": "https://glygen.org/publication/PubMed/23125099" } ] }, { "title": "The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Wells L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "23329833", "url": "https://glygen.org/publication/PubMed/23329833" } ] }, { "title": "Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan.", "journal": "American journal of human genetics", "date": "2013", "authors": "Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC, Stemple D, Lin YY, Muntoni F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "23453667", "url": "https://glygen.org/publication/PubMed/23453667" } ] }, { "title": "SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.", "journal": "Science (New York, N.Y.)", "date": "2013", "authors": "Yoshida-Moriguchi T, Willer T, Anderson ME, Venzke D, Whyte T, Muntoni F, Lee H, Nelson SF, Yu L, Campbell KP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "23929950", "url": "https://glygen.org/publication/PubMed/23929950" } ] }, { "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": "Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.", "journal": "Journal of neuropathology and experimental neurology", "date": "2014", "authors": "Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, Bonnemann CG", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "reference": [ { "type": "PubMed", "id": "24709677", "url": "https://glygen.org/publication/PubMed/24709677" } ] }, { "title": "Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.", "journal": "Nat. Commun.", "date": "2014", "authors": "Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Trigg SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M, Iakoucheva LM", "evidence": [ { "database": "UniProtKB", "id": "X5DRG1", "url": "https://www.uniprot.org/uniprot/X5DRG1" } ], "reference": [ { "type": "PubMed", "id": "24722188", "url": "https://glygen.org/publication/PubMed/24722188" } ] }, { "title": "POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.", "journal": "Human molecular genetics", "date": "2014", "authors": "Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "24925318", "url": "https://glygen.org/publication/PubMed/24925318" } ] }, { "title": "Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of alpha-dystroglycan in cells and tissues.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Inamori K, Willer T, Hara Y, Venzke D, Anderson ME, Clarke NF, Guicheney P, Bonnemann CG, Moore SA, Campbell KP", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" }, { "database": "Reactome", "id": "R-HSA-5173105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105" } ], "reference": [ { "type": "PubMed", "id": "25138275", "url": "https://glygen.org/publication/PubMed/25138275" } ] }, { "title": "B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan.", "journal": "eLife", "date": "2014", "authors": "Praissman JL, Live DH, Wang S, Ramiah A, Chinoy ZS, Boons GJ, Moremen KW, Wells L", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "reference": [ { "type": "PubMed", "id": "25279697", "url": "https://glygen.org/publication/PubMed/25279697" } ] }, { "title": "The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation.", "journal": "eLife", "date": "2014", "authors": "Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, Beltran Valero de Bernabe D, Yu L, Wright KM, Campbell KP", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "reference": [ { "type": "PubMed", "id": "25279699", "url": "https://glygen.org/publication/PubMed/25279699" } ] }, { "title": "Common fragile sites (CFS) and extremely large CFS genes are targets for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma.", "journal": "Genes, chromosomes & cancer", "date": "2017", "authors": "Gao G, Johnson SH, Vasmatzis G, Pauley CE, Tombers NM, Kasperbauer JL, Smith DI", "evidence": [ { "database": "RefSeq", "id": "NP_004728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728" } ], "reference": [ { "type": "PubMed", "id": "27636103", "url": "https://glygen.org/publication/PubMed/27636103" } ] }, { "title": "Exogenous expression of the glycosyltransferase LARGE1 restores alpha-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma.", "journal": "Skeletal muscle", "date": "2019", "authors": "Beltran D, Anderson ME, Bharathy N, Settelmeyer TP, Svalina MN, Bajwa Z, Shern JF, Gultekin SH, Cuellar MA, Yonekawa T, Keller C, Campbell KP", "evidence": [ { "database": "RefSeq", "id": "NP_004728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728" } ], "reference": [ { "type": "PubMed", "id": "31054580", "url": "https://glygen.org/publication/PubMed/31054580" } ] }, { "title": "POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.", "journal": "eLife", "date": "2020", "authors": "Walimbe AS, Okuma H, Joseph S, Yang T, Yonekawa T, Hord JM, Venzke D, Anderson ME, Torelli S, Manzur A, Devereaux M, Cuellar M, Prouty S, Ocampo Landa S, Yu L, Xiao J, Dixon JE, Muntoni F, Campbell KP", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "reference": [ { "type": "PubMed", "id": "32975514", "url": "https://glygen.org/publication/PubMed/32975514" } ] }, { "title": "Clinical significance of LARGE1 in progression of liver cancer and the underlying mechanism.", "journal": "Gene", "date": "2021", "authors": "Wang M, Tao H, Huang P", "evidence": [ { "database": "RefSeq", "id": "NP_004728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728" } ], "reference": [ { "type": "PubMed", "id": "33588034", "url": "https://glygen.org/publication/PubMed/33588034" } ] }, { "title": "The Origins and Future of Sentinel: An Early-Warning System for Pandemic Preemption and Response.", "journal": "Viruses", "date": "2021", "authors": "Botti-Lodovico Y, Nair P, Nosamiefan D, Stremlau M, Schaffner S, Agignoae SV, Aiyepada JO, Ajogbasile FV, Akpede GO, Alhasan F, Andersen KG, Asogun DA, Ayodeji OO, Badiane AS, Barnes K, Bauer MR, Bell-Kareem A, Benard ME, Benevolence EO, Blessing O, Boehm CK, Boisen ML, Bond NG, Branco LM, Butts MJ, Carter A, Colubri A, Deme AB, DeRuff KC, Diedhiou Y, Edamhande AP, Elhamoumi S, Engel EJ, Eromon P, Fallah M, Folarin OA, Fry B, Garry R, Gaye A, Gbakie M, Gevao SM, Gionet G, Gladden-Young A, Goba A, Gomis JF, Happi AN, Houghton M, Ihekwuazu C, Iruolagbe CO, Jackson J, Jalloh S, Johnson J, Kanneh L, Kayode A, Kemball M, Kingsley OC, Koroma V, Kotliar D, Mehta S, Metsky HC, Michael A, Mirhashemi ME, Modjarrad K, Momoh M, Myhrvold CA, Naregose OG, Ndiaye T, Ndiaye M, Ndiaye A, Normandin E, Odia I, Oguzie JU, Okogbenin SA, Okokhere PO, Okolie J, Olawoye IB, Olumade TJ, Oluniyi PE, Omoregie O, Park DJ, Paye MF, Petros B, Philippakis AA, Priscilla A, Ricks A, Rimoin A, Sandi JD, Schieffelin JS, Schreiber M, Seck MC, Siddiqui S, Siddle K, Smither AR, Sy M, Sy N, Tomkins-Tinch CH, Tomori O, Ugwu C, Uwanibe JN, Uyigue EA, Victoria DI, Vinze A, Vodzak ME, Welch N, Wurie HI, Zoumarou D, Grant DS, Ndiaye D, MacInnis B, Sabeti PC, Happi C", "evidence": [ { "database": "RefSeq", "id": "NP_004728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004728" } ], "reference": [ { "type": "PubMed", "id": "34452470", "url": "https://glygen.org/publication/PubMed/34452470" } ] }, { "title": "The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1999", "authors": "Peyrard M, Seroussi E, Sandberg-Nordqvist A C, Xie Y G, Han F Y, Fransson I, Collins J, Dunham I, Kost-Alimova M, Imreh S, Dumanski J P", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "reference": [ { "type": "PubMed", "id": "9892679", "url": "https://glygen.org/publication/PubMed/9892679" } ] } ], "pathway": [ { "id": "hsa:9215", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9215", "resource": "KEGG Pathway" }, { "id": "R-HSA-5083627", "name": "Defective LARGE causes MDDGA6 and MDDGB6", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5083627", "resource": "Reactome", "description": "Defective LARGE causes MDDGA6 and MDDGB6" }, { "id": "R-HSA-5173105", "name": "O-linked glycosylation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5173105", "resource": "Reactome", "description": "O-linked glycosylation" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K618-1", "protein_name": "LARGE xylosyl- and glucuronyltransferase 1", "gene_name": "Large1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLGICRGRRKFLAASLTLLCIPALTWIYLFAGSLEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRVREVEEENRALRRQLSLAQGQSPAHRRGNHSKTYSMEEGTGDSENQRAGIVAGNSSECGQQPAVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSETDVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEFEPSADHTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRQNVGYHIVYKEGQFYPVNFLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYQVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDAQEYEFTVLPNAYMIHMPHAPSFDITKFRSNKQYRVCLKTLKEEFQQDMSRRYGFAALKYLTAENNS", "length": 755 }, "evidence": [ { "id": "O95461", "url": "https://omabrowser.org/oma/group/O95461/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "A0A480F6A1-1", "protein_name": "LARGE xylosyl- and glucuronyltransferase 1", "gene_name": "LARGE1", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MLGICRGRRKFLAASLTLLCIPAITWLYLFAGSLEDGKPVSLSPLESQPHSPRYTASSQRDRESLELRMREVEEENRALRRQLSLAQGRGHRRGNHSRTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPAKLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPASDNTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMGRHNVAYHIVYKEGQFYPVNLLRNVAMKHVGTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDAQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS", "length": 754 }, "evidence": [ { "id": "O95461", "url": "https://omabrowser.org/oma/group/O95461/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "Q9Z1M7-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE1", "gene_name": "Large1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLGICRGRRKFLAASLTLLCIPAITWIYLFAGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRVREVEEENRALRRQLSLAQGQSPAHHRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPAVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSETDVNNENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEFEPSADNTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRQNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYQVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDAQEYEFTVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS", "length": 756 }, "evidence": [ { "id": "45920862", "url": "http://www.informatics.jax.org/homology/45920862", "database": "MGI" }, { "id": "O95461", "url": "https://omabrowser.org/oma/group/O95461/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "UDP-glycosyltransferase activity", "id": "GO:0008194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008194", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "xylosyltransferase activity", "id": "GO:0042285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042285", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "acetylglucosaminyltransferase activity", "id": "GO:0008375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008375", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "glycosyltransferase activity", "id": "GO:0016757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016757", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "glucuronosyltransferase activity", "id": "GO:0015020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015020", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "UDP-xylosyltransferase activity", "id": "GO:0035252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035252", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "hexosyltransferase activity", "id": "GO:0016758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016758", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 53, "go_terms": [ { "name": "N-acetylglucosamine metabolic process", "id": "GO:0006044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006044", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "skeletal muscle organ development", "id": "GO:0060538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060538", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "astrocyte differentiation", "id": "GO:0048708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048708", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "protein glycosylation", "id": "GO:0006486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006486", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "glycosphingolipid biosynthetic process", "id": "GO:0006688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006688", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "plasma membrane organization", "id": "GO:0007009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007009", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "post-translational protein modification", "id": "GO:0043687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043687", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051124", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "acetylcholine receptor signaling pathway", "id": "GO:0095500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0095500", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006493", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "glycoprotein biosynthetic process", "id": "GO:0009101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009101", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "retina layer formation", "id": "GO:0010842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010842", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "nerve development", "id": "GO:0021675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021675", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "protein O-linked mannosylation", "id": "GO:0035269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035269", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "neuromuscular process controlling posture", "id": "GO:0050884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050884", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "principal sensory nucleus of trigeminal nerve development", "id": "GO:0021740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021740", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "connective tissue development", "id": "GO:0061448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061448", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "striated muscle cell development", "id": "GO:0055002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055002", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "walking behavior", "id": "GO:0090659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090659", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "basement membrane organization", "id": "GO:0071711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071711", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "skeletal muscle fiber differentiation", "id": "GO:0098528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098528", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "reactive gliosis", "id": "GO:0150103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150103", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "multicellular organism reproduction", "id": "GO:0032504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032504", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "post-embryonic hindlimb morphogenesis", "id": "GO:0035129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035129", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" }, { "name": "localization of cell", "id": "GO:0051674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051674", "evidence": [ { "database": "UniProtKB", "id": "O95461", "url": "https://www.uniprot.org/uniprot/O95461" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 122, "end_pos": 124, "annotation": "n_glycosylation_sequon" }, { "start_pos": 148, "end_pos": 150, "annotation": "n_glycosylation_sequon" }, { "start_pos": 272, "end_pos": 274, "annotation": "n_glycosylation_sequon" }, { "start_pos": 754, "end_pos": 756, "annotation": "n_glycosylation_sequon" }, { "start_pos": 97, "end_pos": 99, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "57336", "name": "", "equation": "3-O-[beta-D-GlcA-(1->3)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6P7A1-1", "O95461-1", "Q8N3Y3-1", "Q9Z1M7-1", "Q5XPT3-1" ], "evidence": [ { "id": "57336", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/57336" } ] }, { "id": "67924", "name": "", "equation": "3-O-{(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n)-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein] + UDP-alpha-D-glucuronate = 3-O-{beta-D-GlcA-(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n)-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6P7A1-1", "O95461-1", "Q8N3Y3-1", "Q9Z1M7-1", "Q5XPT3-1" ], "evidence": [ { "id": "67924", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/67924" } ] }, { "id": "68368", "name": "", "equation": "3-O-{beta-D-GlcA-(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n)-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein] + UDP-alpha-D-xylose = 3-O-{(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n+1)-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6P7A1-1", "O95461-1", "Q8N3Y3-1", "Q9Z1M7-1", "Q5XPT3-1" ], "evidence": [ { "id": "68368", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68368" } ] }, { "id": "R-HSA-6785668", "name": "Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA", "equation": "", "summary": "Glycosyltransferase-like protein LARGE (MIM:603590) is a bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of a phosphorylated O-mannosyl trisaccharide, a structure present in alpha-dystroglycan (DAG1; MIM:128239) which plays a key role in skeletal muscle function and regeneration. LARGE contains two substrate-specific GT-domains and belongs to the CAZy glycosyltransferase families GT8 and GT49. Defects in LARGE result in hypoglycosylation of DAG1 and cause several congenital muscular dystrophies (CMDs). Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6; MIM:613154) is associated with brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life (Clement et al. 2008, Mercuri et al. 2009). Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6; MIM:608840) is associated with profound mental retardation, white matter changes and structural brain abnormalities (Longman et al. 2003). Several mutations are known (MIM:603590) and include W495R and S331F (Clement et al. 2008, Mercuri et al. 2009).", "cellular_location": "Golgi membrane, cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95461-1", "O43505-1" ], "evidence": [ { "id": "R-HSA-6785668", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785668" } ] }, { "id": "R-HSA-9638090", "name": "B4GAT1:LARGE transfers Xyl from UDP-Xyl to GlcA-Xyl-GlcA", "equation": "", "summary": "Glycosyltransferase-like protein LARGE (MIM:603590) is a bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of a phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a structure present in alpha-dystroglycan (DAG1) which plays a key role in skeletal muscle function and regeneration (Inamori et al. 2012, Inamori et al. 2013, Wells 2013). LARGE belongs to the CAZy glycosyltransferase families GT8 and GT49.", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95461-1", "O43505-1" ], "evidence": [ { "id": "R-HSA-9638090", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9638090" } ] }, { "id": "R-HSA-9638097", "name": "B4GAT1:LARGE transfers GlcA from UDP-GlcA to Xyl-GlcA", "equation": "", "summary": "Glycosyltransferase-like protein LARGE is a bifunctional glycosyltransferases with both xylosyltransferase and beta-1,3-glucuronyltransferase activities which can form polymeric Xyl-GlcA repeats. LARGE is involved in the physiological function of alpha-dystroglycan (DAG1) which plays a key role in skeletal muscle function and regeneration (Inamori et al. 2013, Wells 2013, Inamori et al. 2014).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95461-1", "O43505-1" ], "evidence": [ { "id": "R-HSA-9638097", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9638097" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O43505", "gene_name": "B4GAT1", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "O43505", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43505" } ] } ] }, { "uniprot_ac": "O95461", "gene_name": "LARGE1", "activity": [ { "ec_number": "2.4.-.-", "activity": "", "evidence": [ { "id": "O95461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95461" } ] }, { "ec_number": "2.4.2.-", "activity": "", "evidence": [ { "id": "O95461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95461" } ] }, { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "O95461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95461" } ] } ] }, { "uniprot_ac": "Q5XPT3", "gene_name": "Large2", "activity": [ { "ec_number": "2.4.-.-", "activity": "", "evidence": [ { "id": "Q5XPT3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XPT3" } ] }, { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q5XPT3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XPT3" } ] }, { "ec_number": "2.4.2.-", "activity": "", "evidence": [ { "id": "Q5XPT3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XPT3" } ] } ] }, { "uniprot_ac": "Q6P7A1", "gene_name": "Large2", "activity": [ { "ec_number": "2.4.2.-", "activity": "", "evidence": [ { "id": "Q6P7A1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P7A1" } ] }, { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q6P7A1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P7A1" } ] }, { "ec_number": "2.4.-.-", "activity": "", "evidence": [ { "id": "Q6P7A1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P7A1" } ] } ] }, { "uniprot_ac": "Q8N3Y3", "gene_name": "LARGE2", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q8N3Y3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N3Y3" } ] }, { "ec_number": "2.4.-.-", "activity": "", "evidence": [ { "id": "Q8N3Y3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N3Y3" } ] }, { "ec_number": "2.4.2.-", "activity": "", "evidence": [ { "id": "Q8N3Y3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N3Y3" } ] } ] }, { "uniprot_ac": "Q9Z1M7", "gene_name": "Large1", "activity": [ { "ec_number": "2.4.-.-", "activity": "", "evidence": [ { "id": "Q9Z1M7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z1M7" } ] }, { "ec_number": "2.4.2.-", "activity": "", "evidence": [ { "id": "Q9Z1M7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z1M7" } ] }, { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q9Z1M7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z1M7" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 97, 122, 148, 272 ], "o_linked_sites": [], "snv_sites": [ 78, 97, 122, 148, 384, 470, 530, 640, 713, 737, 749 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 122, "end_pos": 124 }, { "start_pos": 148, "end_pos": 150 }, { "start_pos": 272, "end_pos": 274 }, { "start_pos": 754, "end_pos": 756 }, { "start_pos": 97, "end_pos": 99 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 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_predicted", "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_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 11 } ], "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": 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_non_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 6 } ], "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": 31 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }