{ "uniprot_canonical_ac": "O43529-1", "uniprot_ac": "O43529", "uniprot_id": "CHSTA_HUMAN", "mass": { "chemical_mass": 42207.0, "monoisotopic_mass": 42207.0 }, "refseq": { "ac": "NP_004845", "name": "carbohydrate sulfotransferase 10", "summary": "This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" }, "gene_names": [ { "name": "CHST10", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43529", "id": "O43529" }, { "name": "CHST10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845", "id": "NP_004845" }, { "name": "HNK-1ST; HNK1ST", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845", "id": "NP_004845" } ], "protein_names": [ { "name": "Carbohydrate sulfotransferase 10", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43529" }, { "name": "2.8.2.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43529" }, { "name": "HNK-1 sulfotransferase; huHNK-1ST", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845", "id": "NP_004845" }, { "name": "HNK-1 sulfotransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43529" }, { "name": "HNK-1ST", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43529" }, { "name": "HNK1ST", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43529" }, { "name": "HuHNK-1ST", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43529" }, { "name": "carbohydrate sulfotransferase 10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845", "id": "NP_004845" } ], "function": [ { "annotation": "Catalyzes the transfer of sulfate from 3'-phosphoadenylyl sulfate (PAPS) to position 3 of terminal glucuronic acid of both protein- and lipid-linked oligosaccharides. Participates in biosynthesis of HNK-1 carbohydrate structure 3-O-sulfo-beta-D-GlcA-(1->3)-beta-D-Gal-(1->4)-D-GlcNAc-R, a sulfated glucuronyl-lactosaminyl residue carried by many neural recognition molecules, which is involved in cell interactions during ontogenetic development and in synaptic plasticity in the adult. May be indirectly involved in synapse plasticity of the hippocampus, via its role in HNK-1 biosynthesis (PubMed:9478973). Sulfates terminal glucuronyl residue of the laminin globular (LG)-domain binding epitope on DAG1/alpha-dystroglycan and prevents further polymerization by LARGE1 glycosyltransferase. Likely defines the chain length of LG epitope, conferring binding specificity to extracellular matrix components (PubMed:32149355). Plays a role in down-regulating the steroid hormones. Sulfates glucuronidated estrogens and androgens with an impact in hormone cycle and fertility. Has a preference for glucuronyl moiety at the 3-hydroxyl group of a sterol ring rather than the 17-hydroxyl group, showing high catalytic efficiency for 17beta-estradiol 3-O-(beta-D-glucuronate) and dehydroepiandrosterone 3-O-(beta-D-glucuronate) hormones (PubMed:23269668).", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529#function" }, { "database": "PubMed", "id": "9478973", "url": "https://glygen.org/publication/PubMed/9478973" }, { "database": "PubMed", "id": "23269668", "url": "https://glygen.org/publication/PubMed/23269668" }, { "database": "PubMed", "id": "32149355", "url": "https://glygen.org/publication/PubMed/32149355" } ] }, { "annotation": "HNK-1ST may be responsible for regulating the sorting of alpha- and beta-TM.", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" }, { "database": "PubMed", "id": "21828042", "url": "https://glygen.org/publication/PubMed/21828042" } ] }, { "annotation": "Identification of a novel member of HNK-1 family of sulfotransferases", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" }, { "database": "PubMed", "id": "12080076", "url": "https://glygen.org/publication/PubMed/12080076" } ] }, { "annotation": "Novel role for HNK-1ST as a tumor suppressor controlling the functional glycans on alpha-DG and the importance of sulfate transfer in the glycosylation of alpha-DG.", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" }, { "database": "PubMed", "id": "22801424", "url": "https://glygen.org/publication/PubMed/22801424" } ] }, { "annotation": "Observational study and meta-analysis of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" }, { "database": "PubMed", "id": "20950796", "url": "https://glygen.org/publication/PubMed/20950796" } ] }, { "annotation": "These results suggest that HNK-1ST is involved in 3-O-sulfation of the terminal GlcA of the linkage tetrasaccharide which acts as an inhibitory signal for the initiation of chondroitin sulfate chain biosynthesis on thrombomodulin.", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" }, { "database": "PubMed", "id": "22020094", "url": "https://glygen.org/publication/PubMed/22020094" } ] }, { "annotation": "This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" } ] }, { "annotation": "We show that CHST10 is also regulated by RARgamma in a significant subset of human melanoma cells, and three-dimensional cell culture migration assays suggest that CHST10 functions as a suppressor of invasiveness, but not proliferation, in these cells", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" }, { "database": "PubMed", "id": "19470764", "url": "https://glygen.org/publication/PubMed/19470764" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43529", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43529" }, { "id": "rs1389279650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389279650" }, { "id": "rs1389279650", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389279650" }, { "id": "rs1389279650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389279650" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 101, "end_pos": 101, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLS->NLL).", "chr_id": "2", "chr_pos": "100398033", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S101", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs748002148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748002148" }, { "id": "rs748002148", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748002148" }, { "id": "rs748002148", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748002148" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 144, "end_pos": 144, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "2", "chr_pos": "100395612", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A144", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780726705", "database": "dbSNP", "url": 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"http://gnomad.broadinstitute.org/awesome?query=rs1217726797" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 228, "end_pos": 228, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->SRT).", "chr_id": "2", "chr_pos": "100393633", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N228", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1356817954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356817954" }, { "id": "rs1356817954", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356817954" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 230, "end_pos": 230, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRA).", "chr_id": "2", "chr_pos": "100393628", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T230", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43529", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43529" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 26, "end_pos": 26, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "100406599", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T26", "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": 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"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": 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}, { "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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43529" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43529" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43529" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43529" } ], "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 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"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": "O43529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43529" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43529" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43529" } ], "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": "O43529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43529" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43529" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O43529", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43529" } ], "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 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"sequence": "MHHQWLLLAACFWVIFMFMVASKFITLTFKDPDVYSAKQEFLFLTTMPEVRKLPEEKHIPEELKPTGKELPDSQLVQPLVYMERLELIRNVCRDDALKNLSHTPVSKFVLDRIFVCDKHKILFCQTPKVGNTQWKKVLIVLNGAFSSIEEIPENVVHDHEKNGLPRLSSFSDAEIQKRLKTYFKFFIVRDPFERLISAFKDKFVHNPRFEPWYRHEIAPGIIRKYRRNRTETRGIQFEDFVRYLGDPNHRWLDLQFGDHIIHWVTYVELCAPCEIMYSVIGHHETLEDDAPYILKEAGIDHLVSYPTIPPGITVYNRTKVEHYFLGISKRDIRRLYARFEGDFKLFGYQKPDFLLN", "length": 356, "header": "sp|O43529-1|CHSTA_HUMAN Isoform 1 of Carbohydrate sulfotransferase 10 OS=Homo sapiens OX=9606 GN=CHST10 PE=1 SV=1 CANONICAL=O43529-1" }, "isoforms": [ { "isoform_ac": "B8ZZ48-1", "url": "", "sequence": { "sequence": "MHHQWLLLAACFWVIFMFMVASKFITLTFKDPDVYSAKQEFLFLTTMPEVRKLPEEKHIPEELKPTGKELPDSQLVQPLVYMERLELIRNVCRDDALKNLSHTPVSKFVLDRIFVCDKHKILFCQTPKVGNTQWKKVLIVL", "length": 141, "header": "tr|B8ZZ48-1|CHSTA_HUMAN Computationally mapped isoform of Carbohydrate sulfotransferase 10 OS=Homo sapiens OX=9606 GN=CHST10 PE=1 SV=1 CANONICAL=O43529-1" }, "locus": { "chromosome": "2", "start_pos": 100406675, "end_pos": 100397912, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409046.5", "url": "https://www.ensembl.org/id/ENST00000409046.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387121.1", "url": "https://www.ensembl.org/id/ENSP00000387121.1" } ] } }, { "isoform_ac": "C9J5X0-1", "url": "", "sequence": { "sequence": "MHHQWLLLAACFWVIFMFMVASKFITLTFKDPDVYSAKQEFLFLTTMPEVRKLPEEKHIPEELKPTGKELPDSQLVQPLVYMERLELIRNVCRDDALKNLSHTPVSKFVLDRIFVCDKHKILFCQTPKVGNTQ", "length": 133, "header": "tr|C9J5X0-1|C9J5X0_HUMAN Computationally mapped isoform of Carbohydrate sulfotransferase OS=Homo sapiens OX=9606 GN=CHST10 PE=1 SV=1 CANONICAL=O43529-1" }, "locus": { "chromosome": "2", "start_pos": 100406675, "end_pos": 100397936, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000420858.5", "url": "https://www.ensembl.org/id/ENST00000420858.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000405922.1", "url": "https://www.ensembl.org/id/ENSP00000405922.1" } ] } }, { "isoform_ac": "C9JCK7-1", "url": "", "sequence": { "sequence": "MHHQWLLLAACFWVIFMFMVASKFITLTFKDPDVYSAKQEFLFLTTMPEVRKLPEEKHIPEELK", "length": 64, "header": "tr|C9JCK7-1|C9JCK7_HUMAN Computationally mapped isoform of Carbohydrate sulfotransferase 10 OS=Homo sapiens OX=9606 GN=CHST10 PE=1 SV=1 CANONICAL=O43529-1" }, "locus": { "chromosome": "2", "start_pos": 100406675, "end_pos": 100402564, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418201.5", "url": "https://www.ensembl.org/id/ENST00000418201.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000416831.1", "url": "https://www.ensembl.org/id/ENSP00000416831.1" } ] } }, { "isoform_ac": "C9JI33-1", "url": "", "sequence": { "sequence": "MHHQWLLLAACFWVIFMFMVASKFITLTFKDPD", "length": 33, "header": "tr|C9JI33-1|CHSTA_HUMAN Computationally mapped isoform of Carbohydrate sulfotransferase 10 OS=Homo sapiens OX=9606 GN=CHST10 PE=1 SV=1 CANONICAL=O43529-1" }, "locus": { "chromosome": "2", "start_pos": 100406675, "end_pos": 100406577, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435960.5", "url": "https://www.ensembl.org/id/ENST00000435960.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000395643.1", "url": "https://www.ensembl.org/id/ENSP00000395643.1" } ] } }, { "isoform_ac": "C9JUE4-1", "url": "", "sequence": { "sequence": "MHHQWLLLAACFWVIFMFMVASKFITLTFKDPDVYSAKQEFLFLTTMPEVRKLPEEKHIPEELKPTGKELPDSQLVQPLVYMERL", "length": 85, "header": "tr|C9JUE4-1|C9JUE4_HUMAN Computationally mapped isoform of Carbohydrate sulfotransferase 10 OS=Homo sapiens OX=9606 GN=CHST10 PE=1 SV=1 CANONICAL=O43529-1" }, "locus": { "chromosome": "2", "start_pos": 100406675, "end_pos": 100398080, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421474.5", "url": "https://www.ensembl.org/id/ENST00000421474.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000407525.1", "url": "https://www.ensembl.org/id/ENSP00000407525.1" } ] } }, { "isoform_ac": "C9JWY0-1", "url": "", "sequence": { "sequence": "MQRKAGKKEHVQLRDKRNQEPQFRGNTARKCEPQAAEGRVSEWLRCDNMHHQWLLLAACFWVIFMFMVASKFITLTFKDPDVYSAKQEFLFLTTMPEVRKLPEEKHIPEELKPTGKELPDSQLVQPLVYMERLELIRNVCRD", "length": 142, "header": "tr|C9JWY0-1|C9JWY0_HUMAN Computationally mapped isoform of Carbohydrate sulfotransferase 10 OS=Homo sapiens OX=9606 GN=CHST10 PE=1 SV=1 CANONICAL=O43529-1" }, "locus": { "chromosome": "2", "start_pos": 100417029, "end_pos": 100398053, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448989.5", "url": "https://www.ensembl.org/id/ENST00000448989.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387977.1", "url": "https://www.ensembl.org/id/ENSP00000387977.1" } ] } }, { "isoform_ac": "O43529-1", "url": "", "sequence": { "sequence": "MHHQWLLLAACFWVIFMFMVASKFITLTFKDPDVYSAKQEFLFLTTMPEVRKLPEEKHIPEELKPTGKELPDSQLVQPLVYMERLELIRNVCRDDALKNLSHTPVSKFVLDRIFVCDKHKILFCQTPKVGNTQWKKVLIVLNGAFSSIEEIPENVVHDHEKNGLPRLSSFSDAEIQKRLKTYFKFFIVRDPFERLISAFKDKFVHNPRFEPWYRHEIAPGIIRKYRRNRTETRGIQFEDFVRYLGDPNHRWLDLQFGDHIIHWVTYVELCAPCEIMYSVIGHHETLEDDAPYILKEAGIDHLVSYPTIPPGITVYNRTKVEHYFLGISKRDIRRLYARFEGDFKLFGYQKPDFLLN", "length": 356, "header": "sp|O43529-1|CHSTA_HUMAN Isoform 1 of Carbohydrate sulfotransferase 10 OS=Homo sapiens OX=9606 GN=CHST10 PE=1 SV=1 CANONICAL=O43529-1" }, "locus": { "chromosome": "2", "start_pos": 100406675, "end_pos": 100393248, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409701.5", "url": "https://www.ensembl.org/id/ENST00000409701.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387309.1", "url": "https://www.ensembl.org/id/ENSP00000387309.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 228, "start_aa": "Asn", "end_pos": 228, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn228", "evidence": [ { "id": "O43529", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43529#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 316, "start_aa": "Asn", "end_pos": 316, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn316", "evidence": [ { "id": "O43529", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43529#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "HIPEELKPTGK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 58, "start_aa": "His", "end_pos": 68, "end_aa": "Lys", "evidence": [ { "id": "O43529", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 66, "start_aa": "Thr", "end_pos": 66, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr66", "evidence": [ { "id": "O43529", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "O43529", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43529#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O43529", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Spectrum of mutations in fucosidosis.", "journal": "European journal of human genetics : EJHG", "date": "1999", "authors": "Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "10094192", "url": "https://glygen.org/publication/PubMed/10094192" } ] }, { "title": "Mapping of the alpha-1,6-fucosyltransferase gene, FUT8, to human chromosome 14q24.3.", "journal": "Cytogenetics and cell genetics", "date": "1999", "authors": "Yamaguchi Y, Fujii J, Inoue S, Uozumi N, Yanagidani S, Ikeda Y, Egashira M, Miyoshi O, Niikawa N, Taniguchi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "10343104", "url": "https://glygen.org/publication/PubMed/10343104" } ] }, { "title": "Structure and function of HNK-1 sulfotransferase. Identification of donor and acceptor binding sites by site-directed mutagenesis.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ong E, Yeh JC, Ding Y, Hindsgaul O, Pedersen LC, Negishi M, Fukuda M", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" }, { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "10464296", "url": "https://glygen.org/publication/PubMed/10464296" } ] }, { "title": "Genomic structure and promoter analysis of the human alpha1, 6-fucosyltransferase gene (FUT8).", "journal": "Glycobiology", "date": "2000", "authors": "Yamaguchi Y, Ikeda Y, Takahashi T, Ihara H, Tanaka T, Sasho C, Uozumi N, Yanagidani S, Inoue S, Fujii J, Taniguchi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "10814706", "url": "https://glygen.org/publication/PubMed/10814706" } ] }, { "title": "Molecular cloning and expression of the pituitary glycoprotein hormone N-acetylgalactosamine-4-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Xia G, Evers MR, Kang HG, Schachner M, Baenziger JU", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "10988300", "url": "https://glygen.org/publication/PubMed/10988300" } ] }, { "title": "Molecular cloning and expression of two distinct human N-acetylgalactosamine 4-O-sulfotransferases that transfer sulfate to GalNAc beta 1-->4GlcNAc beta 1-->R in both N- and O-glycans.", "journal": "Glycobiology", "date": "2001", "authors": "Hiraoka N, Misra A, Belot F, Hindsgaul O, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "11445554", "url": "https://glygen.org/publication/PubMed/11445554" } ] }, { "title": "Molecular cloning and characterization of chondroitin-4-O-sulfotransferase-3. A novel member of the HNK-1 family of sulfotransferases.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kang HG, Evers MR, Xia G, Baenziger JU, Schachner M", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" } ], "reference": [ { "type": "PubMed", "id": "12080076", "url": "https://glygen.org/publication/PubMed/12080076" } ] }, { "title": "Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Wang Y, Schachter H, Marth JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "12417412", "url": "https://glygen.org/publication/PubMed/12417412" } ] }, { "title": "Essential and mutually compensatory roles of {alpha}-mannosidase II and {alpha}-mannosidase IIx in N-glycan processing in vivo in mice.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Akama TO, Nakagawa H, Wong NK, Sutton-Smith M, Dell A, Morris HR, Nakayama J, Nishimura S, Pai A, Moremen KW, Marth JD, Fukuda MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "16754854", "url": "https://glygen.org/publication/PubMed/16754854" } ] }, { "title": "Comparative and phylogenetic analysis of alpha-L-fucosidase genes.", "journal": "Gene", "date": "2007", "authors": "Intra J, Perotti ME, Pavesi G, Horner D", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "17175120", "url": "https://glygen.org/publication/PubMed/17175120" } ] }, { "title": "Disruption of alpha-mannosidase processing induces non-canonical hybrid-type glycosylation.", "journal": "FEBS letters", "date": "2007", "authors": "Crispin M, Aricescu AR, Chang VT, Jones EY, Stuart DI, Dwek RA, Davis SJ, Harvey DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "17466984", "url": "https://glygen.org/publication/PubMed/17466984" } ] }, { "title": "Ablation of GalNAc-4-sulfotransferase-1 enhances reproduction by altering the carbohydrate structures of luteinizing hormone in mice.", "journal": "The Journal of clinical investigation", "date": "2008", "authors": "Mi Y, Fiete D, Baenziger JU", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "18431515", "url": "https://glygen.org/publication/PubMed/18431515" } ] }, { "title": "Mechanism of regulation and suppression of melanoma invasiveness by novel retinoic acid receptor-gamma target gene carbohydrate sulfotransferase 10.", "journal": "Cancer research", "date": "2009", "authors": "Zhao X, Graves C, Ames SJ, Fisher DE, Spanjaard RA", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" } ], "reference": [ { "type": "PubMed", "id": "19470764", "url": "https://glygen.org/publication/PubMed/19470764" } ] }, { "title": "Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.", "journal": "Biological psychiatry", "date": "2011", "authors": "Kahler AK, Djurovic S, Rimol LM, Brown AA, Athanasiu L, Jonsson EG, Hansen T, Gustafsson O, Hall H, Giegling I, Muglia P, Cichon S, Rietschel M, Pietilainen OP, Peltonen L, Bramon E, Collier D, St Clair D, Sigurdsson E, Petursson H, Rujescu D, Melle I, Werge T, Steen VM, Dale AM, Matthews RT, Agartz I, Andreassen OA", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" } ], "reference": [ { "type": "PubMed", "id": "20950796", "url": "https://glygen.org/publication/PubMed/20950796" } ] }, { "title": "Involvement of human natural killer-1 (HNK-1) sulfotransferase in the biosynthesis of the GlcUA(3-O-sulfate)-Gal-Gal-Xyl tetrasaccharide found in alpha-thrombomodulin from human urine.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Hashiguchi T, Mizumoto S, Nishimura Y, Tamura J, Yamada S, Sugahara K", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" } ], "reference": [ { "type": "PubMed", "id": "21828042", "url": "https://glygen.org/publication/PubMed/21828042" } ] }, { "title": "Sulfation of glucuronic acid in the linkage tetrasaccharide by HNK-1 sulfotransferase is an inhibitory signal for the expression of a chondroitin sulfate chain on thrombomodulin.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Nakagawa N, Izumikawa T, Kitagawa H, Oka S", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" } ], "reference": [ { "type": "PubMed", "id": "22020094", "url": "https://glygen.org/publication/PubMed/22020094" } ] }, { "title": "Human natural killer-1 sulfotransferase (HNK-1ST)-induced sulfate transfer regulates laminin-binding glycans on alpha-dystroglycan.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Nakagawa N, Manya H, Toda T, Endo T, Oka S", "evidence": [ { "database": "RefSeq", "id": "NP_004845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004845" } ], "reference": [ { "type": "PubMed", "id": "22801424", "url": "https://glygen.org/publication/PubMed/22801424" } ] }, { "title": "In vivo regulation of steroid hormones by the Chst10 sulfotransferase in mouse.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Suzuki-Anekoji M, Suzuki A, Wu SW, Angata K, Murai KK, Sugihara K, Akama TO, Khoo KH, Nakayama J, Fukuda MN, Fukuda M", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "reference": [ { "type": "PubMed", "id": "23269668", "url": "https://glygen.org/publication/PubMed/23269668" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O43529", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Uncovering global SUMOylation signaling networks in a site-specific manner.", "journal": "Nat. Struct. Mol. Biol.", "date": "2014", "authors": "Hendriks IA, D'Souza RC, Yang B, Verlaan-de Vries M, Mann M, Vertegaal AC", "evidence": [ { "database": "UniProtKB", "id": "C9JWY0", "url": "https://www.uniprot.org/uniprot/C9JWY0" } ], "reference": [ { "type": "PubMed", "id": "25218447", "url": "https://glygen.org/publication/PubMed/25218447" } ] }, { "title": "HNK-1 sulfotransferase modulates \u03b1-dystroglycan glycosylation by 3-O-sulfation of glucuronic acid on matriglycan.", "journal": "Glycobiology", "date": "2020-09-28", "authors": "Sheikh M Osman, Venzke David, Anderson Mary E, Yoshida-Moriguchi Takako, Glushka John N, Nairn Alison V, Galizzi Melina, Moremen Kelley W, Campbell Kevin P, Wells Lance", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "reference": [ { "type": "PubMed", "id": "32149355", "url": "https://glygen.org/publication/PubMed/32149355" } ] }, { "title": "The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein.", "journal": "European journal of biochemistry", "date": "1995", "authors": "Tan J, D'Agostaro AF, Bendiak B, Reck F, Sarkar M, Squire JA, Leong P, Schachter H", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "7635144", "url": "https://glygen.org/publication/PubMed/7635144" } ] }, { "title": "Expression of human chromosome 19p alpha(1,3)-fucosyltransferase genes in normal tissues. Alternative splicing, polyadenylation, and isoforms.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Cameron HS, Szczepaniak D, Weston BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "7650030", "url": "https://glygen.org/publication/PubMed/7650030" } ] }, { "title": "Molecular cloning and expression of cDNAs encoding human alpha-mannosidase II and a previously unrecognized alpha-mannosidase IIx isozyme.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Misago M, Liao YF, Kudo S, Eto S, Mattei MG, Moremen KW, Fukuda MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "8524845", "url": "https://glygen.org/publication/PubMed/8524845" } ] }, { "title": "Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.", "journal": "American journal of human genetics", "date": "1996", "authors": "Tan J, Dunn J, Jaeken J, Schachter H", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "8808595", "url": "https://glygen.org/publication/PubMed/8808595" } ] }, { "title": "Expression cloning of a human sulfotransferase that directs the synthesis of the HNK-1 glycan on the neural cell adhesion molecule and glycolipids.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ong E, Yeh JC, Ding Y, Hindsgaul O, Fukuda M", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" }, { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "9478973", "url": "https://glygen.org/publication/PubMed/9478973" } ] }, { "title": "Expression of human alpha-l-fucosyltransferase gene homologs in monkey kidney COS cells and modification of potential fucosyltransferase acceptor substrates by an endogenous glycosidase.", "journal": "Glycobiology", "date": "1999", "authors": "Clarke JL, Watkins WM", "evidence": [ { "database": "Reactome", "id": "R-HSA-975578", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578" } ], "reference": [ { "type": "PubMed", "id": "9949196", "url": "https://glygen.org/publication/PubMed/9949196" } ] } ], "pathway": [ { "id": "hsa:9486", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9486", "resource": "KEGG Pathway" }, { "id": "R-HSA-975578", "name": "Reactions specific to the complex N-glycan synthesis pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975578", "resource": "Reactome", "description": "Reactions specific to the complex N-glycan synthesis pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O54702-1", "protein_name": "Carbohydrate sulfotransferase 10", "gene_name": "Chst10", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MHHQWLLLAACFWVIFMFMVASKFITLTFKDPDGYSAKQEFVFLTAMPEAEKLRGEKHFSEVMKPTGKMLSESHPDQPPVYLERLELIRNACKEEALRNLSHTEVSKFVLDRIFVCDKHKILFCQTPKVGNTQWKKVLIVLNGAFSSIEEIPENVVHDHEKNGLPRLSSFSKIGIQKRLKTYFKFFIVRDPFERLISAFKDKFVHNPRFEPWYRHEIAPGIIRKYRKNRTETRGIQFEDFVRYLGDPNRRWLDLQFGDHIIHWVTYVKLCAPCEIKYSVIGHHETLEADAPYILKEAGIDHLVSYPTIPPGITMYNRTKVEQYFLGISKRDIRRLYARFEGDFKLFGYQKPDFLLN", "length": 356 }, "evidence": [ { "id": "45925597", "url": "http://www.informatics.jax.org/homology/45925597", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6PGK7-1", "protein_name": "Carbohydrate sulfotransferase 10", "gene_name": "Chst10", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MHHQWLLLAACFWVIFMFMVASKFITLTFKDPDGYSAKQEFVFLTTMPEAEKLRGEKHFPEVPKPTGKMLSDSRPDQPPVYLERLELIRNTCKEEALRNLSHTEVSKFVLDRIFVCDKHKILFCQTPKVGNTQWKKVLIVLNGAFSSIEEIPENVVHDHEKNGLPRLSSFSKIGIQKRLKTYFKFFIVRDPFERLISAFKDKFVHNPRFEPWYRHEIAPGIIRKYRKNRTETRGIQFEDFVRYLGDPNRRWLDLQFGDHIIHWVTYVELCAPCEIKYSVVGHHETLEADAPYILKEAGIDHLVSYPTIPPGITMYNRTKVEQYFLGISKRDIRRLYARFEGDFKLFGYQKPDFLLN", "length": 356 }, "evidence": [ { "id": "45925597", "url": "http://www.informatics.jax.org/homology/45925597", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "sulfotransferase activity", "id": "GO:0008146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008146", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" }, { "name": "HNK-1 sulfotransferase activity", "id": "GO:0016232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016232", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "carbohydrate biosynthetic process", "id": "GO:0016051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016051", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" }, { "name": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" }, { "name": "androgen metabolic process", "id": "GO:0008209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008209", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" }, { "name": "proteoglycan biosynthetic process", "id": "GO:0030166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030166", "evidence": [ { "database": "UniProtKB", "id": "O43529", "url": "https://www.uniprot.org/uniprot/O43529" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 228, "end_pos": 230, "annotation": "n_glycosylation_sequon" }, { "start_pos": 316, "end_pos": 318, "annotation": "n_glycosylation_sequon" }, { "start_pos": 99, "end_pos": 101, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "68304", "name": "", "equation": "3'-phosphoadenylyl sulfate + 3-O-{beta-D-GlcA-(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n)-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein] = 3-O-{O-3-S-beta-D-GlcA-(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n)-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein] + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68304", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68304" } ] }, { "id": "68660", "name": "", "equation": "17beta-estradiol 3-O-(beta-D-glucuronate) 17-sulfate + 3'-phosphoadenylyl sulfate = 17beta-estradiol 3-O-(3-sulfo-beta-D-glucuronate) 17-sulfate + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68660", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68660" } ] }, { "id": "68664", "name": "", "equation": "17beta-estradiol 17-O-(beta-D-glucuronate) + 3'-phosphoadenylyl sulfate = 17beta-estradiol 17-O-(3-sulfo-beta-D-glucuronate) + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68664", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68664" } ] }, { "id": "68668", "name": "", "equation": "16alpha,17beta-estriol 3-O-(beta-D-glucuronate) + 3'-phosphoadenylyl sulfate = 16alpha,17beta-estriol 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68668", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68668" } ] }, { "id": "68672", "name": "", "equation": "16alpha,17beta-estriol 16-O-(beta-D-glucuronate) + 3'-phosphoadenylyl sulfate = 16alpha,17beta-estriol 16-O-(3-sulfo-beta-D-glucuronate) + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68672", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68672" } ] }, { "id": "68676", "name": "", "equation": "3'-phosphoadenylyl sulfate + estrone 3-O-(beta-D-glucuronate) = adenosine 3',5'-bisphosphate + estrone 3-O-(3-sulfo-beta-D-glucuronate) + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68676", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68676" } ] }, { "id": "68680", "name": "", "equation": "3'-phosphoadenylyl sulfate + 3alpha,20alpha-dihydroxy-5beta-pregnane 3-O-(beta-D-glucuronate) = 3alpha,20alpha-dihydroxy-5beta-pregnane 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68680", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68680" } ] }, { "id": "68684", "name": "", "equation": "3'-phosphoadenylyl sulfate + testosterone 17-O-(beta-D-glucuronate) = adenosine 3',5'-bisphosphate + H(+) + testosterone 17-O-(3-sulfo-beta-D-glucuronate)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68684", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68684" } ] }, { "id": "68688", "name": "", "equation": "3'-phosphoadenylyl sulfate + 3beta-androst-5-en-17-one 3-O-(beta-D-glucuronate) = 3beta-androst-5-en-17-one 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68688", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68688" } ] }, { "id": "68692", "name": "", "equation": "3'-phosphoadenylyl sulfate + 3alpha,17alpha-dihydroxy-5beta-androstane-11-one-17beta-carboxylate 3-O-(beta-D-glucuronate) = 3alpha,17alpha-dihydroxy-5beta-androstane-11-one-17beta-carboxylate 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68692", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68692" } ] }, { "id": "68696", "name": "", "equation": "17beta-estradiol 3-O-(beta-D-glucuronate) + 3'-phosphoadenylyl sulfate = 17beta-estradiol 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68696", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68696" } ] }, { "id": "68700", "name": "", "equation": "16alpha,17beta-estriol 17-O-(beta-D-glucuronate) + 3'-phosphoadenylyl sulfate = 16alpha,17beta-estriol 17-O-(3-sulfo-beta-D-glucuronate) + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68700", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68700" } ] }, { "id": "68704", "name": "", "equation": "3'-phosphoadenylyl sulfate + 3alpha-hydroxyetiocholan-17-one 3-O-(beta-D-glucuronate) = 3alpha-hydroxyetiocholan-17-one 3-O-(3-sulfo-beta-D-glucuronate) + adenosine 3',5'-bisphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54702-1", "O43529-1", "Q6PGK7-1" ], "evidence": [ { "id": "68704", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/68704" } ] }, { "id": "R-HSA-6786048", "name": "CHST10 transfers SO4(2-) from PAPS to GlcA-LacN on NCAM1", "equation": "", "summary": "Carbohydrate sulfotransferase 10 (CHST10) transfers sulfate (SO4(2-)) from the high energy donor 3'-phospho-5'-adenylyl sulfate (PAPS) to position 3 of non-reducing glucuronyl (GlcA) residues of N-glycosylated proteins terminating with the saccharide sequence glucuronyl-lactosaminyl (GlcA-LacN), forming the HNK1 carbohydrate (sulfo-3GlcA-beta1,3Gal-beta1,4-GlcNAc-R). The HNK1 carbohydrate is expressed on various adhesion molecules (neural cells, natural killer cells) in the nervous system and may play a role in cell-cell and cell-substratum interactions (Ong et al. 1998, 1999).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [ "R-ALL-6786371" ], "output_participant_list": [ "R-ALL-6786380" ], "enzyme_list": [ "O43529-1" ], "evidence": [ { "id": "R-HSA-6786048", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6786048" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-6786371", "participant_name": "HNK1 carbohydrate [Golgi lumen]", "crossref": [ { "id": "86336", "database": "ChEBI", "url": "" }, { "id": "86336", "database": "ChEBI", "url": "" }, { "id": "86336", "database": "ChEBI", "url": "" }, { "id": "86336", "database": "ChEBI", "url": "" }, { "id": "86336", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-6786380", "participant_name": "S-HNK1 carbohydrate [Golgi lumen]", "crossref": [ { "id": "86335", "database": "ChEBI", "url": "" }, { "id": "86335", "database": "ChEBI", "url": "" }, { "id": "86335", "database": "ChEBI", "url": "" }, { "id": "86335", "database": "ChEBI", "url": "" }, { "id": "86335", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O43529", "gene_name": "CHST10", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "O43529", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43529" } ] } ] }, { "uniprot_ac": "O54702", "gene_name": "Chst10", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "O54702", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54702" } ] } ] }, { "uniprot_ac": "Q6PGK7", "gene_name": "Chst10", "activity": [ { "ec_number": "2.8.2.-", "activity": "", "evidence": [ { "id": "Q6PGK7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6PGK7" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 99, 228, 316 ], "o_linked_sites": [ 58, 66 ], "snv_sites": [ 26, 101, 144, 228, 230, 310, 318 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 228, "end_pos": 230 }, { "start_pos": 316, "end_pos": 318 }, { "start_pos": 99, "end_pos": 101 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "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": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "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": 29 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }