{ "uniprot_canonical_ac": "Q3V5L5-1", "uniprot_ac": "Q3V5L5", "uniprot_id": "MGT5B_HUMAN", "mass": { "chemical_mass": 89535.0, "monoisotopic_mass": 89535.0 }, "refseq": { "ac": "NP_001186101", "name": "alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform 3", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101" }, "gene_names": [ { "name": "MGAT5B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q3V5L5", "id": "Q3V5L5" }, { "name": "GnT-IX; GnT-VB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101", "id": "NP_001186101" }, { "name": "KIAA2008", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q3V5L5", "id": "Q3V5L5" }, { "name": "MGAT5B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101", "id": "NP_001186101" } ], "protein_names": [ { "name": "Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q3V5L5" }, { "name": "2.4.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3V5L5" }, { "name": "2.4.1.155", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3V5L5" }, { "name": "Alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3V5L5" }, { "name": "GNT-IX", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3V5L5" }, { "name": "GNT-Vb", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3V5L5" }, { "name": "GlcNAc-T Vb", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3V5L5" }, { "name": "Mannoside acetylglucosaminyltransferase 5B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3V5L5" }, { "name": "N-acetylglucosaminyl-transferase Vb", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3V5L5" }, { "name": "N-acetylglucosaminyltransferase IX; beta(1,6)-N-acetylglucosaminyltransferase V; mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B; mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B; hGnTVb; glcNAc-T Vb; N-acetylglucosaminyl-transferase Vb; mannoside acetylglucosaminyltransferase 5B; alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101", "id": "NP_001186101" }, { "name": "N-acetylglucosaminyltransferase IX", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3V5L5" }, { "name": "alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101", "id": "NP_001186101" }, { "name": "hGnTVb", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q3V5L5" } ], "function": [ { "annotation": "ENPP3 is a regulator of N-acetylglucosaminyltransferase GnT-IX (GnT-Vb)", "evidence": [ { "database": "RefSeq", "id": "NP_001186101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101" }, { "database": "PubMed", "id": "23960081", "url": "https://glygen.org/publication/PubMed/23960081" } ] }, { "annotation": "Following human GnT-IX and GnT-V transfection in COS cells, antibody specifically recognized GnT-IX, but not GnT-V, in the Golgi apparatus", "evidence": [ { "database": "RefSeq", "id": "NP_001186101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101" }, { "database": "PubMed", "id": "16413118", "url": "https://glygen.org/publication/PubMed/16413118" } ] }, { "annotation": "Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAc-beta1,2-Man-alpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAc-beta1,2-Man-alpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5#function" }, { "database": "PubMed", "id": "16606368", "url": "https://glygen.org/publication/PubMed/16606368" }, { "database": "PubMed", "id": "16857188", "url": "https://glygen.org/publication/PubMed/16857188" }, { "database": "PubMed", "id": "19846580", "url": "https://glygen.org/publication/PubMed/19846580" }, { "database": "PubMed", "id": "12941944", "url": "https://glygen.org/publication/PubMed/12941944" }, { "database": "PubMed", "id": "14617637", "url": "https://glygen.org/publication/PubMed/14617637" }, { "database": "PubMed", "id": "14623122", "url": "https://glygen.org/publication/PubMed/14623122" } ] }, { "annotation": "GnT-IX is responsible for the synthesis of a unique oligosaccharide structure in the brain", "evidence": [ { "database": "RefSeq", "id": "NP_001186101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101" }, { "database": "PubMed", "id": "12941944", "url": "https://glygen.org/publication/PubMed/12941944" } ] }, { "annotation": "N-linked beta(1,6) branching has a role in cell-cell adhesion, cellular motility and neoplasm invasiveness", "evidence": [ { "database": "RefSeq", "id": "NP_001186101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101" }, { "database": "PubMed", "id": "14561752", "url": "https://glygen.org/publication/PubMed/14561752" } ] }, { "annotation": "We found a strong correlation between serum GnT-V activity and HDL-C concentration in human subjects", "evidence": [ { "database": "RefSeq", "id": "NP_001186101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101" }, { "database": "PubMed", "id": "27659420", "url": "https://glygen.org/publication/PubMed/27659420" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1306131483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306131483" }, { "id": "rs1306131483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1306131483" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 127, "end_pos": 127, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->IVS).", "chr_id": "17", "chr_pos": "76902605", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866719004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866719004" }, { "id": "rs866719004", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866719004" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 148, "end_pos": 148, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "17", "chr_pos": "76902669", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K148", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1159920232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159920232" }, { "id": "rs1159920232", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159920232" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 561, "end_pos": 561, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HSS->NSS).", "chr_id": "17", "chr_pos": "76940498", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H561", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232839932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232839932" }, { "id": "rs1232839932", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232839932" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 73, "end_pos": 73, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KMS->NMS).", "chr_id": "17", "chr_pos": "76882188", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K73", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "66.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167889", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167889" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "62.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000167889", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167889" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "46.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167889", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167889" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "62.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167889", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167889" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "49.23", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000167889", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167889" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "54.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167889", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167889" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "59.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167889", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167889" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "46.45", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000167889", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167889" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "49.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167889", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167889" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "60.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167889", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167889" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q3V5L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q3V5L5" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q3V5L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q3V5L5" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q3V5L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q3V5L5" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q3V5L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q3V5L5" } ], "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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q3V5L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q3V5L5" } ], "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 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"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": "Q3V5L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q3V5L5" } ], "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": "Q3V5L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q3V5L5" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q3V5L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q3V5L5" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q3V5L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q3V5L5" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q3V5L5" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "Q3V5L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q3V5L5" } ], "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": 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"database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q3V5L5", "url": "http://purl.obolibrary.org/obo/PR_Q3V5L5", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001186101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "16921", "url": "https://www.rhea-db.org/rhea/16921", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "56252", "url": "https://www.rhea-db.org/rhea/56252", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "56256", "url": "https://www.rhea-db.org/rhea/56256", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "H3BQ65", "url": "https://www.uniprot.org/uniprot/H3BQ65", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BQ65-1", "url": "https://www.uniprot.org/uniprot/H3BQ65-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR20", "url": "https://www.uniprot.org/uniprot/H3BR20", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR20-1", "url": "https://www.uniprot.org/uniprot/H3BR20-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3V5L5-1", "url": "https://www.uniprot.org/uniprot/Q3V5L5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3V5L5-2", "url": "https://www.uniprot.org/uniprot/Q3V5L5-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3V5L5-5", "url": "https://www.uniprot.org/uniprot/Q3V5L5-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MITVNPDGKIMVRRCLVTLRPFRLFVLGIGFFTLCFLMTSLGGQFSARRLGDSPFTIRTEVMGGPESRGVLRKMSDLLELMVKRMDALARLENSSELHRAGGDLHFPADRMPPGAGLMERIQAIAQNVSDIAVKVDQILRHSLLLHSKVSEGRRDQCEAPSDPKFPDCSGKVEWMRARWTSDPCYAFFGVDGTECSFLIYLSEVEWFCPPLPWRNQTAAQRAPKPLPKVQAVFRSNLSHLLDLMGSGKESLIFMKKRTKRLTAQWALAAQRLAQKLGATQRDQKQILVHIGFLTEESGDVFSPRVLKGGPLGEMVQWADILTALYVLGHGLRVTVSLKELQSNLGVPPGRGSCPLTMPLPFDLIYTDYHGLQQMKRHMGLSFKKYRCRIRVIDTFGTEPAYNHEEYATLHGYRTNWGYWNLNPKQFMTMFPHTPDNSFMGFVSEELNETEKRLIKGGKASNMAVVYGKEASIWKLQGKEKFLGILNKYMEIHGTVYYESQRPPEVPAFVKNHGLLPQPEFQQLLRKAKLFIGFGFPYEGPAPLEAIANGCIFLQSRFSPPHSSLNHEFFRGKPTSREVFSQHPYAENFIGKPHVWTVDYNNSEEFEAAIKAIMRTQVDPYLPYEYTCEGMLERIHAYIQHQDFCRAPDPALPEAHAPQSPFVLAPNATHLEWARNTSLAPGAWPPAHALRAWLAVPGRACTDTCLDHGLICEPSFFPFLNSQDAFLKLQVPCDSTESEMNHLYPAFAQPGQECYLQKEPLLFSCAGSNTKYRRLCPCRDFRKGQVALCQGCL", "length": 792, "header": "sp|Q3V5L5-1|MGT5B_HUMAN Isoform 1 of Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B OS=Homo sapiens OX=9606 GN=MGAT5B PE=1 SV=2 CANONICAL=Q3V5L5-1" }, "isoforms": [ { "isoform_ac": "H3BQ65-1", "url": "", "sequence": { "sequence": "MHSFVKHLCSRYVVERQGTMALPALLTRLLPLRRLFVLGIGFFTLCFLMTSLGGQFSARRLGDSPFTIRTEVMGGPESRGVLRKMSDLLELMVKRMDALARLENSSELHRAGGDLHFPADRMPPGAGLMERIQAIAQNVSDIAVKVDQILRHSLLLHSKVSEGRRDQCEAPSDPKFPDCSGKVEWMRARWTSDPCYAFFGVDGTECSFLIYLSEVEWFCPPLPWRNQTAAQRAPKPLPKVQAVFRSNLSHLLDLMGSGKESLIFMKKRTKRLTAQWALAAQRLAQKLGATQRDQKQILVHIGFLTEESGDVFSPRVLKGGPLGEMVQWADILTALYVLGHGLRVTVSLKELQSNLGVPPGRGSCPLTMPLPFDLIYTDYHGLQQMKRHMGLSFKKYRCRIRVIDTFGTEPAYNHEEYATLHGYRTNWGYWNLNPKQFMTMFREGEVPGHPEQIHGDPWHRVLREPAAPRGASLCEEPRPLTAA", "length": 483, "header": "tr|H3BQ65-1|H3BQ65_HUMAN Computationally mapped isoform of alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase OS=Homo sapiens OX=9606 GN=MGAT5B PE=1 SV=1 CANONICAL=Q3V5L5-1" }, "locus": { "chromosome": "17", "start_pos": 76938112, "end_pos": 76872750, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565043.5", "url": "https://www.ensembl.org/id/ENST00000565043.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455631.1", "url": "https://www.ensembl.org/id/ENSP00000455631.1" } ] } }, { "isoform_ac": "H3BR20-1", "url": "", "sequence": { "sequence": "MITVNPDGKIMVRRCLVTLRPFRLFVLGIGFFTLCFLMTSLGGQFSARRLGDSPFTIRTEVMGGPESRGVLRKMSDLLELMVKRMDALARLENSSELHRAGGDLHFPADR", "length": 110, "header": "tr|H3BR20-1|MGT5B_HUMAN Computationally mapped isoform of Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B OS=Homo sapiens OX=9606 GN=MGAT5B PE=1 SV=1 CANONICAL=Q3V5L5-1" }, "locus": { "chromosome": "17", "start_pos": 76882299, "end_pos": 76869030, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565675.1", "url": "https://www.ensembl.org/id/ENST00000565675.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457614.1", "url": "https://www.ensembl.org/id/ENSP00000457614.1" } ] } }, { "isoform_ac": "Q3V5L5-1", "url": "", "sequence": { "sequence": "MITVNPDGKIMVRRCLVTLRPFRLFVLGIGFFTLCFLMTSLGGQFSARRLGDSPFTIRTEVMGGPESRGVLRKMSDLLELMVKRMDALARLENSSELHRAGGDLHFPADRMPPGAGLMERIQAIAQNVSDIAVKVDQILRHSLLLHSKVSEGRRDQCEAPSDPKFPDCSGKVEWMRARWTSDPCYAFFGVDGTECSFLIYLSEVEWFCPPLPWRNQTAAQRAPKPLPKVQAVFRSNLSHLLDLMGSGKESLIFMKKRTKRLTAQWALAAQRLAQKLGATQRDQKQILVHIGFLTEESGDVFSPRVLKGGPLGEMVQWADILTALYVLGHGLRVTVSLKELQSNLGVPPGRGSCPLTMPLPFDLIYTDYHGLQQMKRHMGLSFKKYRCRIRVIDTFGTEPAYNHEEYATLHGYRTNWGYWNLNPKQFMTMFPHTPDNSFMGFVSEELNETEKRLIKGGKASNMAVVYGKEASIWKLQGKEKFLGILNKYMEIHGTVYYESQRPPEVPAFVKNHGLLPQPEFQQLLRKAKLFIGFGFPYEGPAPLEAIANGCIFLQSRFSPPHSSLNHEFFRGKPTSREVFSQHPYAENFIGKPHVWTVDYNNSEEFEAAIKAIMRTQVDPYLPYEYTCEGMLERIHAYIQHQDFCRAPDPALPEAHAPQSPFVLAPNATHLEWARNTSLAPGAWPPAHALRAWLAVPGRACTDTCLDHGLICEPSFFPFLNSQDAFLKLQVPCDSTESEMNHLYPAFAQPGQECYLQKEPLLFSCAGSNTKYRRLCPCRDFRKGQVALCQGCL", "length": 792, "header": "sp|Q3V5L5-1|MGT5B_HUMAN Isoform 1 of Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B OS=Homo sapiens OX=9606 GN=MGAT5B PE=1 SV=2 CANONICAL=Q3V5L5-1" }, "locus": { "chromosome": "17", "start_pos": 76948835, "end_pos": 76869030, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569840.7", "url": "https://www.ensembl.org/id/ENST00000569840.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000456037.2", "url": "https://www.ensembl.org/id/ENSP00000456037.2" } ] } }, { "isoform_ac": "Q3V5L5-2", "url": "", "sequence": { "sequence": "MHSFVKHLCSRYVVERQGTMALPALLTRLLPLRRLFVLGIGFFTLCFLMTSLGGQFSARRLGDSPFTIRTEVMGGPESRGVLRKMSDLLELMVKRMDALARLENSSELHRAGGDLHFPADRMPPGAGLMERIQAIAQNVSDIAVKVDQILRHSLLLHSKVSEGRRDQCEAPSDPKFPDCSGKVEWMRARWTSDPCYAFFGVDGTECSFLIYLSEVEWFCPPLPWRNQTAAQRAPKPLPKVQAVFRSNLSHLLDLMGSGKESLIFMKKRTKRLTAQWALAAQRLAQKLGATQRDQKQILVHIGFLTEESGDVFSPRVLKGGPLGEMVQWADILTALYVLGHGLRVTVSLKELQSNLGVPPGRGSCPLTMPLPFDLIYTDYHGLQQMKRHMGLSFKKYRCRIRVIDTFGTEPAYNHEEYATLHGYRTNWGYWNLNPKQFMTMFPHTPDNSFMGFVSEELNETEKRLIKGGKASNMAVVYGKEASIWKGKEKFLGILNKYMEIHGTVYYESQRPPEVPAFVKNHGLLPQPEFQQLLRKAKLFIGFGFPYEGPAPLEAIANGCIFLQSRFSPPHSSLNHEFFRGKPTSREVFSQHPYAENFIGKPHVWTVDYNNSEEFEAAIKAIMRTQVDPYLPYEYTCEGMLERIHAYIQHQDFCRAPDPALPEAHAPQSPFVLAPNATHLEWARNTSLAPGAWPPAHALRAWLAVPGRACTDTCLDHGLICEPSFFPFLNSQDAFLKLQVPCDSTESEMNHLYPAFAQPGQECYLQKEPLLFSCAGSNTKYRRLCPCRDFRKGQVALCQGCL", "length": 801, "header": "sp|Q3V5L5-2|MGT5B_HUMAN Isoform 2 of Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B OS=Homo sapiens OX=9606 GN=MGAT5B PE=1 SV=2 CANONICAL=Q3V5L5-1" }, "locus": { "chromosome": "17", "start_pos": 76948835, "end_pos": 76872750, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428789.6", "url": "https://www.ensembl.org/id/ENST00000428789.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000391227.2", "url": "https://www.ensembl.org/id/ENSP00000391227.2" } ] } }, { "isoform_ac": "Q3V5L5-5", "url": "", "sequence": { "sequence": "MITVNPDGKIMVRRCLVTLRPFRLFVLGIGFFTLCFLMTSLGGQFSARRLGDSPFTIRTEVMGGPESRGVLRKMSDLLELMVKRMDALARLENSSELHRAGGDLHFPADRMPPGAGLMERIQAIAQNVSDIAVKVDQILRHSLLLHSKVSEGRRDQCEAPSDPKFPDCSGKVEWMRARWTSDPCYAFFGVDGTECSFLIYLSEVEWFCPPLPWRNQTAAQRAPKPLPKVQAVFRSNLSHLLDLMGSGKESLIFMKKRTKRLTAQWALAAQRLAQKLGATQRDQKQILVHIGFLTEESGDVFSPRVLKGGPLGEMVQWADILTALYVLGHGLRVTVSLKELQSNLGVPPGRGSCPLTMPLPFDLIYTDYHGLQQMKRHMGLSFKKYRCRIRVIDTFGTEPAYNHEEYATLHGYRTNWGYWNLNPKQFMTMFPHTPDNSFMGFVSEELNETEKRLIKGGKASNMAVVYGKEASIWKGKEKFLGILNKYMEIHGTVYYESQRPPEVPAFVKNHGLLPQPEFQQLLRKAKLFIGFGFPYEGPAPLEAIANGCIFLQSRFSPPHSSLNHEFFRGKPTSREVFSQHPYAENFIGKPHVWTVDYNNSEEFEAAIKAIMRTQVDPYLPYEYTCEGMLERIHAYIQHQDFCRAPDPALPEAHAPQSPFVLAPNATHLEWARNTSLAPGAWPPAHALRAWLAVPGRACTDTCLDHGLICEPSFFPFLNSQDAFLKLQVPCDSTESEMNHLYPAFAQPGQECYLQKEPLLFSCAGSNTKYRRLCPCRDFRKGQVALCQGCL", "length": 790, "header": "sp|Q3V5L5-5|MGT5B_HUMAN Isoform 5 of Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B OS=Homo sapiens OX=9606 GN=MGAT5B PE=1 SV=2 CANONICAL=Q3V5L5-1" }, "locus": { "chromosome": "17", "start_pos": 76948835, "end_pos": 76869030, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000301618.8", "url": "https://www.ensembl.org/id/ENST00000301618.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000301618.4", "url": "https://www.ensembl.org/id/ENSP00000301618.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": "Q3V5L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3V5L5#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 129, "start_aa": "Ser", "end_pos": 129, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser129", "evidence": [ { "id": "Q3V5L5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3V5L5" }, { "id": "36240223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36240223" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular cloning and characterization of human GnT-IX, a novel beta1,6-N-acetylglucosaminyltransferase that is specifically expressed in the brain.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Inamori K, Endo T, Ide Y, Fujii S, Gu J, Honke K, Taniguchi N", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" }, { "database": "RefSeq", "id": "NP_001186101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101" } ], "reference": [ { "type": "PubMed", "id": "12941944", "url": "https://glygen.org/publication/PubMed/12941944" } ] }, { "title": "N-acetylglucosaminyltransferase V expression levels regulate cadherin-associated homotypic cell-cell adhesion and intracellular signaling pathways.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Guo HB, Lee I, Kamar M, Pierce M", "evidence": [ { "database": "RefSeq", "id": "NP_001186101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101" } ], "reference": [ { "type": "PubMed", "id": "14561752", "url": "https://glygen.org/publication/PubMed/14561752" } ] }, { "title": "N-Acetylglucosaminyltransferase IX acts on the GlcNAc beta 1,2-Man alpha 1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Inamori K, Endo T, Gu J, Matsuo I, Ito Y, Fujii S, Iwasaki H, Narimatsu H, Miyoshi E, Honke K, Taniguchi N", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "reference": [ { "type": "PubMed", "id": "14617637", "url": "https://glygen.org/publication/PubMed/14617637" } ] }, { "title": "A novel beta(1,6)-N-acetylglucosaminyltransferase V (GnT-VB).", "journal": "FEBS Lett.", "date": "2003", "authors": "Kaneko M., Zhang W., Osawa M., Lee J.-K., Lee I., Pierce M., Alvarez-Manilla G., Kamar M., Troupe K.", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "reference": [ { "type": "PubMed", "id": "14623122", "url": "https://glygen.org/publication/PubMed/14623122" } ] }, { "title": "Demonstration of the expression and the enzymatic activity of N-acetylglucosaminyltransferase IX in the mouse brain.", "journal": "Biochimica et biophysica acta", "date": "2006", "authors": "Inamori K, Mita S, Gu J, Mizuno-Horikawa Y, Miyoshi E, Dennis JW, Taniguchi N", "evidence": [ { "database": "RefSeq", "id": "NP_001186101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101" } ], "reference": [ { "type": "PubMed", "id": "16413118", "url": "https://glygen.org/publication/PubMed/16413118" } ] }, { "title": "N-acetylglucosaminyltransferase VB expression enhances beta1 integrin-dependent PC12 neurite outgrowth on laminin and collagen.", "journal": "J. Neurochem.", "date": "2006", "authors": "Lee J.-K., Lee I., Pierce M., Abbott K., Alvarez-Manilla G., Guo H.-B., Kamar M., Troupe K.", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "reference": [ { "type": "PubMed", "id": "16606368", "url": "https://glygen.org/publication/PubMed/16606368" } ] }, { "title": "Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb.", "journal": "Exp. Cell Res.", "date": "2006", "authors": "Lee I., Abbott K.L., Pierce M., Troupe K.", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "reference": [ { "type": "PubMed", "id": "16857188", "url": "https://glygen.org/publication/PubMed/16857188" } ] }, { "title": "Comparison of the substrate specificities and catalytic properties of the sister N-acetylglucosaminyltransferases, GnT-V and GnT-Vb (IX).", "journal": "Glycobiology", "date": "2010", "authors": "Alvarez-Manilla G, Troupe K, Fleming M, Martinez-Uribe E, Pierce M", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "reference": [ { "type": "PubMed", "id": "19846580", "url": "https://glygen.org/publication/PubMed/19846580" } ] }, { "title": "Identification of ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3) as a regulator of N-acetylglucosaminyltransferase GnT-IX (GnT-Vb).", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Korekane H, Park JY, Matsumoto A, Nakajima K, Takamatsu S, Ohtsubo K, Miyamoto Y, Hanashima S, Kanekiyo K, Kitazume S, Yamaguchi Y, Matsuo I, Taniguchi N", "evidence": [ { "database": "RefSeq", "id": "NP_001186101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101" } ], "reference": [ { "type": "PubMed", "id": "23960081", "url": "https://glygen.org/publication/PubMed/23960081" } ] }, { "title": "Hepatic aberrant glycosylation by N-acetylglucosaminyltransferase V accelerates HDL assembly.", "journal": "American journal of physiology. Gastrointestinal and liver physiology", "date": "2016", "authors": "Kamada Y, Kida S, Hirano KI, Yamaguchi S, Suzuki A, Hashimoto C, Kimura A, Sato M, Fujii H, Sobajima T, Yamamoto A, Ebisutani Y, Takamatsu S, Shinzaki S, Yoshida Y, Yamada M, Nagasaka H, Takehara T, Miyoshi E", "evidence": [ { "database": "RefSeq", "id": "NP_001186101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186101" } ], "reference": [ { "type": "PubMed", "id": "27659420", "url": "https://glygen.org/publication/PubMed/27659420" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q3V5L5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3V5L5" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] } ], "pathway": [ { "id": "hsa:146664", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:146664", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6A8E1-1", "protein_name": "alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase", "gene_name": "Mgat5b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MITVNPDGKIMVRRCLVTLRPFRLFVLGIGFFTLCFLMTSLGGQFSARRLGDSPFTIRTEVPGGPESRGALRKMSDLLELMMKRMDMLARLENSSELHRAASVAHLAADRLTPGASLIERIQAIAQNVSDIAVKVDQILRHSLILHSKVSEGRRDQCEAPSDPKFPDCSGKVEWMRARWTSDPCYAFFGVDGTECSFLIYLSEVEWFCPPLPWRNQTATRTAHKSLPRVQAMFRSNLSHLLELMGSGKESLIFMKKRTRRFTAQWTKAAKYLAQKLGDIRRDQKQILVHIGFLTEESGDVFSPRVLKGGPLGEMVQWADILAALYMLGHSLRVTVSLKELQSNLGVPPGRGNCPLTVPLPFDLIYTDYHGLQQMKQYMGLSFKKYRCRIRVIDTFGTEPAYNHEEYATLHGYRTNWGYWNLNPKQFMTMFPHTPDNSFMGFVSEELNETEKQLIKDGKASNMAVVYGKEASIWKLQGKEKFLAILNKYMEIHGTVYYESQRPPEVPAFVKNHGLLPQPEFQQLLRKAKLFIGFGFPYEGPAPLEAIANGCIFLQSRFSPPHSSLNHEFFRGKPTSREVFSQHPYAENFIGKPHVWTVDYNNSDEFEATIKAIMNTQVDPYLPYEYTCVGMLERINAYIQHQDFCGGPSPVPLGSNTAQSLFVLAPNATHLEWAQNISSVPGAWPPPHSLRAWLAAPGRACTDACLDHGLVCEPSFFPFLNSQDAFLRLQVPCDSTEWEMHHLYPAFAQPGQECYLQKEPLLFSCAGASTKYQRLCPCRDFRKGQVALCQGCL", "length": 792 }, "evidence": [ { "id": "45242047", "url": "http://www.informatics.jax.org/homology/45242047", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q765H6-1", "protein_name": "Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B", "gene_name": "Mgat5b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MITVNPDGKIMVRRCLVTLRPFRLFVLGIGFFTLCFLMTSLGGQFSARRLGDSPFTIRTEVPGSPESRGALRKMSDLLELMVKRMDMLARLENSSELHRTASVAHLAADRLTPGASLIERIQAIAQNVSDIAVKVDQILRHSLILHSKVSEGRRDQCEAPSDPKFPDCSGKVEWMRARWTSDPCYAFFGVDGTECSFLIYLSEVEWFCPPLPWRNQTAARTAPKSLPRVQAVFRSNLSHLLELMGSGKESLIFMKKRTRRFTAQWTKAAKYLAQKLGDIRRDQKQILVHIGFLTEESGDVFSPRVLKGGPLGEMVQWADILAALYVLGHSLRITVSLKELQSNLGVPPGRGNCPLTVPLPFDLIYTDYHGLQQMKQHMGLSFKKYRCRIRVIDTFGTEPAYNHEEYATLHGYRTNWGYWNLNPKQFMTMFPHTPDNSFMGFVSEELNETEKQLIKDGKASNMAVVYGKEASIWKLQGKEKFLAVLNKYMEIHGTVYYESQRPPEVPAFVKNHGLLPQPEFQQLLRKAKLFIGFGFPYEGPAPLEAIANGCIFLQSRFSPPHSSLNHEFFRGKPTSREVFSQHPYAENFIGKPHVWTVDYNNSDEFETAIKAIMNTQVDPYLPYEYTCAGMLERINAYIQHQDFCVGPSPLPPGASTAQSPFVLAPNATHLEWAQNISSVPGAWPPTHSLRAWLAAPGRACTDACLDHGLICEPSFFPFLNSQNSFLKLQVPCDSTEWEMHHLYPAFAQPGQECYLQKEPLLFSCAGASTKYQRLCPCRDFRKGQVALCQGCL", "length": 792 }, "evidence": [ { "id": "45242047", "url": "http://www.informatics.jax.org/homology/45242047", "database": "MGI" }, { "id": "Q3V5L5", "url": "https://omabrowser.org/oma/group/Q3V5L5/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "pmid": "" }, { "name": "alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity", "id": "GO:0030144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030144", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "pmid": "" }, { "name": "protein O-linked glycosylation via serine", "id": "GO:0018242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018242", "evidence": [ { "database": "UniProtKB", "id": "Q3V5L5", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 127, "end_pos": 129, "annotation": "n_glycosylation_sequon" }, { "start_pos": 215, "end_pos": 217, "annotation": "n_glycosylation_sequon" }, { "start_pos": 236, "end_pos": 238, "annotation": "n_glycosylation_sequon" }, { "start_pos": 447, "end_pos": 449, "annotation": "n_glycosylation_sequon" }, { "start_pos": 600, "end_pos": 602, "annotation": "n_glycosylation_sequon" }, { "start_pos": 666, "end_pos": 668, "annotation": "n_glycosylation_sequon" }, { "start_pos": 675, "end_pos": 677, "annotation": "n_glycosylation_sequon" }, { "start_pos": 93, "end_pos": 95, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "16921", "name": "", "equation": "N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q08834-1", "A0A8I6A8E1-1", "Q3V5L5-1", "Q09328-1", "Q8R4G6-1", "Q765H6-1" ], "evidence": [ { "id": "16921", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16921" } ] }, { "id": "56252", "name": "", "equation": "3-O-[N-acetyl-beta-D-glucosaminyl-(1->2)-alpha-D-mannosyl]-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + O(3)-{N-acetyl-beta-D-glucosaminyl-(1->2)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-alpha-D-mannosyl}-L-seryl-[protein] + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q3V5L5-1", "Q765H6-1" ], "evidence": [ { "id": "56252", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/56252" } ] }, { "id": "56256", "name": "", "equation": "3-O-[N-acetyl-beta-D-glucosaminyl-(1->2)-alpha-D-mannosyl]-L-threonyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + O(3)-{N-acetyl-beta-D-glucosaminyl-(1->2)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-alpha-D-mannosyl}-L-threonyl-[protein] + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q3V5L5-1", "Q765H6-1" ], "evidence": [ { "id": "56256", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/56256" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6A8E1", "gene_name": "Mgat5b", "activity": [ { "ec_number": "2.4.1.155", "activity": "N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP.", "evidence": [ { "id": "A0A8I6A8E1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6A8E1" } ] }, { "ec_number": "2.4.1.155", "activity": "", "evidence": [ { "id": "A0A8I6A8E1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6A8E1" } ] } ] }, { "uniprot_ac": "Q08834", "gene_name": "Mgat5", "activity": [ { "ec_number": "2.4.1.155", "activity": "N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP.", "evidence": [ { "id": "Q08834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08834" } ] }, { "ec_number": "2.4.1.155", "activity": "", "evidence": [ { "id": "Q08834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08834" } ] } ] }, { "uniprot_ac": "Q09328", "gene_name": "MGAT5", "activity": [ { "ec_number": "2.4.1.155", "activity": "N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP.", "evidence": [ { "id": "Q09328", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09328" } ] }, { "ec_number": "2.4.1.155", "activity": "", "evidence": [ { "id": "Q09328", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09328" } ] } ] }, { "uniprot_ac": "Q3V5L5", "gene_name": "MGAT5B", "activity": [ { "ec_number": "2.4.1.155", "activity": "N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP.", "evidence": [ { "id": "Q3V5L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ] }, { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q3V5L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ] }, { "ec_number": "2.4.1.155", "activity": "", "evidence": [ { "id": "Q3V5L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3V5L5" } ] } ] }, { "uniprot_ac": "Q765H6", "gene_name": "Mgat5b", "activity": [ { "ec_number": "2.4.1.155", "activity": "N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP.", "evidence": [ { "id": "Q765H6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q765H6" } ] }, { "ec_number": "2.4.1.155", "activity": "", "evidence": [ { "id": "Q765H6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q765H6" } ] }, { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q765H6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q765H6" } ] } ] }, { "uniprot_ac": "Q8R4G6", "gene_name": "Mgat5", "activity": [ { "ec_number": "2.4.1.155", "activity": "N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP.", "evidence": [ { "id": "Q8R4G6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R4G6" } ] }, { "ec_number": "2.4.1.155", "activity": "", "evidence": [ { "id": "Q8R4G6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R4G6" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [ { "glytoucan_ac": "G00155YT", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G00176HZ", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00201AB", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G00210ZX", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G00221CZ", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G00231WL", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00369RM", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00396IE", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G00451UT", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G00470UO", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00503EE", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00504PK", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G00514XC", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00536FZ", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00584LL", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G00606LX", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00646SN", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G00662UH", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G00691NS", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00805TZ", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00828CZ", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G00830CM", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G00909GK", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G00910WD", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00948WV", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G00951UF", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G01001RL", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G01092NQ", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G01218JA", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G01223AA", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G01265XZ", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G01295AX", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G01297CS", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G01304ZB", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G01308XT", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G01310VF", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G01385UC", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G01414CL", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G01424EN", "type": "N-linked", "subtype": "Other" }, { "glytoucan_ac": "G01454UB", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G01521YU", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G01578LK", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G01613KN", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G01789AQ", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G01803DO", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G01818TY", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G01837GZ", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G01851EU", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G01917CF", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G02025MF", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G02076VP", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G02122FK", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G02132BT", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G02174FQ", "type": "N-linked", 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"type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G98552UD", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G98559XP", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G98565KP", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G98572JS", "type": "N-linked", "subtype": "Triantennary" }, { "glytoucan_ac": "G98601DU", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G98732ZL", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G98763IT", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G98771GR", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G98809PE", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": "G98852TR", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G98862GW", "type": "N-linked", "subtype": "Complex" }, { "glytoucan_ac": "G98863OA", "type": "N-linked", "subtype": "Tetraantennary" }, { "glytoucan_ac": 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"sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 11 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }