{ "uniprot_canonical_ac": "O43916-1", "uniprot_ac": "O43916", "uniprot_id": "CHST1_HUMAN", "mass": { "chemical_mass": 46715.0, "monoisotopic_mass": 46715.0 }, "refseq": { "ac": "NP_003645", "name": "carbohydrate sulfotransferase 1", "summary": "This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645" }, "gene_names": [ { "name": "CHST1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43916", "id": "O43916" }, { "name": "C6ST; GST-1; KS6ST; KSGal6ST; KSST", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645", "id": "NP_003645" }, { "name": "CHST1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645", "id": "NP_003645" } ], "protein_names": [ { "name": "Carbohydrate sulfotransferase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43916" }, { "name": "2.8.2.21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43916" }, { "name": "GST-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43916" }, { "name": "Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43916" }, { "name": "KS6ST", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43916" }, { "name": "KSGal6ST", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43916" }, { "name": "KSST", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43916" }, { "name": "Keratan sulfate Gal-6 sulfotransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43916" }, { "name": "carbohydrate (chondroitin 6/keratan) sulfotransferase 1; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 1; carbohydrate (keratan sulfate Gal-6) sulfotransferase 1; Keratan sulfotransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645", "id": "NP_003645" }, { "name": "carbohydrate sulfotransferase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645", "id": "NP_003645" } ], "function": [ { "annotation": "A new point mutation in C6ST-1 is associated with spondyloepiphyseal dysplasia, Omani type.", "evidence": [ { "database": "RefSeq", "id": "NP_003645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645" }, { "database": "PubMed", "id": "18698629", "url": "https://glygen.org/publication/PubMed/18698629" } ] }, { "annotation": "Epitope expressing changes with suppression or over-expression of the Gal6ST (Gal 6-O-sulfotransferase) gene, suggesting that Gal6ST is involved in the biosynthesis of the unique epitopes of KL-6/mAb.", "evidence": [ { "database": "RefSeq", "id": "NP_003645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645" }, { "database": "PubMed", "id": "21880669", "url": "https://glygen.org/publication/PubMed/21880669" } ] }, { "annotation": "Found endogenous expression of the long form of the enzyme in human tissue, predominantly in the trans-Golgi network of endothelial cells that form human high endothelial venules.", "evidence": [ { "database": "RefSeq", "id": "NP_003645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645" }, { "database": "PubMed", "id": "22260995", "url": "https://glygen.org/publication/PubMed/22260995" } ] }, { "annotation": "Sulfated keratan sulfate is produced by beta3GNT7, beta4GalT4, CGn6ST, and KSG6ST", "evidence": [ { "database": "RefSeq", "id": "NP_003645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645" }, { "database": "PubMed", "id": "17690104", "url": "https://glygen.org/publication/PubMed/17690104" } ] }, { "annotation": "Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of internal galactose (Gal) residues of keratan. Cooperates with B4GALT4 and B3GNT7 glycosyltransferases and CHST6 sulfotransferase to construct and elongate disulfated disaccharide unit [->3(6-sulfoGalbeta)1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer (PubMed:17690104, PubMed:9405439, PubMed:10642612). Has a preference for sulfating keratan sulfate, but it also transfers sulfate to the unsulfated polymer (PubMed:9405439). Involved in biosynthesis of phosphacan, a major keratan sulfate proteoglycan in the developing brain (By similarity). Involved in biosynthesis of 6-sulfoGalbeta-containing O-linked glycans in high endothelial venules of lymph nodes. May act in a synergistic manner with CHST4 to generate sialyl 6',6-disulfo Lewis X motif, a recognition determinant for immune cell receptors implicated in leukocyte trafficking (PubMed:10330415). Catalyzes sulfation of N-acetyllactosamine (LacNAc) oligosaccharides with highest efficiency for sialylated LacNAc structures (PubMed:10642612).", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916#function" }, { "database": "PubMed", "id": "10330415", "url": "https://glygen.org/publication/PubMed/10330415" }, { "database": "PubMed", "id": "9405439", "url": "https://glygen.org/publication/PubMed/9405439" }, { "database": "PubMed", "id": "10642612", "url": "https://glygen.org/publication/PubMed/10642612" }, { "database": "PubMed", "id": "17690104", "url": "https://glygen.org/publication/PubMed/17690104" }, { "database": "UniProtKB", "id": "Q9EQC0", "url": "https://www.uniprot.org/uniprot/Q9EQC0#function" } ] }, { "annotation": "This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_003645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43916", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43916" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 189, "end_pos": 189, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "11", "chr_pos": "45650357", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N189", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs765383165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765383165" }, { "id": "rs765383165", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765383165" }, { "id": "rs765383165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765383165" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 189, "end_pos": 189, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "11", "chr_pos": "45650358", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N189", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43916", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43916" } ], "glycoeffect": [], "start_pos": 209, "end_pos": 209, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "45650298", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R209", "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": "" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant 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{ "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "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": 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"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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769686602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769686602" }, { "id": "rs769686602", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769686602" }, { "id": "rs769686602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769686602" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 244, "end_pos": 244, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SET->NET).", "chr_id": "11", "chr_pos": "45650193", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S244", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43916", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43916" } ], "glycoeffect": [], "start_pos": 28, "end_pos": 28, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "45650842", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A28", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43916" } ], "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": "O43916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43916" } ], "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": "O43916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43916" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43916" } ], "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": 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"start_pos": 398, "end_pos": 398, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43916" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser398" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "CHST1 and CHST2 sulfotransferases expressed by human vascular endothelial cells: cDNA cloning, expression, and chromosomal localization.", "journal": "Genomics", "date": "1999", "authors": "Li X, Tedder TF", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "reference": [ { "type": "PubMed", "id": "10049591", "url": "https://glygen.org/publication/PubMed/10049591" } ] }, { "title": "Molecular cloning of a novel alpha2,3-sialyltransferase (ST3Gal VI) that sialylates type II lactosamine structures on glycoproteins and glycolipids.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Okajima T, Fukumoto S, Miyazaki H, Ishida H, Kiso M, Furukawa K, Urano T, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "10206952", "url": "https://glygen.org/publication/PubMed/10206952" } ] }, { "title": "Sulfotransferases of two specificities function in the reconstitution of high endothelial cell ligands for L-selectin.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Bistrup A, Bhakta S, Lee JK, Belov YY, Gunn MD, Zuo FR, Huang CC, Kannagi R, Rosen SD, Hemmerich S", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "reference": [ { "type": "PubMed", "id": "10330415", "url": "https://glygen.org/publication/PubMed/10330415" } ] }, { "title": "Cloning and characterization of a mammalian N-acetylglucosamine-6-sulfotransferase that is highly restricted to intestinal tissue.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Lee JK, Bhakta S, Rosen SD, Hemmerich S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "10491328", "url": "https://glygen.org/publication/PubMed/10491328" } ] }, { "title": "Molecular cloning and expression of Galbeta1,3GalNAc alpha2, 3-sialyltransferase from human fetal liver.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Shang J, Qiu R, Wang J, Liu J, Zhou R, Ding H, Yang S, Zhang S, Jin C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "10504389", "url": "https://glygen.org/publication/PubMed/10504389" } ] }, { "title": "Sulfation of sialyl N-acetyllactosamine oligosaccharides and fetuin oligosaccharides by keratan sulfate Gal-6-sulfotransferase.", "journal": "Glycobiology", "date": "2000-02", "authors": "Torii T, Fukuta M, Habuchi O", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "reference": [ { "type": "PubMed", "id": "10642612", "url": "https://glygen.org/publication/PubMed/10642612" } ] }, { "title": "Keratan sulfate: structure, biosynthesis, and function.", "journal": "Glycobiology", "date": "2000", "authors": "Funderburgh JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11030741", "url": "https://glygen.org/publication/PubMed/11030741" } ] }, { "title": "Identification and characterization of three novel beta 1,3-N-acetylglucosaminyltransferases structurally related to the beta 1,3-galactosyltransferase family.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Shiraishi N, Natsume A, Togayachi A, Endo T, Akashima T, Yamada Y, Imai N, Nakagawa S, Koizumi S, Sekine S, Narimatsu H, Sasaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11042166", "url": "https://glygen.org/publication/PubMed/11042166" } ] }, { "title": "Functional expression and genomic structure of human N-acetylglucosamine-6-O-sulfotransferase that transfers sulfate to beta-N-acetylglucosamine at the nonreducing end of an N-acetyllactosamine sequence.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Sakaguchi H, Kitagawa H, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11042394", "url": "https://glygen.org/publication/PubMed/11042394" } ] }, { "title": "Molecular cloning and characterization of UDP-GlcNAc:lactosylceramide beta 1,3-N-acetylglucosaminyltransferase (beta 3Gn-T5), an essential enzyme for the expression of HNK-1 and Lewis X epitopes on glycolipids.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Togayachi A, Akashima T, Ookubo R, Kudo T, Nishihara S, Iwasaki H, Natsume A, Mio H, Inokuchi J, Irimura T, Sasaki K, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11283017", "url": "https://glygen.org/publication/PubMed/11283017" } ] }, { "title": "CHST1 and CHST2 sulfotransferase expression by vascular endothelial cells regulates shear-resistant leukocyte rolling via L-selectin.", "journal": "J. Leukoc. Biol.", "date": "2001", "authors": "Li X, Tu L, Murphy PG, Kadono T, Steeber DA, Tedder TF", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "reference": [ { "type": "PubMed", "id": "11310842", "url": "https://glygen.org/publication/PubMed/11310842" } ] }, { "title": "Galactosylation of N-linked oligosaccharides by human beta-1,4-galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells.", "journal": "Glycobiology", "date": "2001", "authors": "Guo S, Sato T, Shirane K, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11588157", "url": "https://glygen.org/publication/PubMed/11588157" } ] }, { "title": "Molecular cloning and characterization of a novel UDP-GlcNAc:GalNAc-peptide beta1,3-N-acetylglucosaminyltransferase (beta 3Gn-T6), an enzyme synthesizing the core 3 structure of O-glycans.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Iwai T, Inaba N, Naundorf A, Zhang Y, Gotoh M, Iwasaki H, Kudo T, Togayachi A, Ishizuka Y, Nakanishi H, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11821425", "url": "https://glygen.org/publication/PubMed/11821425" } ] }, { "title": "Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.", "journal": "The Journal of clinical investigation", "date": "2002", "authors": "Hansske B, Thiel C, Lubke T, Hasilik M, Honing S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Korner C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11901181", "url": "https://glygen.org/publication/PubMed/11901181" } ] }, { "title": "Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Akama TO, Misra AK, Hindsgaul O, Fukuda MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "12218059", "url": "https://glygen.org/publication/PubMed/12218059" } ] }, { "title": "Cloning and tissue distribution of the human B3GALT7 gene, a member of the beta1,3-Glycosyltransferase family.", "journal": "Glycoconjugate journal", "date": "2004", "authors": "Huang C, Zhou J, Wu S, Shan Y, Teng S, Yu L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "15486459", "url": "https://glygen.org/publication/PubMed/15486459" } ] }, { "title": "Characterization of a cDNA encoding a protein with limited similarity to beta1, 3-N-acetylglucosaminyltransferase.", "journal": "Molecular biology reports", "date": "2004", "authors": "Zheng H, Li Y, Ji C, Li J, Zhang J, Yin G, Xu J, Ye X, Wu M, Zou X, Gu S, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "15560372", "url": "https://glygen.org/publication/PubMed/15560372" } ] }, { "title": "A novel beta1,3-N-acetylglucosaminyltransferase (beta3Gn-T8), which synthesizes poly-N-acetyllactosamine, is dramatically upregulated in colon cancer.", "journal": "FEBS letters", "date": "2005", "authors": "Ishida H, Togayachi A, Sakai T, Iwai T, Hiruma T, Sato T, Okubo R, Inaba N, Kudo T, Gotoh M, Shoda J, Tanaka N, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "15620693", "url": "https://glygen.org/publication/PubMed/15620693" } ] }, { "title": "Transition of galactosyltransferase 1 from trans-Golgi cisterna to the trans-Golgi network is signal mediated.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Schaub BE, Berger B, Berger EG, Rohrer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "17021253", "url": "https://glygen.org/publication/PubMed/17021253" } ] }, { "title": "Evidence for a molecular distinction between Golgi and cell surface forms of beta 1,4-galactosyltransferase.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Lopez LC, Youakim A, Evans SC, Shur BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "1714903", "url": "https://glygen.org/publication/PubMed/1714903" } ] }, { "title": "Enzymes responsible for synthesis of corneal keratan sulfate glycosaminoglycans.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Kitayama K, Hayashida Y, Nishida K, Akama TO", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" }, { "database": "RefSeq", "id": "NP_003645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645" } ], "reference": [ { "type": "PubMed", "id": "17690104", "url": "https://glygen.org/publication/PubMed/17690104" } ] }, { "title": "Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.", "journal": "American journal of medical genetics. Part A", "date": "2008", "authors": "van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP", "evidence": [ { "database": "RefSeq", "id": "NP_003645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645" } ], "reference": [ { "type": "PubMed", "id": "18698629", "url": "https://glygen.org/publication/PubMed/18698629" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O43916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43916" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Phosphoproteomic analysis of primary human multiple myeloma cells.", "journal": "Journal of proteomics", "date": "2010", "authors": "Ge F, Xiao CL, Yin XF, Lu CH, Zeng HL, He QY", "evidence": [ { "database": "iPTMnet", "id": "O43916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43916" } ], "reference": [ { "type": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" } ] }, { "title": "Novel O-linked glycans containing 6'-sulfo-Gal/GalNAc of MUC1 secreted from human breast cancer YMB-S cells: possible carbohydrate epitopes of KL-6(MUC1) monoclonal antibody.", "journal": "Glycobiology", "date": "2012", "authors": "Seko A, Ohkura T, Ideo H, Yamashita K", "evidence": [ { "database": "RefSeq", "id": "NP_003645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645" } ], "reference": [ { "type": "PubMed", "id": "21880669", "url": "https://glygen.org/publication/PubMed/21880669" } ] }, { "title": "Expression of long-form N-acetylglucosamine-6-O-sulfotransferase 1 in human high endothelial venules.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "2012", "authors": "Fujiwara M, Kobayashi M, Hoshino H, Uchimura K, Nakada T, Masumoto J, Sakai Y, Fukuda M, Nakayama J", "evidence": [ { "database": "RefSeq", "id": "NP_003645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003645" } ], "reference": [ { "type": "PubMed", "id": "22260995", "url": "https://glygen.org/publication/PubMed/22260995" } ] }, { "title": "Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3-sialyltransferase.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Kitagawa H, Paulson JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "8333853", "url": "https://glygen.org/publication/PubMed/8333853" } ] }, { "title": "Characterization of two glycolipid: alpha 2-3sialyltransferases, SAT-3 (CMP-NeuAc:nLcOse4Cer alpha 2-3sialyltransferase) and SAT-4 (CMP-NeuAc:GgOse4Cer alpha 2-3sialyltransferase), from human colon carcinoma (Colo 205) cell line.", "journal": "Biochemistry", "date": "1996", "authors": "Basu SS, Basu M, Li Z, Basu S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "8611500", "url": "https://glygen.org/publication/PubMed/8611500" } ] }, { "title": "Molecular cloning and expression of human Gal beta 1,3GalNAc alpha 2,3-sialytransferase (hST3Gal II).", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Kim YJ, Kim KS, Kim SH, Kim CH, Ko JH, Choe IS, Tsuji S, Lee YC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "8920913", "url": "https://glygen.org/publication/PubMed/8920913" } ] }, { "title": "Molecular cloning and characterization of human keratan sulfate Gal-6-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Fukuta M, Inazawa J, Torii T, Tsuzuki K, Shimada E, Habuchi O", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" }, { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "9405439", "url": "https://glygen.org/publication/PubMed/9405439" } ] }, { "title": "Cloning of a human UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase catalyzing the formation of type 1 chains.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Kolbinger F, Streiff MB, Katopodis AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": 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Biophys. Acta", "date": "1998", "authors": "Mazany KD, Peng T, Watson CE, Tabas I, Williams KJ", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "reference": [ { "type": "PubMed", "id": "9639683", "url": "https://glygen.org/publication/PubMed/9639683" } ] } ], "pathway": [ { "id": "hsa:8534", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8534", "resource": "KEGG Pathway" }, { "id": "R-HSA-2022854", "name": "Keratan sulfate biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854", "resource": "Reactome", "description": "Keratan sulfate biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5RJQ0-1", "protein_name": "Carbohydrate sulfotransferase 1", "gene_name": "Chst1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"MQCSWKAVLLLALASIAIQYTAIRTFTAKSFHTCPGLTDTGLAERLCEEGPTFSYNLSRKTHVLILATTRSGSSFVGQLFNQHMDVFYLFEPLYHVQNTLIPRFTQGKSPADRRVMLGASRDLLRSLYDCDLYFLENYIKPPPVNHTTNRVFRRGASRVLCSRPVCDPPGSSDLILEEGDCVRMCGLLNLTLAAEACRERSHVAIKTVRVPEVNDLRALVEDPRLNLKVIQLVRDPRGILASRSETFRDTYRLWRLWYGTGRKPYNLDVTQLTTVCEDFSSSVSTGLMRPSWLKGKYMLVRYEDLARNPMKKTEEIYEFLGIPLDSHVAHWIQNNTRGDPTLGKHKYSTVRNSAATAEKWRFRLSYDIVAFAQNACQQVLAQLGYKMANSEEELKNPAISLVEERDFRPFL", "length": 411 }, "evidence": [ { "id": "45929121", "url": "http://www.informatics.jax.org/homology/45929121", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "N-acetylglucosamine 6-O-sulfotransferase activity", "id": "GO:0001517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001517", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "pmid": "" }, { "name": "sulfotransferase activity", "id": "GO:0008146", "url": 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metabolic process", "id": "GO:0006790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006790", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "pmid": "" }, { "name": "keratan sulfate biosynthetic process", "id": "GO:0018146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018146", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "pmid": "" }, { "name": "polysaccharide metabolic process", "id": "GO:0005976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005976", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "pmid": "" }, { "name": "galactose metabolic process", "id": "GO:0006012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006012", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "pmid": "" }, { "name": "keratan sulfate metabolic process", "id": "GO:0042339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042339", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "pmid": "" } ] }, { "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": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "O43916", "url": "https://www.uniprot.org/uniprot/O43916" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 145, "end_pos": 147, "annotation": "n_glycosylation_sequon" }, { "start_pos": 189, "end_pos": 191, "annotation": "n_glycosylation_sequon" }, { "start_pos": 334, "end_pos": 336, "annotation": "n_glycosylation_sequon" }, { "start_pos": 56, "end_pos": 58, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-2046175", "name": "Further sulfation on galactose residues produces KSPG", "equation": "", "summary": "Carbohydrate sulfotransferase 1 (CHST1, keratan sulfate Gal-6 sulfotransferase) mediates the sulfation of galactose (Gal) on position 6 in keratan sulfate proteoglycans (KSPGs) (Fukuta et al. 1997).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43916-1" ], "evidence": [ { "id": "R-HSA-2046175", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046175" } ] } ], 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