[ { "title": "Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.", "journal": "Human mutation", "date": "2002", "authors": "Yamaguchi N, Kobayashi K, Yasuda T, Nishi I, Iijima M, Nakagawa M, Osame M, Kondo I, Saheki T", "reference": { "type": "PubMed", "id": "11793471", "url": "https://pubmed.ncbi.nlm.nih.gov/11793471" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UJS0-1", "protein_name": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial", "gene_name": "SLC25A13", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11793471", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "2024-01-01", "authors": "Lin Jiansheng, Lin Weihua, Lin Yiming, Peng Weilin, Zheng Zhenzhu", "reference": { "type": "PubMed", "id": "37890575", "url": "https://pubmed.ncbi.nlm.nih.gov/37890575" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UJS0-1", "protein_name": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial", "gene_name": "SLC25A13", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37890575", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Features of liver injury in 138 Chinese patients with NICCD.", "journal": "Journal of pediatric endocrinology & metabolism : JPEM", "date": "2023-12-15", "authors": "Jiang MinYan, Peng MinZhi, Lu ZhiKun, Shao YongXian, Liu ZongCai, Li XiuZhen, Lin YunTing, Liu Li, Zhang Wen, Cai YanNa", "reference": { "type": "PubMed", "id": "37939726", "url": "https://pubmed.ncbi.nlm.nih.gov/37939726" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UJS0-1", "protein_name": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial", "gene_name": "SLC25A13", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37939726", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Human mitochondrial carriers of the SLC25 family function as monomers exchanging substrates with a ping-pong kinetic mechanism.", "journal": "The EMBO journal", "date": "2024-08", "authors": "Cimadamore-Werthein Camila, King Martin S, Lacabanne Denis, Pyrihov\u00e1 Eva, Jaiquel Baron Stephany, Kunji Edmund Rs", "reference": { "type": "PubMed", "id": "38937634", "url": "https://pubmed.ncbi.nlm.nih.gov/38937634" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UJS0-1", "protein_name": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial", "gene_name": "SLC25A13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02978-1", "protein_name": "Mitochondrial 2-oxoglutarate/malate carrier protein", "gene_name": "SLC25A11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P53007-1", "protein_name": "Tricarboxylate transport protein, mitochondrial", "gene_name": "SLC25A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBX3-1", "protein_name": "Mitochondrial dicarboxylate carrier", "gene_name": "SLC25A10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38937634", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport.", "journal": "Molecular metabolism", "date": "2024-12", "authors": "Tavoulari Sotiria, Lacabanne Denis, Pereira Gon\u00e7alo C, Thangaratnarajah Chancievan, King Martin S, He Jiuya, Chowdhury Suvagata R, Tilokani Lisa, Palmer Shane M, Prudent Julien, Walker John E, Kunji Edmund R S", "reference": { "type": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UJS0-1", "protein_name": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial", "gene_name": "SLC25A13", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 139, "end_pos": 139, "sequence_org": "G", "sequence_mut": "R", "comment": "Reduces transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 176, "end_pos": 176, "sequence_org": "G", "sequence_mut": "V", "comment": "Reduces transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 25, "end_pos": 25, "sequence_org": "A", "sequence_mut": "E", "comment": "Reduces transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 350, "end_pos": 350, "sequence_org": "D", "sequence_mut": "N", "comment": "Reduces transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 355, "end_pos": 355, "sequence_org": "R", "sequence_mut": "G", "comment": "Reduces transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 393, "end_pos": 393, "sequence_org": "G", "sequence_mut": "S", "comment": "Reduces transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 39, "end_pos": 39, "sequence_org": "D", "sequence_mut": "T", "comment": "No effect on mitochondrial localization.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 405, "end_pos": 405, "sequence_org": "K", "sequence_mut": "N", "comment": "Abolishes transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 453, "end_pos": 453, "sequence_org": "K", "sequence_mut": "R", "comment": "Slightly reduces transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 455, "end_pos": 455, "sequence_org": "R", "sequence_mut": "L", "comment": "Abolishes transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 489, "end_pos": 489, "sequence_org": "C", "sequence_mut": "R", "comment": "Abolishes transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 493, "end_pos": 493, "sequence_org": "D", "sequence_mut": "G", "comment": "Abolishes transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 500, "end_pos": 500, "sequence_org": "Y", "sequence_mut": "D", "comment": "Primarily cytoplasmic.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 531, "end_pos": 531, "sequence_org": "G", "sequence_mut": "D", "comment": "Reduces transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 546, "end_pos": 546, "sequence_org": "T", "sequence_mut": "R", "comment": "Abolishes transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 585, "end_pos": 585, "sequence_org": "R", "sequence_mut": "H", "comment": "Abolishes transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 588, "end_pos": 588, "sequence_org": "R", "sequence_mut": "P", "comment": "Reduces mitochondrial localization.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 588, "end_pos": 588, "sequence_org": "R", "sequence_mut": "Q", "comment": "Abolishes transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 598, "end_pos": 598, "sequence_org": "L", "sequence_mut": "R", "comment": "Reduces transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 66, "end_pos": 66, "sequence_org": "D", "sequence_mut": "A", "comment": "Does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with A-68, A-70 and A-77.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 68, "end_pos": 68, "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with A-66, A-70 and A-77.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 70, "end_pos": 70, "sequence_org": "D", "sequence_mut": "A", "comment": "Does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with A-66, A-68 and A-77.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 74, "end_pos": 74, "sequence_org": "S", "sequence_mut": "F", "comment": "Slightly reduces transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 77, "end_pos": 77, "sequence_org": "E", "sequence_mut": "A", "comment": "Does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with A-66, A-68 and A-70.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 85, "end_pos": 85, "sequence_org": "L", "sequence_mut": "P", "comment": "Increases transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" }, { "start_pos": 95, "end_pos": 95, "sequence_org": "A", "sequence_mut": "D", "comment": "Reduces transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UJS0", "url": "https://www.uniprot.org/uniprotkb/Q9UJS0" }, { "database": "PubMed", "id": "39419476", "url": "https://pubmed.ncbi.nlm.nih.gov/39419476" } ], "uniprot_canonical_ac": "Q9UJS0-1" } ], "record_id": "pubmed.39419476", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.", "journal": "Genome Biol.", "date": "2012", "authors": "Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M, van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP, Nijtmans LG, Huynen MA", "reference": { "type": "PubMed", "id": "22356826", "url": "https://pubmed.ncbi.nlm.nih.gov/22356826" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5JTJ3-1", "protein_name": "Cytochrome c oxidase assembly factor 6 homolog", "gene_name": "COA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WW8-1", "protein_name": "Cytochrome c oxidase assembly factor 5", "gene_name": "COA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5RI15-1", "protein_name": "Cytochrome c oxidase assembly protein COX20, mitochondrial", "gene_name": "COX20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DJE0-1", "protein_name": "Protein PET100 homolog, mitochondrial", "gene_name": "Pet100", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P0DJ07-1", "protein_name": "Protein PET100 homolog, mitochondrial", "gene_name": "PET100", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZY4-1", "protein_name": "Cytochrome c oxidase assembly factor 1 homolog", "gene_name": "COA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14406-1", "protein_name": "Cytochrome c oxidase subunit 7A2, mitochondrial", "gene_name": "COX7A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96I36-1", "protein_name": "Cytochrome c oxidase assembly protein COX14", "gene_name": "COX14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y2R0-1", "protein_name": "Cytochrome c oxidase assembly factor 3 homolog, mitochondrial", "gene_name": "COA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14061-1", "protein_name": "Cytochrome c oxidase copper chaperone", "gene_name": "COX17", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UWS5-1", "protein_name": "Protein PET117 homolog, mitochondrial", "gene_name": "PET117", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JTJ3", "url": "https://www.uniprot.org/uniprotkb/Q5JTJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22356826", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 11 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency.", "journal": "Human molecular genetics", "date": "2014", "authors": "Ghosh A, Trivedi PP, Timbalia SA, Griffin AT, Rahn JJ, Chan SS, Gohil VM", "reference": { "type": "PubMed", "id": "24549041", "url": "https://pubmed.ncbi.nlm.nih.gov/24549041" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5JTJ3-1", "protein_name": "Cytochrome c oxidase assembly factor 6 homolog", "gene_name": "COA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "B8A5J2-1", "protein_name": "Cytochrome c oxidase assembly factor 6 homolog", "gene_name": "coa6", "tax_name": "Zebrafish" }, { "uniprot_canonical_ac": "Q3E846-1", "protein_name": "Cytochrome c oxidase assembly factor 6", "gene_name": "COA6", "tax_name": "Baker's yeast" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JTJ3", "url": "https://www.uniprot.org/uniprotkb/Q5JTJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 25, "end_pos": 25, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of function. Localizes correctly to the mitochondrion, but reduces the steady-state level of the protein in the mitochondrial fraction.", "evidence": [ { "database": "UniProtKB", "id": "Q3E846", "url": "https://www.uniprot.org/uniprotkb/Q3E846" }, { "database": "PubMed", "id": "24549041", "url": "https://pubmed.ncbi.nlm.nih.gov/24549041" } ], "uniprot_canonical_ac": "Q3E846-1" } ], "record_id": "pubmed.24549041", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.", "journal": "Human mutation", "date": "2015", "authors": "Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ", "reference": { "type": "PubMed", "id": "25339201", "url": "https://pubmed.ncbi.nlm.nih.gov/25339201" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5JTJ3-1", "protein_name": "Cytochrome c oxidase assembly factor 6 homolog", "gene_name": "COA6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JTJ3", "url": "https://www.uniprot.org/uniprotkb/Q5JTJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25339201", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2.", "journal": "Human molecular genetics", "date": "2015", "authors": "Stroud DA, Maher MJ, Lindau C, Vogtle FN, Frazier AE, Surgenor E, Mountford H, Singh AP, Bonas M, Oeljeklaus S, Warscheid B, Meisinger C, Thorburn DR, Ryan MT", "reference": { "type": "PubMed", "id": "26160915", "url": "https://pubmed.ncbi.nlm.nih.gov/26160915" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5JTJ3-1", "protein_name": "Cytochrome c oxidase assembly factor 6 homolog", "gene_name": "COA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75880-1", "protein_name": "Cytochrome c oxidase assembly factor SCO1", "gene_name": "SCO1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JTJ3", "url": "https://www.uniprot.org/uniprotkb/Q5JTJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26160915", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "What Role Does COA6 Play in Cytochrome C Oxidase Biogenesis: A Metallochaperone or Thiol Oxidoreductase, or Both?", "journal": "International journal of molecular sciences", "date": "2020", "authors": "Maghool S, Ryan MT, Maher MJ", "reference": { "type": "PubMed", "id": "32977416", "url": "https://pubmed.ncbi.nlm.nih.gov/32977416" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5JTJ3-1", "protein_name": "Cytochrome c oxidase assembly factor 6 homolog", "gene_name": "COA6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JTJ3", "url": "https://www.uniprot.org/uniprotkb/Q5JTJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32977416", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "High Expression of COA6 Is Related to Unfavorable Prognosis and Enhanced Oxidative Phosphorylation in Lung Adenocarcinoma.", "journal": "International journal of molecular sciences", "date": "2023-03-16", "authors": "Zhang Ming, Liao Xiaohua, Ji Guanxu, Fan Xianming, Wu Qiang", "reference": { "type": "PubMed", "id": "36982777", "url": "https://pubmed.ncbi.nlm.nih.gov/36982777" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5JTJ3-1", "protein_name": "Cytochrome c oxidase assembly factor 6 homolog", "gene_name": "COA6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JTJ3", "url": "https://www.uniprot.org/uniprotkb/Q5JTJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36982777", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Pan-cancer analysis reveals potential immunological and prognostic roles of COA6 in human cancers and preliminary exploration of COA6 in bladder cancer.", "journal": "Cellular signalling", "date": "2024-05", "authors": "Luo Hong, Wang Zhiyong", "reference": { "type": "PubMed", "id": "38395184", "url": "https://pubmed.ncbi.nlm.nih.gov/38395184" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5JTJ3-1", "protein_name": "Cytochrome c oxidase assembly factor 6 homolog", "gene_name": "COA6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JTJ3", "url": "https://www.uniprot.org/uniprotkb/Q5JTJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38395184", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Crystal structure of a human Mob1 protein: toward understanding Mob-regulated cell cycle pathways.", "journal": "Structure", "date": "2003", "authors": "Stavridi ES, Harris KG, Huyen Y, Bothos J, Verwoerd PM, Stayrook SE, Pavletich NP, Jeffrey PD, Luca FC", "reference": { "type": "PubMed", "id": "12962634", "url": "https://pubmed.ncbi.nlm.nih.gov/12962634" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8S9-1", "protein_name": "MOB kinase activator 1A", "gene_name": "MOB1A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12962634", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Control of cell proliferation and apoptosis by mob as tumor suppressor, mats.", "journal": "Cell", "date": "2005", "authors": "Lai ZC, Wei X, Shimizu T, Ramos E, Rohrbaugh M, Nikolaidis N, Ho LL, Li Y", "reference": { "type": "PubMed", "id": "15766530", "url": "https://pubmed.ncbi.nlm.nih.gov/15766530" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8S9-1", "protein_name": "MOB kinase activator 1A", "gene_name": "MOB1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9VCR6-1", "protein_name": "Scaffold protein salvador", "gene_name": "sav", "tax_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q9VA38-1", "protein_name": "Serine/threonine-protein kinase Warts", "gene_name": "wts", "tax_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q8T0S6-1", "protein_name": "Serine/threonine-protein kinase hippo", "gene_name": "hpo", "tax_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q95RA8-1", "protein_name": "MOB kinase activator-like 1", "gene_name": "mats", "tax_name": "Fruit fly" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15766530", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Roles of mammalian sterile 20-like kinase 2-dependent phosphorylations of Mps one binder 1B in the activation of nuclear Dbf2-related kinases.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2009", "authors": "Bao Y, Sumita K, Kudo T, Withanage K, Nakagawa K, Ikeda M, Ohno K, Wang Y, Hata Y", "reference": { "type": "PubMed", "id": "19919647", "url": "https://pubmed.ncbi.nlm.nih.gov/19919647" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8S9-1", "protein_name": "MOB kinase activator 1A", "gene_name": "MOB1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7L9L4-1", "protein_name": "MOB kinase activator 1B", "gene_name": "MOB1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 12, "end_pos": 12, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" }, { "database": "PubMed", "id": "18328708", "url": "https://pubmed.ncbi.nlm.nih.gov/18328708" }, { "database": "PRO", "id": "Q9H8S9", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9H8S9" }, { "database": "iPTMnet", "id": "Q9H8S9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H8S9" }, { "database": "PubMed", "id": "19919647", "url": "https://pubmed.ncbi.nlm.nih.gov/19919647" } ], "site_lbl": "Thr12", "uniprot_canonical_ac": "Q9H8S9-1" }, { "start_pos": 35, "end_pos": 35, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" }, { "database": "PubMed", "id": "18328708", "url": "https://pubmed.ncbi.nlm.nih.gov/18328708" }, { "database": "iPTMnet", "id": "Q9H8S9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H8S9" }, { "database": "PubMed", "id": "18212344", "url": "https://pubmed.ncbi.nlm.nih.gov/18212344" }, { "database": "PubMed", "id": "18669648", "url": "https://pubmed.ncbi.nlm.nih.gov/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://pubmed.ncbi.nlm.nih.gov/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://pubmed.ncbi.nlm.nih.gov/20068231" }, { "database": "PRO", "id": "Q9H8S9", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9H8S9" }, { "database": "PubMed", "id": "19919647", "url": "https://pubmed.ncbi.nlm.nih.gov/19919647" }, { "database": "PubMed", "id": "27555231", "url": "https://pubmed.ncbi.nlm.nih.gov/27555231" }, { "database": "PubMed", "id": "32973917", "url": "https://pubmed.ncbi.nlm.nih.gov/32973917" } ], "site_lbl": "Thr35", "uniprot_canonical_ac": "Q9H8S9-1" }, { "start_pos": 12, "end_pos": 12, "kinase_uniprot_canonical_ac": "Q13188-1", "kinase_gene_name": "STK3", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q7L9L4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7L9L4" }, { "database": "PubMed", "id": "19878874", "url": "https://pubmed.ncbi.nlm.nih.gov/19878874" }, { "database": "PubMed", "id": "19919647", "url": "https://pubmed.ncbi.nlm.nih.gov/19919647" }, { "database": "PubMed", "id": "21808241", "url": "https://pubmed.ncbi.nlm.nih.gov/21808241" }, { "database": "PubMed", "id": "23431053", "url": "https://pubmed.ncbi.nlm.nih.gov/23431053" } ], "site_lbl": "Thr12", "uniprot_canonical_ac": "Q7L9L4-1" }, { "start_pos": 35, "end_pos": 35, "kinase_uniprot_canonical_ac": "Q13188-1", "kinase_gene_name": "STK3", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q7L9L4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7L9L4" }, { "database": "PubMed", "id": "19878874", "url": "https://pubmed.ncbi.nlm.nih.gov/19878874" }, { "database": "PubMed", "id": "19919647", "url": "https://pubmed.ncbi.nlm.nih.gov/19919647" }, { "database": "PubMed", "id": "21808241", "url": "https://pubmed.ncbi.nlm.nih.gov/21808241" }, { "database": "PubMed", "id": "23431053", "url": "https://pubmed.ncbi.nlm.nih.gov/23431053" } ], "site_lbl": "Thr35", "uniprot_canonical_ac": "Q7L9L4-1" }, { "start_pos": 74, "end_pos": 74, "kinase_uniprot_canonical_ac": "Q13188-1", "kinase_gene_name": "STK3", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q7L9L4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7L9L4" }, { "database": "PubMed", "id": "19878874", "url": "https://pubmed.ncbi.nlm.nih.gov/19878874" }, { "database": "PubMed", "id": "19919647", "url": "https://pubmed.ncbi.nlm.nih.gov/19919647" } ], "site_lbl": "Thr74", "uniprot_canonical_ac": "Q7L9L4-1" }, { "start_pos": 74, "end_pos": 74, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q7L9L4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7L9L4" }, { "database": "PubMed", "id": "19919647", "url": "https://pubmed.ncbi.nlm.nih.gov/19919647" } ], "site_lbl": "Thr74", "uniprot_canonical_ac": "Q7L9L4-1" } ], "record_id": "pubmed.19919647", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular chaperone Hsp27 regulates the Hippo tumor suppressor pathway in cancer.", "journal": "Scientific reports", "date": "2016", "authors": "Vahid S, Thaper D, Gibson KF, Bishop JL, Zoubeidi A", "reference": { "type": "PubMed", "id": "27555231", "url": "https://pubmed.ncbi.nlm.nih.gov/27555231" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8S9-1", "protein_name": "MOB kinase activator 1A", "gene_name": "MOB1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95835-1", "protein_name": "Serine/threonine-protein kinase LATS1", "gene_name": "LATS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46937-1", "protein_name": "Transcriptional coactivator YAP1", "gene_name": "YAP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 35, "end_pos": 35, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" }, { "database": "PubMed", "id": "18328708", "url": "https://pubmed.ncbi.nlm.nih.gov/18328708" }, { "database": "iPTMnet", "id": "Q9H8S9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H8S9" }, { "database": "PubMed", "id": "18212344", "url": "https://pubmed.ncbi.nlm.nih.gov/18212344" }, { "database": "PubMed", "id": "18669648", "url": "https://pubmed.ncbi.nlm.nih.gov/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://pubmed.ncbi.nlm.nih.gov/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://pubmed.ncbi.nlm.nih.gov/20068231" }, { "database": "PRO", "id": "Q9H8S9", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9H8S9" }, { "database": "PubMed", "id": "19919647", "url": "https://pubmed.ncbi.nlm.nih.gov/19919647" }, { "database": "PubMed", "id": "27555231", "url": "https://pubmed.ncbi.nlm.nih.gov/27555231" }, { "database": "PubMed", "id": "32973917", "url": "https://pubmed.ncbi.nlm.nih.gov/32973917" } ], "site_lbl": "Thr35", "uniprot_canonical_ac": "Q9H8S9-1" }, { "start_pos": 1079, "end_pos": 1079, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by STK3/MST2", "evidence": [ { "database": "UniProtKB", "id": "O95835", "url": "https://www.uniprot.org/uniprotkb/O95835" }, { "database": "IEDB", "id": "O95835", "url": "https://www.iedb.org/epitope/O95835" }, { "database": "iPTMnet", "id": "O95835", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95835" }, { "database": "PubMed", "id": "32357974", "url": "https://pubmed.ncbi.nlm.nih.gov/32357974" }, { "database": "PubMed", "id": "24356468", "url": "https://pubmed.ncbi.nlm.nih.gov/24356468" }, { "database": "PubMed", "id": "25723520", "url": "https://pubmed.ncbi.nlm.nih.gov/25723520" }, { "database": "PubMed", "id": "27555231", "url": "https://pubmed.ncbi.nlm.nih.gov/27555231" }, { "database": "PubMed", "id": "27847303", "url": "https://pubmed.ncbi.nlm.nih.gov/27847303" }, { "database": "PubMed", "id": "30800215", "url": "https://pubmed.ncbi.nlm.nih.gov/30800215" }, { "database": "PubMed", "id": "30863499", "url": "https://pubmed.ncbi.nlm.nih.gov/30863499" }, { "database": "PubMed", "id": "33672268", "url": "https://pubmed.ncbi.nlm.nih.gov/33672268" }, { "database": "PubMed", "id": "15688006", "url": "https://pubmed.ncbi.nlm.nih.gov/15688006" }, { "database": "PubMed", "id": "28087714", "url": "https://pubmed.ncbi.nlm.nih.gov/28087714" } ], "site_lbl": "Thr1079", "uniprot_canonical_ac": "O95835-1" }, { "start_pos": 127, "end_pos": 127, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by LATS1 and LATS2", "evidence": [ { "database": "UniProtKB", "id": "P46937", "url": "https://www.uniprot.org/uniprotkb/P46937" }, { "database": "IEDB", "id": "P46937", "url": "https://www.iedb.org/epitope/P46937" }, { "database": "iPTMnet", "id": "P46937", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46937" }, { "database": "PubMed", "id": "27869121", "url": "https://pubmed.ncbi.nlm.nih.gov/27869121" }, { "database": "PubMed", "id": "31848261", "url": "https://pubmed.ncbi.nlm.nih.gov/31848261" }, { "database": "PRO", "id": "P46937", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P46937" }, { "database": "PubMed", "id": "20153295", "url": "https://pubmed.ncbi.nlm.nih.gov/20153295" }, { "database": "PubMed", "id": "21214929", "url": "https://pubmed.ncbi.nlm.nih.gov/21214929" }, { "database": "PubMed", "id": "21945154", "url": "https://pubmed.ncbi.nlm.nih.gov/21945154" }, { "database": "PubMed", "id": "12535517", "url": "https://pubmed.ncbi.nlm.nih.gov/12535517" }, { "database": "PubMed", "id": "18725387", "url": "https://pubmed.ncbi.nlm.nih.gov/18725387" }, { "database": "PubMed", "id": "19878874", "url": "https://pubmed.ncbi.nlm.nih.gov/19878874" }, { "database": "PubMed", "id": "20048001", "url": "https://pubmed.ncbi.nlm.nih.gov/20048001" }, { "database": "PubMed", "id": "20729916", "url": "https://pubmed.ncbi.nlm.nih.gov/20729916" }, { "database": "PubMed", "id": "20823509", "url": "https://pubmed.ncbi.nlm.nih.gov/20823509" }, { "database": "PubMed", "id": "21224387", "url": "https://pubmed.ncbi.nlm.nih.gov/21224387" }, { "database": "PubMed", "id": "21730131", "url": "https://pubmed.ncbi.nlm.nih.gov/21730131" }, { "database": "PubMed", "id": "21909427", "url": "https://pubmed.ncbi.nlm.nih.gov/21909427" }, { "database": "PubMed", "id": "22329991", "url": "https://pubmed.ncbi.nlm.nih.gov/22329991" }, { "database": "PubMed", "id": "22614006", "url": "https://pubmed.ncbi.nlm.nih.gov/22614006" }, { "database": "PubMed", "id": "22761457", "url": "https://pubmed.ncbi.nlm.nih.gov/22761457" }, { "database": "PubMed", "id": "22884261", "url": "https://pubmed.ncbi.nlm.nih.gov/22884261" }, { "database": "PubMed", "id": "23593160", "url": "https://pubmed.ncbi.nlm.nih.gov/23593160" }, { "database": "PubMed", "id": "23708000", "url": "https://pubmed.ncbi.nlm.nih.gov/23708000" }, { "database": "PubMed", "id": "23727052", "url": "https://pubmed.ncbi.nlm.nih.gov/23727052" }, { "database": "PubMed", "id": "23857250", "url": "https://pubmed.ncbi.nlm.nih.gov/23857250" }, { "database": "PubMed", "id": "23928732", "url": "https://pubmed.ncbi.nlm.nih.gov/23928732" }, { "database": "PubMed", "id": "24040060", "url": "https://pubmed.ncbi.nlm.nih.gov/24040060" }, { "database": "PubMed", "id": "24356468", "url": "https://pubmed.ncbi.nlm.nih.gov/24356468" }, { "database": "PubMed", "id": "24509725", "url": "https://pubmed.ncbi.nlm.nih.gov/24509725" }, { "database": "PubMed", "id": "24525530", "url": "https://pubmed.ncbi.nlm.nih.gov/24525530" }, { "database": "PubMed", "id": "24621512", "url": "https://pubmed.ncbi.nlm.nih.gov/24621512" }, { "database": "PubMed", "id": "25317030", "url": "https://pubmed.ncbi.nlm.nih.gov/25317030" }, { "database": "PubMed", "id": "25393475", "url": "https://pubmed.ncbi.nlm.nih.gov/25393475" }, { "database": "PubMed", "id": "25601544", "url": "https://pubmed.ncbi.nlm.nih.gov/25601544" }, { "database": "PubMed", "id": "25751139", "url": "https://pubmed.ncbi.nlm.nih.gov/25751139" }, { "database": "PubMed", "id": "25751140", "url": "https://pubmed.ncbi.nlm.nih.gov/25751140" }, { "database": "PubMed", "id": "26265440", "url": "https://pubmed.ncbi.nlm.nih.gov/26265440" }, { "database": "PubMed", "id": "26269582", "url": "https://pubmed.ncbi.nlm.nih.gov/26269582" }, { "database": "PubMed", "id": "26364602", "url": "https://pubmed.ncbi.nlm.nih.gov/26364602" }, { "database": "PubMed", "id": "26417066", "url": "https://pubmed.ncbi.nlm.nih.gov/26417066" }, { "database": "PubMed", "id": "26567630", "url": "https://pubmed.ncbi.nlm.nih.gov/26567630" }, { "database": "PubMed", "id": "26625308", "url": "https://pubmed.ncbi.nlm.nih.gov/26625308" }, { "database": "PubMed", "id": "26625714", "url": "https://pubmed.ncbi.nlm.nih.gov/26625714" }, { "database": "PubMed", "id": "26806348", "url": "https://pubmed.ncbi.nlm.nih.gov/26806348" }, { "database": "PubMed", "id": "26843620", "url": "https://pubmed.ncbi.nlm.nih.gov/26843620" }, { "database": "PubMed", "id": "26876920", "url": "https://pubmed.ncbi.nlm.nih.gov/26876920" }, { "database": "PubMed", "id": "26967905", "url": "https://pubmed.ncbi.nlm.nih.gov/26967905" }, { "database": "PubMed", "id": "27000077", "url": "https://pubmed.ncbi.nlm.nih.gov/27000077" }, { "database": "PubMed", "id": "27009203", "url": "https://pubmed.ncbi.nlm.nih.gov/27009203" }, { "database": "PubMed", "id": "27030211", "url": "https://pubmed.ncbi.nlm.nih.gov/27030211" }, { "database": "PubMed", "id": "27034169", "url": "https://pubmed.ncbi.nlm.nih.gov/27034169" }, { "database": "PubMed", "id": "27065882", "url": "https://pubmed.ncbi.nlm.nih.gov/27065882" }, { "database": "PubMed", "id": "27144834", "url": "https://pubmed.ncbi.nlm.nih.gov/27144834" }, { "database": "PubMed", "id": "27203549", "url": "https://pubmed.ncbi.nlm.nih.gov/27203549" }, { "database": "PubMed", "id": "27205883", "url": "https://pubmed.ncbi.nlm.nih.gov/27205883" }, { "database": "PubMed", "id": "27206784", "url": "https://pubmed.ncbi.nlm.nih.gov/27206784" }, { "database": "PubMed", "id": "27324437", "url": "https://pubmed.ncbi.nlm.nih.gov/27324437" }, { "database": "PubMed", "id": "27334574", "url": "https://pubmed.ncbi.nlm.nih.gov/27334574" }, { "database": "PubMed", "id": "27336605", "url": "https://pubmed.ncbi.nlm.nih.gov/27336605" }, { "database": "PubMed", "id": "27380321", "url": "https://pubmed.ncbi.nlm.nih.gov/27380321" }, { "database": "PubMed", "id": "27409837", "url": "https://pubmed.ncbi.nlm.nih.gov/27409837" }, { "database": "PubMed", "id": "27457617", "url": "https://pubmed.ncbi.nlm.nih.gov/27457617" }, { "database": "PubMed", "id": "27462448", "url": "https://pubmed.ncbi.nlm.nih.gov/27462448" }, { "database": "PubMed", "id": "27476430", "url": "https://pubmed.ncbi.nlm.nih.gov/27476430" }, { "database": "PubMed", "id": "27488962", "url": "https://pubmed.ncbi.nlm.nih.gov/27488962" }, { "database": "PubMed", "id": "27555231", "url": "https://pubmed.ncbi.nlm.nih.gov/27555231" }, { "database": "PubMed", "id": "27556512", "url": "https://pubmed.ncbi.nlm.nih.gov/27556512" }, { "database": "PubMed", "id": "27566107", "url": "https://pubmed.ncbi.nlm.nih.gov/27566107" }, { "database": "PubMed", "id": "27634386", "url": "https://pubmed.ncbi.nlm.nih.gov/27634386" }, { "database": "PubMed", "id": "27669292", "url": "https://pubmed.ncbi.nlm.nih.gov/27669292" }, { "database": "PubMed", "id": "27871934", "url": "https://pubmed.ncbi.nlm.nih.gov/27871934" }, { "database": "PubMed", "id": "27907036", "url": "https://pubmed.ncbi.nlm.nih.gov/27907036" }, { "database": "PubMed", "id": "27911857", "url": "https://pubmed.ncbi.nlm.nih.gov/27911857" }, { "database": "PubMed", "id": "28065575", "url": "https://pubmed.ncbi.nlm.nih.gov/28065575" }, { "database": "PubMed", "id": "28076850", "url": "https://pubmed.ncbi.nlm.nih.gov/28076850" }, { "database": "PubMed", "id": "28098159", "url": "https://pubmed.ncbi.nlm.nih.gov/28098159" }, { "database": "PubMed", "id": "28102225", "url": "https://pubmed.ncbi.nlm.nih.gov/28102225" }, { "database": "PubMed", "id": "28169360", "url": "https://pubmed.ncbi.nlm.nih.gov/28169360" }, { "database": "PubMed", "id": "28239148", "url": "https://pubmed.ncbi.nlm.nih.gov/28239148" }, { "database": "PubMed", "id": "28332498", "url": "https://pubmed.ncbi.nlm.nih.gov/28332498" }, { "database": "PubMed", "id": "28339095", "url": "https://pubmed.ncbi.nlm.nih.gov/28339095" }, { "database": "PubMed", "id": "28376152", "url": "https://pubmed.ncbi.nlm.nih.gov/28376152" }, { "database": "PubMed", "id": "28406163", "url": "https://pubmed.ncbi.nlm.nih.gov/28406163" }, { "database": "PubMed", "id": "28420424", "url": "https://pubmed.ncbi.nlm.nih.gov/28420424" }, { "database": "PubMed", "id": "28454447", "url": "https://pubmed.ncbi.nlm.nih.gov/28454447" }, { "database": "PubMed", "id": "28464980", "url": "https://pubmed.ncbi.nlm.nih.gov/28464980" }, { "database": "PubMed", "id": "28470935", "url": "https://pubmed.ncbi.nlm.nih.gov/28470935" }, { "database": "PubMed", "id": "28671675", "url": "https://pubmed.ncbi.nlm.nih.gov/28671675" }, { "database": "PubMed", "id": "28708445", "url": "https://pubmed.ncbi.nlm.nih.gov/28708445" }, { "database": "PubMed", "id": "28725753", "url": "https://pubmed.ncbi.nlm.nih.gov/28725753" }, { "database": "PubMed", "id": "28745364", "url": "https://pubmed.ncbi.nlm.nih.gov/28745364" }, { "database": "PubMed", "id": "28757481", "url": "https://pubmed.ncbi.nlm.nih.gov/28757481" }, { "database": "PubMed", "id": "28815883", "url": "https://pubmed.ncbi.nlm.nih.gov/28815883" }, { "database": "PubMed", "id": "28827520", "url": "https://pubmed.ncbi.nlm.nih.gov/28827520" }, { "database": "PubMed", "id": "28923839", "url": "https://pubmed.ncbi.nlm.nih.gov/28923839" }, { "database": "PubMed", "id": "28951205", "url": "https://pubmed.ncbi.nlm.nih.gov/28951205" }, { "database": "PubMed", "id": "28969054", "url": "https://pubmed.ncbi.nlm.nih.gov/28969054" }, { "database": "PubMed", "id": "29066438", "url": "https://pubmed.ncbi.nlm.nih.gov/29066438" }, { "database": "PubMed", "id": "29069755", "url": "https://pubmed.ncbi.nlm.nih.gov/29069755" }, { "database": "PubMed", "id": "29093443", "url": "https://pubmed.ncbi.nlm.nih.gov/29093443" }, { "database": "PubMed", "id": "29136529", "url": "https://pubmed.ncbi.nlm.nih.gov/29136529" }, { "database": "PubMed", "id": "29154888", "url": "https://pubmed.ncbi.nlm.nih.gov/29154888" }, { "database": "PubMed", "id": "29212185", "url": "https://pubmed.ncbi.nlm.nih.gov/29212185" }, { "database": "PubMed", "id": "29228705", "url": "https://pubmed.ncbi.nlm.nih.gov/29228705" }, { "database": "PubMed", "id": "29296196", "url": "https://pubmed.ncbi.nlm.nih.gov/29296196" }, { "database": "PubMed", "id": "29339449", "url": "https://pubmed.ncbi.nlm.nih.gov/29339449" }, { "database": "PubMed", "id": "29487715", "url": "https://pubmed.ncbi.nlm.nih.gov/29487715" }, { "database": "PubMed", "id": "29496737", "url": "https://pubmed.ncbi.nlm.nih.gov/29496737" }, { "database": "PubMed", "id": "29535383", "url": "https://pubmed.ncbi.nlm.nih.gov/29535383" }, { "database": "PubMed", "id": "29562176", "url": "https://pubmed.ncbi.nlm.nih.gov/29562176" }, { "database": "PubMed", "id": "29725063", "url": "https://pubmed.ncbi.nlm.nih.gov/29725063" }, { "database": "PubMed", "id": "29758328", "url": "https://pubmed.ncbi.nlm.nih.gov/29758328" }, { "database": "PubMed", "id": "29891922", "url": "https://pubmed.ncbi.nlm.nih.gov/29891922" }, { "database": "PubMed", "id": "29895829", "url": "https://pubmed.ncbi.nlm.nih.gov/29895829" }, { "database": "PubMed", "id": "29903769", "url": "https://pubmed.ncbi.nlm.nih.gov/29903769" }, { "database": "PubMed", "id": "29909276", "url": "https://pubmed.ncbi.nlm.nih.gov/29909276" }, { "database": "PubMed", "id": "29930727", "url": "https://pubmed.ncbi.nlm.nih.gov/29930727" }, { "database": "PubMed", "id": "30037330", "url": "https://pubmed.ncbi.nlm.nih.gov/30037330" }, { "database": "PubMed", "id": "30139767", "url": "https://pubmed.ncbi.nlm.nih.gov/30139767" }, { "database": "PubMed", "id": "30250159", "url": "https://pubmed.ncbi.nlm.nih.gov/30250159" }, { "database": "PubMed", "id": "30272278", "url": "https://pubmed.ncbi.nlm.nih.gov/30272278" }, { "database": "PubMed", "id": "30404014", "url": "https://pubmed.ncbi.nlm.nih.gov/30404014" }, { "database": "PubMed", "id": "30446657", "url": "https://pubmed.ncbi.nlm.nih.gov/30446657" }, { "database": "PubMed", "id": "30466467", "url": "https://pubmed.ncbi.nlm.nih.gov/30466467" }, { "database": "PubMed", "id": "30504771", "url": "https://pubmed.ncbi.nlm.nih.gov/30504771" }, { "database": "PubMed", "id": "30559289", "url": "https://pubmed.ncbi.nlm.nih.gov/30559289" }, { "database": "PubMed", "id": "30565133", "url": "https://pubmed.ncbi.nlm.nih.gov/30565133" }, { "database": "PubMed", "id": "30566960", "url": "https://pubmed.ncbi.nlm.nih.gov/30566960" }, { "database": "PubMed", "id": "30574018", "url": "https://pubmed.ncbi.nlm.nih.gov/30574018" }, { "database": "PubMed", "id": "30618636", "url": "https://pubmed.ncbi.nlm.nih.gov/30618636" }, { "database": "PubMed", "id": "30631061", "url": "https://pubmed.ncbi.nlm.nih.gov/30631061" }, { "database": "PubMed", "id": "30824374", "url": "https://pubmed.ncbi.nlm.nih.gov/30824374" }, { "database": "PubMed", "id": "30833665", "url": "https://pubmed.ncbi.nlm.nih.gov/30833665" }, { "database": "PubMed", "id": "30865227", "url": "https://pubmed.ncbi.nlm.nih.gov/30865227" }, { "database": "PubMed", "id": "30935014", "url": "https://pubmed.ncbi.nlm.nih.gov/30935014" }, { "database": "PubMed", "id": "30948712", "url": "https://pubmed.ncbi.nlm.nih.gov/30948712" }, { "database": "PubMed", "id": "31015465", "url": "https://pubmed.ncbi.nlm.nih.gov/31015465" }, { "database": "PubMed", "id": "31076104", "url": "https://pubmed.ncbi.nlm.nih.gov/31076104" }, { "database": "PubMed", "id": "31100067", "url": "https://pubmed.ncbi.nlm.nih.gov/31100067" }, { "database": "PubMed", "id": "31139191", "url": "https://pubmed.ncbi.nlm.nih.gov/31139191" }, { "database": "PubMed", "id": "31142342", "url": "https://pubmed.ncbi.nlm.nih.gov/31142342" }, { "database": "PubMed", "id": "31145543", "url": "https://pubmed.ncbi.nlm.nih.gov/31145543" }, { "database": "PubMed", "id": "31208368", "url": "https://pubmed.ncbi.nlm.nih.gov/31208368" }, { "database": "PubMed", "id": "31296870", "url": "https://pubmed.ncbi.nlm.nih.gov/31296870" }, { "database": "PubMed", "id": "31307004", "url": "https://pubmed.ncbi.nlm.nih.gov/31307004" }, { "database": "PubMed", "id": "31455378", "url": "https://pubmed.ncbi.nlm.nih.gov/31455378" }, { "database": "PubMed", "id": "31477715", "url": "https://pubmed.ncbi.nlm.nih.gov/31477715" }, { "database": "PubMed", "id": "31487690", "url": "https://pubmed.ncbi.nlm.nih.gov/31487690" }, { "database": "PubMed", "id": "31619268", "url": "https://pubmed.ncbi.nlm.nih.gov/31619268" }, { "database": "PubMed", "id": "31627466", "url": "https://pubmed.ncbi.nlm.nih.gov/31627466" }, { "database": "PubMed", "id": "31649888", "url": "https://pubmed.ncbi.nlm.nih.gov/31649888" }, { "database": "PubMed", "id": "31659153", "url": "https://pubmed.ncbi.nlm.nih.gov/31659153" }, { "database": "PubMed", "id": "31669263", "url": "https://pubmed.ncbi.nlm.nih.gov/31669263" }, { "database": "PubMed", "id": "31690112", "url": "https://pubmed.ncbi.nlm.nih.gov/31690112" }, { "database": "PubMed", "id": "31693448", "url": "https://pubmed.ncbi.nlm.nih.gov/31693448" }, { "database": "PubMed", "id": "31717606", "url": "https://pubmed.ncbi.nlm.nih.gov/31717606" }, { "database": "PubMed", "id": "31788086", "url": "https://pubmed.ncbi.nlm.nih.gov/31788086" }, { "database": "PubMed", "id": "31827075", "url": "https://pubmed.ncbi.nlm.nih.gov/31827075" }, { "database": "PubMed", "id": "31835563", "url": "https://pubmed.ncbi.nlm.nih.gov/31835563" }, { "database": "PubMed", "id": "31926547", "url": "https://pubmed.ncbi.nlm.nih.gov/31926547" }, { "database": "PubMed", "id": "31963871", "url": "https://pubmed.ncbi.nlm.nih.gov/31963871" }, { "database": "PubMed", "id": "32205868", "url": "https://pubmed.ncbi.nlm.nih.gov/32205868" }, { "database": "PubMed", "id": "32210573", "url": "https://pubmed.ncbi.nlm.nih.gov/32210573" }, { "database": "PubMed", "id": "32210629", "url": "https://pubmed.ncbi.nlm.nih.gov/32210629" }, { "database": "PubMed", "id": "32219176", "url": "https://pubmed.ncbi.nlm.nih.gov/32219176" }, { "database": "PubMed", "id": "32231000", "url": "https://pubmed.ncbi.nlm.nih.gov/32231000" }, { "database": "PubMed", "id": "32271880", "url": "https://pubmed.ncbi.nlm.nih.gov/32271880" }, { "database": "PubMed", "id": "32322664", "url": "https://pubmed.ncbi.nlm.nih.gov/32322664" }, { "database": "PubMed", "id": "32457342", "url": "https://pubmed.ncbi.nlm.nih.gov/32457342" }, { "database": "PubMed", "id": "32483419", "url": "https://pubmed.ncbi.nlm.nih.gov/32483419" }, { "database": "PubMed", "id": "32493454", "url": "https://pubmed.ncbi.nlm.nih.gov/32493454" }, { "database": "PubMed", "id": "32589311", "url": "https://pubmed.ncbi.nlm.nih.gov/32589311" }, { "database": "PubMed", "id": "32707998", "url": "https://pubmed.ncbi.nlm.nih.gov/32707998" }, { "database": "PubMed", "id": "32711570", "url": "https://pubmed.ncbi.nlm.nih.gov/32711570" }, { "database": "PubMed", "id": "32848033", "url": "https://pubmed.ncbi.nlm.nih.gov/32848033" }, { "database": "PubMed", "id": "32894161", "url": "https://pubmed.ncbi.nlm.nih.gov/32894161" }, { "database": "PubMed", "id": "33014146", "url": "https://pubmed.ncbi.nlm.nih.gov/33014146" }, { "database": "PubMed", "id": "33032653", "url": "https://pubmed.ncbi.nlm.nih.gov/33032653" }, { "database": "PubMed", "id": "33097058", "url": "https://pubmed.ncbi.nlm.nih.gov/33097058" }, { "database": "PubMed", "id": "33218077", "url": "https://pubmed.ncbi.nlm.nih.gov/33218077" }, { "database": "PubMed", "id": "33277245", "url": "https://pubmed.ncbi.nlm.nih.gov/33277245" }, { "database": "PubMed", "id": "33416116", "url": "https://pubmed.ncbi.nlm.nih.gov/33416116" }, { "database": "PubMed", "id": "33420363", "url": "https://pubmed.ncbi.nlm.nih.gov/33420363" }, { "database": "PubMed", "id": "33504879", "url": "https://pubmed.ncbi.nlm.nih.gov/33504879" }, { "database": "PubMed", "id": "33571521", "url": "https://pubmed.ncbi.nlm.nih.gov/33571521" }, { "database": "PubMed", "id": "33628300", "url": "https://pubmed.ncbi.nlm.nih.gov/33628300" }, { "database": "PubMed", "id": "33672268", "url": "https://pubmed.ncbi.nlm.nih.gov/33672268" }, { "database": "PubMed", "id": "33707576", "url": "https://pubmed.ncbi.nlm.nih.gov/33707576" }, { "database": "PubMed", "id": "33777675", "url": "https://pubmed.ncbi.nlm.nih.gov/33777675" }, { "database": "PubMed", "id": "33897882", "url": "https://pubmed.ncbi.nlm.nih.gov/33897882" }, { "database": "PubMed", "id": "33937255", "url": "https://pubmed.ncbi.nlm.nih.gov/33937255" }, { "database": "PubMed", "id": "34206989", "url": "https://pubmed.ncbi.nlm.nih.gov/34206989" }, { "database": "PubMed", "id": "34343153", "url": "https://pubmed.ncbi.nlm.nih.gov/34343153" }, { "database": "PubMed", "id": "35015027", "url": "https://pubmed.ncbi.nlm.nih.gov/35015027" }, { "database": "PubMed", "id": "35358489", "url": "https://pubmed.ncbi.nlm.nih.gov/35358489" }, { "database": "PubMed", "id": "35586495", "url": "https://pubmed.ncbi.nlm.nih.gov/35586495" }, { "database": "PubMed", "id": "35713503", "url": "https://pubmed.ncbi.nlm.nih.gov/35713503" }, { "database": "PubMed", "id": "36115593", "url": "https://pubmed.ncbi.nlm.nih.gov/36115593" }, { "database": "PubMed", "id": "36374802", "url": "https://pubmed.ncbi.nlm.nih.gov/36374802" }, { "database": "PubMed", "id": "18158288", "url": "https://pubmed.ncbi.nlm.nih.gov/18158288" }, { "database": "PubMed", "id": "18669648", "url": "https://pubmed.ncbi.nlm.nih.gov/18669648" }, { "database": "PubMed", "id": "17974916", "url": "https://pubmed.ncbi.nlm.nih.gov/17974916" } ], "site_lbl": "Ser127", "uniprot_canonical_ac": "P46937-1" } ], "record_id": "pubmed.27555231", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A Human Tyrosine Phosphatase Interactome Mapped by Proteomic Profiling.", "journal": "Journal of proteome research", "date": "2017", "authors": "Kumar P, Munnangi P, Chowdary KR, Shah VJ, Shinde SR, Kolli NR, Halehalli RR, Nagarajaram HA, Maddika S", "reference": { "type": "PubMed", "id": "28675297", "url": "https://pubmed.ncbi.nlm.nih.gov/28675297" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8S9-1", "protein_name": "MOB kinase activator 1A", "gene_name": "MOB1A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 26, "end_pos": 26, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H8S9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H8S9" }, { "database": "PubMed", "id": "28675297", "url": "https://pubmed.ncbi.nlm.nih.gov/28675297" } ], "site_lbl": "Tyr26", "uniprot_canonical_ac": "Q9H8S9-1" } ], "record_id": "pubmed.28675297", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "XMU-MP-1 induces growth arrest in a model human mini-organ and antagonises cell cycle-dependent paclitaxel cytotoxicity.", "journal": "Cell division", "date": "2020", "authors": "Mitchell Ellen, Mellor Charlotte E L, Purba Talveen S", "reference": { "type": "PubMed", "id": "32973917", "url": "https://pubmed.ncbi.nlm.nih.gov/32973917" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8S9-1", "protein_name": "MOB kinase activator 1A", "gene_name": "MOB1A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 35, "end_pos": 35, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" }, { "database": "PubMed", "id": "18328708", "url": "https://pubmed.ncbi.nlm.nih.gov/18328708" }, { "database": "iPTMnet", "id": "Q9H8S9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H8S9" }, { "database": "PubMed", "id": "18212344", "url": "https://pubmed.ncbi.nlm.nih.gov/18212344" }, { "database": "PubMed", "id": "18669648", "url": "https://pubmed.ncbi.nlm.nih.gov/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://pubmed.ncbi.nlm.nih.gov/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://pubmed.ncbi.nlm.nih.gov/20068231" }, { "database": "PRO", "id": "Q9H8S9", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9H8S9" }, { "database": "PubMed", "id": "19919647", "url": "https://pubmed.ncbi.nlm.nih.gov/19919647" }, { "database": "PubMed", "id": "27555231", "url": "https://pubmed.ncbi.nlm.nih.gov/27555231" }, { "database": "PubMed", "id": "32973917", "url": "https://pubmed.ncbi.nlm.nih.gov/32973917" } ], "site_lbl": "Thr35", "uniprot_canonical_ac": "Q9H8S9-1" } ], "record_id": "pubmed.32973917", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Circular RNA circCCDC85A inhibits breast cancer progression via acting as a miR-550a-5p sponge to enhance MOB1A expression.", "journal": "Breast cancer research : BCR", "date": "2022", "authors": "Meng L, Chang S, Sang Y, Ding P, Wang L, Nan X, Xu R, Liu F, Gu L, Zheng Y, Li Z, Sang M", "reference": { "type": "PubMed", "id": "34983617", "url": "https://pubmed.ncbi.nlm.nih.gov/34983617" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8S9-1", "protein_name": "MOB kinase activator 1A", "gene_name": "MOB1A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34983617", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Oxidative stress-CBP axis modulates MOB1 acetylation and activates the Hippo signaling pathway.", "journal": "Nucleic acids research", "date": "2022", "authors": "Jin J, Zhang L, Li X, Xu W, Yang S, Song J, Zhang W, Zhan J, Luo J, Zhang H", "reference": { "type": "PubMed", "id": "35349706", "url": "https://pubmed.ncbi.nlm.nih.gov/35349706" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8S9-1", "protein_name": "MOB kinase activator 1A", "gene_name": "MOB1A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35349706", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "CAF-derived exosomal WEE2-AS1 facilitates colorectal cancer progression via promoting degradation of MOB1A to inhibit the Hippo pathway.", "journal": "Cell death & disease", "date": "2022", "authors": "Yang P, Zhang D, Wang T, Ji J, Jin C, Peng C, Tan Y, Zhou J, Wang L, Feng Y, Sun Y", "reference": { "type": "PubMed", "id": "36123327", "url": "https://pubmed.ncbi.nlm.nih.gov/36123327" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8S9-1", "protein_name": "MOB kinase activator 1A", "gene_name": "MOB1A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8S9", "url": "https://www.uniprot.org/uniprotkb/Q9H8S9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36123327", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Nrac, a novel nutritionally-regulated adipose and cardiac-enriched gene.", "journal": "PloS one", "date": "2012", "authors": "Zhang R, Yao F, Gao F, Abou-Samra AB", "reference": { "type": "PubMed", "id": "23029450", "url": "https://pubmed.ncbi.nlm.nih.gov/23029450" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8N912-1", "protein_name": "Nutritionally-regulated adipose and cardiac enriched protein homolog", "gene_name": "C14orf180; NRAC", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8BNX7-1", "protein_name": "Nutritionally-regulated adipose and cardiac-enriched protein", "gene_name": "A530016L24Rik; Nrac", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N912", "url": "https://www.uniprot.org/uniprotkb/Q8N912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23029450", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2020", "authors": "El-Attar E, Kamel A, Karmouty A, Wehida N, Nassra R, El Nemr M, Kandil NS", "reference": { "type": "PubMed", "id": "32102525", "url": "https://pubmed.ncbi.nlm.nih.gov/32102525" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8M1-1", "protein_name": "Coenzyme Q-binding protein COQ10 homolog B, mitochondrial", "gene_name": "COQ10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96MF6-1", "protein_name": "Coenzyme Q-binding protein COQ10 homolog A, mitochondrial", "gene_name": "COQ10A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8M1", "url": "https://www.uniprot.org/uniprotkb/Q9H8M1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32102525", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.", "journal": "The Journal of pediatrics", "date": "2021", "authors": "Naess K, Bruhn H, Stranneheim H, Freyer C, Wibom R, Mourier A, Engvall M, Nennesmo I, Lesko N, Wredenberg A, Wedell A, von Dobeln U", "reference": { "type": "PubMed", "id": "32827528", "url": "https://pubmed.ncbi.nlm.nih.gov/32827528" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8M1-1", "protein_name": "Coenzyme Q-binding protein COQ10 homolog B, mitochondrial", "gene_name": "COQ10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96MF6-1", "protein_name": "Coenzyme Q-binding protein COQ10 homolog A, mitochondrial", "gene_name": "COQ10A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8M1", "url": "https://www.uniprot.org/uniprotkb/Q9H8M1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32827528", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Levels of Coenzyme Q(10) and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy.", "journal": "Biomolecules", "date": "2022", "authors": "Yen HC, Chen BS, Yang SL, Wu SY, Chang CW, Wei KC, Hsu JC, Hsu YH, Yen TH, Lin CL", "reference": { "type": "PubMed", "id": "35204836", "url": "https://pubmed.ncbi.nlm.nih.gov/35204836" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H8M1-1", "protein_name": "Coenzyme Q-binding protein COQ10 homolog B, mitochondrial", "gene_name": "COQ10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96MF6-1", "protein_name": "Coenzyme Q-binding protein COQ10 homolog A, mitochondrial", "gene_name": "COQ10A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8M1", "url": "https://www.uniprot.org/uniprotkb/Q9H8M1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35204836", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structural and biochemical characterization of the human cyclophilin family of peptidyl-prolyl isomerases.", "journal": "PLoS biology", "date": "2010", "authors": "Davis TL, Walker JR, Campagna-Slater V, Finerty PJ, Paramanathan R, Bernstein G, MacKenzie F, Tempel W, Ouyang H, Lee WH, Eisenmesser EZ, Dhe-Paganon S", "reference": { "type": "PubMed", "id": "20676357", "url": "https://pubmed.ncbi.nlm.nih.gov/20676357" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UX04-1", "protein_name": "Spliceosome-associated protein CWC27 homolog", "gene_name": "CWC27", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q08752-1", "protein_name": "Peptidyl-prolyl cis-trans isomerase D", "gene_name": "PPID", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13427-1", "protein_name": "Peptidyl-prolyl cis-trans isomerase G", "gene_name": "PPIG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30414-1", "protein_name": "NK-tumor recognition protein", "gene_name": "NKTR", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96BP3-1", "protein_name": "Peptidylprolyl isomerase domain and WD repeat-containing protein 1", "gene_name": "PPWD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13356-1", "protein_name": "RING-type E3 ubiquitin-protein ligase PPIL2", "gene_name": "PPIL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62937-1", "protein_name": "Peptidyl-prolyl cis-trans isomerase A", "gene_name": "PPIA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P23284-1", "protein_name": "Peptidyl-prolyl cis-trans isomerase B", "gene_name": "PPIB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P45877-1", "protein_name": "Peptidyl-prolyl cis-trans isomerase C", "gene_name": "PPIC", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49792-1", "protein_name": "E3 SUMO-protein ligase RanBP2", "gene_name": "RANBP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXY8-1", "protein_name": "Probable inactive peptidyl-prolyl cis-trans isomerase-like 6", "gene_name": "PPIL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43447-1", "protein_name": "Peptidyl-prolyl cis-trans isomerase H", "gene_name": "PPIH", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30405-1", "protein_name": "Peptidyl-prolyl cis-trans isomerase F, mitochondrial", "gene_name": "PPIF", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UX04", "url": "https://www.uniprot.org/uniprotkb/Q6UX04" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 389, "end_pos": 389, "sequence_org": "Y", "sequence_mut": "H", "comment": "No peptidyl-prolyl cis-trans isomerase activity; enables interaction with cyclosporin A.", "evidence": [ { "database": "UniProtKB", "id": "Q13356", "url": "https://www.uniprot.org/uniprotkb/Q13356" }, { "database": "PubMed", "id": "20676357", "url": "https://pubmed.ncbi.nlm.nih.gov/20676357" } ], "uniprot_canonical_ac": "Q13356-1" }, { "start_pos": 389, "end_pos": 389, "sequence_org": "Y", "sequence_mut": "W", "comment": "Gain of a peptidyl-prolyl cis-trans isomerase activity; enables interaction with cyclosporin A.", "evidence": [ { "database": "UniProtKB", "id": "Q13356", "url": "https://www.uniprot.org/uniprotkb/Q13356" }, { "database": "PubMed", "id": "20676357", "url": "https://pubmed.ncbi.nlm.nih.gov/20676357" } ], "uniprot_canonical_ac": "Q13356-1" }, { "start_pos": 121, "end_pos": 121, "sequence_org": "W", "sequence_mut": "E", "comment": "Loss of peptidyl-prolyl cis-trans isomerase activity.", "evidence": [ { "database": "UniProtKB", "id": "P62937", "url": "https://www.uniprot.org/uniprotkb/P62937" }, { "database": "PubMed", "id": "20676357", "url": "https://pubmed.ncbi.nlm.nih.gov/20676357" } ], "uniprot_canonical_ac": "P62937-1" }, { "start_pos": 121, "end_pos": 121, "sequence_org": "W", "sequence_mut": "H", "comment": "No effect on peptidyl-prolyl cis-trans isomerase activity.", "evidence": [ { "database": "UniProtKB", "id": "P62937", "url": "https://www.uniprot.org/uniprotkb/P62937" }, { "database": "PubMed", "id": "20676357", "url": "https://pubmed.ncbi.nlm.nih.gov/20676357" } ], "uniprot_canonical_ac": "P62937-1" } ], "record_id": "pubmed.20676357", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structure and evolution of the spliceosomal peptidyl-prolyl cis-trans isomerase Cwc27.", "journal": "Acta Crystallogr. D", "date": "2014", "authors": "Ulrich A, Wahl MC", "reference": { "type": "PubMed", "id": "25478830", "url": "https://pubmed.ncbi.nlm.nih.gov/25478830" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UX04-1", "protein_name": "Spliceosome-associated protein CWC27 homolog", "gene_name": "CWC27", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UX04", "url": "https://www.uniprot.org/uniprotkb/Q6UX04" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25478830", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Genome-Wide Association Study of Bladder Cancer in a Chinese Cohort Reveals a New Susceptibility Locus at 5q12.3.", "journal": "Cancer research", "date": "2016", "authors": "Wang M, Li Z, Chu H, Lv Q, Ye D, Ding Q, Xu C, Guo J, Du M, Chen J, Song Z, Yin C, Qin C, Gu C, Zhu Y, Xia G, Liu F, Zhang Z, Yuan L, Fu G, Hu Z, Tong N, Shen J, Liu K, Sun J, Sun Y, Li J, Li X, Shen H, Xu J, Shi Y, Zhang Z", "reference": { "type": "PubMed", "id": "27206850", "url": "https://pubmed.ncbi.nlm.nih.gov/27206850" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UX04-1", "protein_name": "Spliceosome-associated protein CWC27 homolog", "gene_name": "CWC27", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UX04", "url": "https://www.uniprot.org/uniprotkb/Q6UX04" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27206850", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.", "journal": "American journal of human genetics", "date": "2017", "authors": "Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschke P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF", "reference": { "type": "PubMed", "id": "28285769", "url": "https://pubmed.ncbi.nlm.nih.gov/28285769" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UX04-1", "protein_name": "Spliceosome-associated protein CWC27 homolog", "gene_name": "CWC27", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3TKY6-1", "protein_name": "Spliceosome-associated protein CWC27 homolog", "gene_name": "Cwc27", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UX04", "url": "https://www.uniprot.org/uniprotkb/Q6UX04" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28285769", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.", "journal": "American journal of medical genetics. Part A", "date": "2023-05", "authors": "Yassin Shaden H, Henderson Riley, Lenberg Jerica, Murillo Viridiana, Murdock David R, Friedman Jennifer, Jones Marilyn C, Wigby Kristen, Borooah Shyamanga", "reference": { "type": "PubMed", "id": "36718996", "url": "https://pubmed.ncbi.nlm.nih.gov/36718996" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UX04-1", "protein_name": "Spliceosome-associated protein CWC27 homolog", "gene_name": "CWC27", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UX04", "url": "https://www.uniprot.org/uniprotkb/Q6UX04" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36718996", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "ARCN1 mutations cause a recognizable craniofacial syndrome due to copi-mediated transport defects.", "journal": "Am. J. Hum. Genet.", "date": "2016", "authors": "Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K", "reference": { "type": "PubMed", "id": "27476655", "url": "https://pubmed.ncbi.nlm.nih.gov/27476655" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P48444-1", "protein_name": "Coatomer subunit delta", "gene_name": "ARCN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48444", "url": "https://www.uniprot.org/uniprotkb/P48444" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27476655", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay.", "journal": "Cold Spring Harbor molecular case studies", "date": "2020", "authors": "Tidwell T, Deshotel M, Palumbos J, Miller C, Bayrak-Toydemir P, Carey JC", "reference": { "type": "PubMed", "id": "33154040", "url": "https://pubmed.ncbi.nlm.nih.gov/33154040" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P48444-1", "protein_name": "Coatomer subunit delta", "gene_name": "ARCN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48444", "url": "https://www.uniprot.org/uniprotkb/P48444" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33154040", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The human archain gene, ARCN1, has highly conserved homologs in rice and Drosophila.", "journal": "Genomics", "date": "1995", "authors": "Radice P, Pensotti V, Jones C, Perry H, Pierotti MA, Tunnacliffe A", "reference": { "type": "PubMed", "id": "7782067", "url": "https://pubmed.ncbi.nlm.nih.gov/7782067" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P48444-1", "protein_name": "Coatomer subunit delta", "gene_name": "ARCN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48444", "url": "https://www.uniprot.org/uniprotkb/P48444" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7782067", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Crystallization and X-ray diffraction analysis of human CLEC-2.", "journal": "Acta crystallographica. Section F, Structural biology and crystallization communications", "date": "2005", "authors": "Watson AA, O'Callaghan CA", "reference": { "type": "PubMed", "id": "16511244", "url": "https://pubmed.ncbi.nlm.nih.gov/16511244" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16511244", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "DC-SIGN and CLEC-2 mediate human immunodeficiency virus type 1 capture by platelets.", "journal": "Journal of virology", "date": "2006", "authors": "Chaipan C, Soilleux EJ, Simpson P, Hofmann H, Gramberg T, Marzi A, Geier M, Stewart EA, Eisemann J, Steinkasserer A, Suzuki-Inoue K, Fuller GL, Pearce AC, Watson SP, Hoxie JA, Baribaud F, Pohlmann S", "reference": { "type": "PubMed", "id": "16940507", "url": "https://pubmed.ncbi.nlm.nih.gov/16940507" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16940507", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The crystal structure and mutational binding analysis of the extracellular domain of the platelet-activating receptor CLEC-2.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Watson AA, Brown J, Harlos K, Eble JA, Walter TS, O'Callaghan CA", "reference": { "type": "PubMed", "id": "17132623", "url": "https://pubmed.ncbi.nlm.nih.gov/17132623" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 150, "end_pos": 150, "sequence_org": "K", "sequence_mut": "A", "comment": "Substantial reduction in rhodocytin binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" }, { "database": "PubMed", "id": "17132623", "url": "https://pubmed.ncbi.nlm.nih.gov/17132623" } ], "uniprot_canonical_ac": "Q9P126-1" }, { "start_pos": 171, "end_pos": 171, "sequence_org": "K", "sequence_mut": "A", "comment": "Significant reduction in rhodocytin binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" }, { "database": "PubMed", "id": "17132623", "url": "https://pubmed.ncbi.nlm.nih.gov/17132623" } ], "uniprot_canonical_ac": "Q9P126-1" }, { "start_pos": 184, "end_pos": 184, "sequence_org": "E", "sequence_mut": "A", "comment": "Significant reduction in rhodocytin binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" }, { "database": "PubMed", "id": "17132623", "url": "https://pubmed.ncbi.nlm.nih.gov/17132623" } ], "uniprot_canonical_ac": "Q9P126-1" }, { "start_pos": 187, "end_pos": 187, "sequence_org": "E", "sequence_mut": "A", "comment": "Significant reduction in rhodocytin binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" }, { "database": "PubMed", "id": "17132623", "url": "https://pubmed.ncbi.nlm.nih.gov/17132623" } ], "uniprot_canonical_ac": "Q9P126-1" }, { "start_pos": 188, "end_pos": 188, "sequence_org": "D", "sequence_mut": "A", "comment": "Significant reduction in rhodocytin binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" }, { "database": "PubMed", "id": "17132623", "url": "https://pubmed.ncbi.nlm.nih.gov/17132623" } ], "uniprot_canonical_ac": "Q9P126-1" }, { "start_pos": 190, "end_pos": 190, "sequence_org": "K", "sequence_mut": "A", "comment": "Significant reduction in rhodocytin binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" }, { "database": "PubMed", "id": "17132623", "url": "https://pubmed.ncbi.nlm.nih.gov/17132623" } ], "uniprot_canonical_ac": "Q9P126-1" }, { "start_pos": 192, "end_pos": 192, "sequence_org": "N", "sequence_mut": "A", "comment": "Significant reduction in rhodocytin binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" }, { "database": "PubMed", "id": "17132623", "url": "https://pubmed.ncbi.nlm.nih.gov/17132623" } ], "uniprot_canonical_ac": "Q9P126-1" } ], "record_id": "pubmed.17132623", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "RACK1 associates with CLEC-2 and promotes its ubiquitin-proteasome degradation.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2009", "authors": "Ruan Yuanyuan, Guo Liang, Qiao Ying, Hong Yi, Zhou Lei, Sun Linlin, Wang Lijing, Zhu Haiyan, Wang Lan, Yun Xiaojing, Xie Jianhui, Gu Jianxin", "reference": { "type": "PubMed", "id": "19785988", "url": "https://pubmed.ncbi.nlm.nih.gov/19785988" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63244-1", "protein_name": "Small ribosomal subunit protein RACK1", "gene_name": "RACK1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19785988", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The platelet receptor CLEC-2 is active as a dimer.", "journal": "Biochemistry", "date": "2009", "authors": "Watson Aleksandra A, Christou Charita M, James John R, Fenton-May Angharad E, Moncayo Gerald E, Mistry Anita R, Davis Simon J, Gilbert Robert J C, Chakera Aron, O'Callaghan Chris A", "reference": { "type": "PubMed", "id": "19824697", "url": "https://pubmed.ncbi.nlm.nih.gov/19824697" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19824697", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Platelet activation receptor CLEC-2 regulates blood/lymphatic vessel separation by inhibiting proliferation, migration, and tube formation of lymphatic endothelial cells.", "journal": "The Journal of biological chemistry", "date": "2012-06-22", "authors": "Osada Makoto, Inoue Osamu, Ding Guo, Shirai Toshiaki, Ichise Hirotake, Hirayama Kazuyoshi, Takano Katsuhiro, Yatomi Yutaka, Hirashima Masanori, Fujii Hideki, Suzuki-Inoue Katsue, Ozaki Yukio", "reference": { "type": "PubMed", "id": "22556408", "url": "https://pubmed.ncbi.nlm.nih.gov/22556408" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22556408", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Elucidation of differences in N-glycosylation between different molecular weight forms of recombinant CLEC-2 by LC MALDI tandem MS.", "journal": "Carbohydrate research", "date": "2015", "authors": "Zhou L, Qian Y, Zhang X, Ruan Y, Ren S, Gu J", "reference": { "type": "PubMed", "id": "25498018", "url": "https://pubmed.ncbi.nlm.nih.gov/25498018" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 134, "start_aa": "Asn", "end_pos": 134, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn134", "evidence": [ { "id": "Q9P126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9P126#ptm_processing" }, { "id": "25498018", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25498018" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" } ], "mining_tool": "RLIMS-G_1.0", "mining_tool_list": [ { "label": "RLIMS-G_1.0" } ], "filter_code": "001000000000000000000.00010000000000.00.01001", "uniprot_canonical_ac": "Q9P126-1" } ], "record_id": "pubmed.25498018", "abstract": "", "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_n_linked_sites", "count": 1 }, { "field": "fuzzy_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", "mining_tool", "filter_code", "uniprot_canonical_ac" ] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_n_linked_sites", "count": 1 }, { "field": "fuzzy_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", "mining_tool", "filter_code", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_n_linked_sites", "count": 1 }, { "field": "fuzzy_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", "mining_tool", "filter_code", "uniprot_canonical_ac" ] } ] }, { "title": "Platelet adhesion to podoplanin under flow is mediated by the receptor CLEC-2 and stabilised by Src/Syk-dependent platelet signalling.", "journal": "Thromb. Haemost.", "date": "2015", "authors": "Navarro-Nunez L, Pollitt AY, Lowe K, Latif A, Nash GB, Watson SP", "reference": { "type": "PubMed", "id": "25694214", "url": "https://pubmed.ncbi.nlm.nih.gov/25694214" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9D676-1", "protein_name": "C-type lectin domain family 2 member G", "gene_name": "Clec2g", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25694214", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Platelets and cancer-associated thrombosis: focusing on the platelet activation receptor CLEC-2 and podoplanin.", "journal": "Blood", "date": "2019", "authors": "Suzuki-Inoue K", "reference": { "type": "PubMed", "id": "31778548", "url": "https://pubmed.ncbi.nlm.nih.gov/31778548" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31778548", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Control of Platelet CLEC-2-Mediated Activation by Receptor Clustering and Tyrosine Kinase Signaling.", "journal": "Biophysical journal", "date": "2020", "authors": "Martyanov AA, Balabin FA, Dunster JL, Panteleev MA, Gibbins JM, Sveshnikova AN", "reference": { "type": "PubMed", "id": "32396849", "url": "https://pubmed.ncbi.nlm.nih.gov/32396849" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32396849", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "[Expression of Clec2 in Patients with Myelodysplastic Syndrome and Its Correlation with TPO].", "journal": "Zhongguo shi yan xue ye xue za zhi", "date": "2020", "authors": "Jin JC, Hao YW", "reference": { "type": "PubMed", "id": "33067967", "url": "https://pubmed.ncbi.nlm.nih.gov/33067967" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33067967", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Endothelial CLEC-1b plays a protective role against cancer hematogenous metastasis.", "journal": "Biochemical and biophysical research communications", "date": "2024-05-14", "authors": "Yamazaki Ekura, Ikeda Koji, Urata Ryota, Ueno Daisuke, Katayama Akiko, Ito Fumiaki, Ikegaya Hiroshi, Matoba Satoaki", "reference": { "type": "PubMed", "id": "38531221", "url": "https://pubmed.ncbi.nlm.nih.gov/38531221" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9JL99-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "Clec1b", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P126", "url": "https://www.uniprot.org/uniprotkb/Q9P126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38531221", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer.", "journal": "Human mutation", "date": "2004", "authors": "Baldinu P, Cossu A, Manca A, Satta MP, Sini MC, Rozzo C, Dessole S, Cherchi P, Gianfrancesco F, Pintus A, Carboni A, Deiana A, Tanda F, Palmieri G", "reference": { "type": "PubMed", "id": "15024726", "url": "https://pubmed.ncbi.nlm.nih.gov/15024726" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6XLA1-1", "protein_name": "Protein CASC2, isoform 3", "gene_name": "CASC2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6XLA1", "url": "https://www.uniprot.org/uniprotkb/Q6XLA1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15024726", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "CASC2a gene is down-regulated in endometrial cancer.", "journal": "Anticancer research", "date": "2007", "authors": "Baldinu Paola, Cossu Antonio, Manca Antonella, Satta Maria P, Sini Maria C, Palomba Grazia, Dessole Salvatore, Cherchi Pierluigi, Mara Laura, Tanda Francesco, Palmieri Giuseppe", "reference": { "type": "PubMed", "id": "17352238", "url": "https://pubmed.ncbi.nlm.nih.gov/17352238" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6XLA1-1", "protein_name": "Protein CASC2, isoform 3", "gene_name": "CASC2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6XLA1", "url": "https://www.uniprot.org/uniprotkb/Q6XLA1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17352238", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Jagunal is required for reorganizing the endoplasmic reticulum during Drosophila oogenesis.", "journal": "J. Cell Biol.", "date": "2007", "authors": "Lee S, Cooley L", "reference": { "type": "PubMed", "id": "17389229", "url": "https://pubmed.ncbi.nlm.nih.gov/17389229" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8N5M9-1", "protein_name": "Protein jagunal homolog 1", "gene_name": "JAGN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5XJX0-1", "protein_name": "Protein jagunal homolog 1-A", "gene_name": "jagn1a", "tax_name": "Zebrafish" }, { "uniprot_canonical_ac": "Q7K1V5-1", "protein_name": "Protein jagunal", "gene_name": "jagn", "tax_name": "Fruit fly" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5M9", "url": "https://www.uniprot.org/uniprotkb/Q8N5M9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 16, "end_pos": 16, "sequence_org": "D", "sequence_mut": "N", "comment": "Semi-lethal.", "evidence": [ { "database": "UniProtKB", "id": "Q7K1V5", "url": "https://www.uniprot.org/uniprotkb/Q7K1V5" }, { "database": "PubMed", "id": "17389229", "url": "https://pubmed.ncbi.nlm.nih.gov/17389229" } ], "uniprot_canonical_ac": "Q7K1V5-1" } ], "record_id": "pubmed.17389229", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense.", "journal": "Nature genetics", "date": "2014", "authors": "Wirnsberger G, Zwolanek F, Stadlmann J, Tortola L, Liu SW, Perlot T, Jarvinen P, Durnberger G, Kozieradzki I, Sarao R, De Martino A, Boztug K, Mechtler K, Kuchler K, Klein C, Elling U, Penninger JM", "reference": { "type": "PubMed", "id": "25129145", "url": "https://pubmed.ncbi.nlm.nih.gov/25129145" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8N5M9-1", "protein_name": "Protein jagunal homolog 1", "gene_name": "JAGN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5XKN4-1", "protein_name": "Protein jagunal homolog 1", "gene_name": "Jagn1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5M9", "url": "https://www.uniprot.org/uniprotkb/Q8N5M9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25129145", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "JAGN1, tetraspanins, and Erv proteins: is common topology indicative of common function in cargo sorting?", "journal": "American journal of physiology. Cell physiology", "date": "2020", "authors": "VanWinkle PE, Parish F, Edwards YJK, Sztul E", "reference": { "type": "PubMed", "id": "32783652", "url": "https://pubmed.ncbi.nlm.nih.gov/32783652" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8N5M9-1", "protein_name": "Protein jagunal homolog 1", "gene_name": "JAGN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5M9", "url": "https://www.uniprot.org/uniprotkb/Q8N5M9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32783652", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans.", "journal": "The Journal of experimental medicine", "date": "2021", "authors": "Hagelkruys A, Wirnsberger G, Stadlmann J, Wohner M, Horrer M, Vilagos B, Jonsson G, Kogler M, Tortola L, Novatchkova M, Bonelt P, Hoffmann D, Koglgruber R, Steffen U, Schett G, Busslinger M, Bergthaler A, Klein C, Penninger JM", "reference": { "type": "PubMed", "id": "32930709", "url": "https://pubmed.ncbi.nlm.nih.gov/32930709" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8N5M9-1", "protein_name": "Protein jagunal homolog 1", "gene_name": "JAGN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5XKN4-1", "protein_name": "Protein jagunal homolog 1", "gene_name": "Jagn1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5M9", "url": "https://www.uniprot.org/uniprotkb/Q8N5M9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32930709", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.", "journal": "British journal of haematology", "date": "2021", "authors": "Khandagale A, Holmlund T, Entesarian M, Nilsson D, Kalwak K, Klaudel-Dreszler M, Carlsson G, Henter JI, Nordenskjold M, Fadeel B", "reference": { "type": "PubMed", "id": "33206996", "url": "https://pubmed.ncbi.nlm.nih.gov/33206996" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8N5M9-1", "protein_name": "Protein jagunal homolog 1", "gene_name": "JAGN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5M9", "url": "https://www.uniprot.org/uniprotkb/Q8N5M9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33206996", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "JAGN1 mutation with distinct clinical features; two case reports and literature review.", "journal": "BMC pediatrics", "date": "2023-04-29", "authors": "Hojabri Mahsa, Farsi Yeganeh, Jamee Mahnaz, Abolhassani Hassan, Khani Hedieh Haji Khodaverdi, Karimi Abdollah, Mesdaghi Mehrnaz, Chavoshzadeh Zahra, Sharafian Samin", "reference": { "type": "PubMed", "id": "37120535", "url": "https://pubmed.ncbi.nlm.nih.gov/37120535" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8N5M9-1", "protein_name": "Protein jagunal homolog 1", "gene_name": "JAGN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5M9", "url": "https://www.uniprot.org/uniprotkb/Q8N5M9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37120535", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "KLHL38 involvement in non-small cell lung cancer progression via activation of the Akt signaling pathway.", "journal": "Cell death & disease", "date": "2021", "authors": "Xu Y, Wang C, Jiang X, Zhang Y, Su H, Jiang J, Ren H, Qiu X", "reference": { "type": "PubMed", "id": "34050138", "url": "https://pubmed.ncbi.nlm.nih.gov/34050138" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q2WGJ6-1", "protein_name": "Kelch-like protein 38", "gene_name": "KLHL38", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q2WGJ6", "url": "https://www.uniprot.org/uniprotkb/Q2WGJ6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34050138", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family.", "journal": "J. Invest. Dermatol.", "date": "2005", "authors": "Kariya N, Shimomura Y, Ito M", "reference": { "type": "PubMed", "id": "15955084", "url": "https://pubmed.ncbi.nlm.nih.gov/15955084" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BYR2-1", "protein_name": "Keratin-associated protein 4-5", "gene_name": "KRTAP4-5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYR3-1", "protein_name": "Keratin-associated protein 4-4", "gene_name": "KRTAP4-4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYQ9-1", "protein_name": "Keratin-associated protein 4-8", "gene_name": "KRTAP4-8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYQ5-1", "protein_name": "Keratin-associated protein 4-6", "gene_name": "KRTAP4-6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYQ7-1", "protein_name": "Keratin-associated protein 4-1", "gene_name": "KRTAP4-1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYR0-1", "protein_name": "Keratin-associated protein 4-7", "gene_name": "KRTAP4-7", "tax_name": "Human" }, { "uniprot_canonical_ac": "G5E9R7-1", "protein_name": "Keratin-associated protein 4-16", "gene_name": "KRTAP4-16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYQ6-1", "protein_name": "Keratin-associated protein 4-11", "gene_name": "KRTAP4-11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYQ8-1", "protein_name": "Keratin-associated protein 4-9", "gene_name": "KRTAP4-9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYR4-1", "protein_name": "Keratin-associated protein 4-3", "gene_name": "KRTAP4-3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQ66-1", "protein_name": "Keratin-associated protein 4-12", "gene_name": "KRTAP4-12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYR2", "url": "https://www.uniprot.org/uniprotkb/Q9BYR2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15955084", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 11 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.", "journal": "Nat. Genet.", "date": "2000", "authors": "Moreira E S, Wiltshire T J, Faulkner G, Nilforoushan A, Vainzof M, Suzuki O T, Valle G, Reeves R, Zatz M, Passos-Bueno M R, Jenne D E", "reference": { "type": "PubMed", "id": "10655062", "url": "https://pubmed.ncbi.nlm.nih.gov/10655062" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10655062", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Faulkner G, Pallavicini A, Comelli A, Salamon M, Bortoletto G, Ievolella C, Trevisan S, Kojic' S, Dalla Vecchia F, Laveder P, Valle G, Lanfranchi G", "reference": { "type": "PubMed", "id": "10984498", "url": "https://pubmed.ncbi.nlm.nih.gov/10984498" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35609-1", "protein_name": "Alpha-actinin-2", "gene_name": "ACTN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14315-1", "protein_name": "Filamin-C", "gene_name": "FLNC", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP98-1", "protein_name": "Myozenin-1", "gene_name": "MYOZ1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9JK37-1", "protein_name": "Myozenin-1", "gene_name": "Myoz1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10984498", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Frey N, Olson EN", "reference": { "type": "PubMed", "id": "11842093", "url": "https://pubmed.ncbi.nlm.nih.gov/11842093" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35609-1", "protein_name": "Alpha-actinin-2", "gene_name": "ACTN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14315-1", "protein_name": "Filamin-C", "gene_name": "FLNC", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NPC6-1", "protein_name": "Myozenin-2", "gene_name": "MYOZ2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP98-1", "protein_name": "Myozenin-1", "gene_name": "MYOZ1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8R4E4-1", "protein_name": "Myozenin-3", "gene_name": "Myoz3", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q08209-1", "protein_name": "Protein phosphatase 3 catalytic subunit alpha", "gene_name": "PPP3CA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDC0-1", "protein_name": "Myozenin-3", "gene_name": "MYOZ3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75112-1", "protein_name": "LIM domain-binding protein 3", "gene_name": "LDB3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11842093", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.", "journal": "Cell", "date": "2002", "authors": "Knoll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork NJ, Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller W, Schaper J, Schultheiss HP, Chien KR", "reference": { "type": "PubMed", "id": "12507422", "url": "https://pubmed.ncbi.nlm.nih.gov/12507422" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50461-1", "protein_name": "Cysteine and glycine-rich protein 3", "gene_name": "CSRP3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12507422", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.", "journal": "Journal of the American College of Cardiology", "date": "2004", "authors": "Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knoll R, Hoshijima M, Chien KR, Kimura A", "reference": { "type": "PubMed", "id": "15582318", "url": "https://pubmed.ncbi.nlm.nih.gov/15582318" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50461-1", "protein_name": "Cysteine and glycine-rich protein 3", "gene_name": "CSRP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14896-1", "protein_name": "Myosin-binding protein C, cardiac-type", "gene_name": "MYBPC3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15582318", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.", "journal": "Molecular genetics and metabolism", "date": "2006", "authors": "Bos JM, Poley RN, Ny M, Tester DJ, Xu X, Vatta M, Towbin JA, Gersh BJ, Ommen SR, Ackerman MJ", "reference": { "type": "PubMed", "id": "16352453", "url": "https://pubmed.ncbi.nlm.nih.gov/16352453" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16352453", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk.", "journal": "Nature", "date": "2006", "authors": "Zou Peijian, Pinotsis Nikos, Lange Stephan, Song Young-Hwa, Popov Alexander, Mavridis Irene, Mayans Olga M, Gautel Mathias, Wilmanns Matthias", "reference": { "type": "PubMed", "id": "16407954", "url": "https://pubmed.ncbi.nlm.nih.gov/16407954" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZ42-1", "protein_name": "Titin", "gene_name": "TTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16407954", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism.", "journal": "Mol. Genet. Metab.", "date": "2006", "authors": "Perrot Andreas, Posch Maximilian G, Osterziel Karl Josef", "reference": { "type": "PubMed", "id": "16490376", "url": "https://pubmed.ncbi.nlm.nih.gov/16490376" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16490376", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population.", "journal": "Mol. Genet. Metab.", "date": "2006", "authors": "Marziliano N, Pilotto A, Grasso M, Pasotti M, Arbustini E", "reference": { "type": "PubMed", "id": "16650785", "url": "https://pubmed.ncbi.nlm.nih.gov/16650785" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16650785", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus.", "journal": "J. Struct. Biol.", "date": "2006", "authors": "Pinotsis Nikos, Petoukhov Maxim, Lange Stephan, Svergun Dmitri, Zou Peijian, Gautel Mathias, Wilmanns Matthias", "reference": { "type": "PubMed", "id": "16713295", "url": "https://pubmed.ncbi.nlm.nih.gov/16713295" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16713295", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation.", "journal": "FEBS J.", "date": "2014", "authors": "Vafiadaki E, Arvanitis DA, Papalouka V, Terzis G, Roumeliotis TI, Spengos K, Garbis SD, Manta P, Kranias EG, Sanoudou D", "reference": { "type": "PubMed", "id": "24860983", "url": "https://pubmed.ncbi.nlm.nih.gov/24860983" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50461-1", "protein_name": "Cysteine and glycine-rich protein 3", "gene_name": "CSRP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15173-1", "protein_name": "Myogenin", "gene_name": "MYOG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15172-1", "protein_name": "Myoblast determination protein 1", "gene_name": "MYOD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24860983", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The GSK-3beta-FBXL21 Axis Contributes to Circadian TCAP Degradation and Skeletal Muscle Function.", "journal": "Cell reports", "date": "2020", "authors": "Wirianto M, Yang J, Kim E, Gao S, Paudel KR, Choi JM, Choe J, Gloston GF, Ademoji P, Parakramaweera R, Jin J, Esser KA, Jung SY, Geng YJ, Lee HK, Chen Z, Yoo SH", "reference": { "type": "PubMed", "id": "32937135", "url": "https://pubmed.ncbi.nlm.nih.gov/32937135" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8BFZ4-1", "protein_name": "F-box/LRR-repeat protein 21", "gene_name": "Fbxl21", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9UKT6-1", "protein_name": "Putative F-box/LRR-repeat protein 21", "gene_name": "FBXL21P", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 157, "end_pos": 157, "kinase_uniprot_canonical_ac": "P49841-1", "kinase_gene_name": "GSK3B", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15273", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15273" }, { "database": "PubMed", "id": "32937135", "url": "https://pubmed.ncbi.nlm.nih.gov/32937135" } ], "site_lbl": "Ser157", "uniprot_canonical_ac": "O15273-1" }, { "start_pos": 33, "end_pos": 33, "kinase_uniprot_canonical_ac": "P49841-1", "kinase_gene_name": "GSK3B", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9UKT6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UKT6" }, { "database": "PubMed", "id": "32937135", "url": "https://pubmed.ncbi.nlm.nih.gov/32937135" } ], "site_lbl": "Thr33", "uniprot_canonical_ac": "Q9UKT6-1" } ], "record_id": "pubmed.32937135", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.", "journal": "Human molecular genetics", "date": "2023-07-20", "authors": "Lv Xiaoqing, Lin Feng, Wu Wenjing, Wang Hui, Luo Yuebei, Wang Zhiqiang, Yan Chuanzhu, Lv He, Luo Sushan, Lin Pengfei", "reference": { "type": "PubMed", "id": "37216648", "url": "https://pubmed.ncbi.nlm.nih.gov/37216648" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37216648", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "TCAP gene is not a common cause of cardiomyopathy in Iranian patients.", "journal": "European journal of medical research", "date": "2023-09-26", "authors": "Alaei Zahra, Zamani Nasrin, Rabbani Bahareh, Mahdieh Nejat", "reference": { "type": "PubMed", "id": "37752589", "url": "https://pubmed.ncbi.nlm.nih.gov/37752589" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37752589", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Telethonin, a novel sarcomeric protein of heart and skeletal muscle.", "journal": "FEBS Lett.", "date": "1997", "authors": "Valle G, Faulkner G, De Antoni A, Pacchioni B, Pallavicini A, Pandolfo D, Tiso N, Toppo S, Trevisan S, Lanfranchi G", "reference": { "type": "PubMed", "id": "9350988", "url": "https://pubmed.ncbi.nlm.nih.gov/9350988" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9350988", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin.", "journal": "FEBS Lett.", "date": "1998", "authors": "Mues A, van der Ven P F, Young P, F\u00fcrst D O, Gautel M", "reference": { "type": "PubMed", "id": "9645487", "url": "https://pubmed.ncbi.nlm.nih.gov/9645487" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZ42-1", "protein_name": "Titin", "gene_name": "TTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9645487", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structural basis for activation of the titin kinase domain during myofibrillogenesis.", "journal": "Nature", "date": "1998", "authors": "Mayans O, van der Ven PF, Wilm M, Mues A, Young P, Furst DO, Wilmanns M, Gautel M", "reference": { "type": "PubMed", "id": "9804419", "url": "https://pubmed.ncbi.nlm.nih.gov/9804419" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15273-1", "protein_name": "Telethonin", "gene_name": "TCAP", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DP23-1", "protein_name": "Calmodulin-1", "gene_name": "CALM1; CALM2; CALM3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DP24-1", "protein_name": "Calmodulin-2", "gene_name": "CALM2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DP25-1", "protein_name": "Calmodulin-3", "gene_name": "CALM3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O70548-1", "protein_name": "Telethonin", "gene_name": "Tcap", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q8WZ42-1", "protein_name": "Titin", "gene_name": "TTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprotkb/O15273" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 157, "end_pos": 157, "kinase_uniprot_canonical_ac": "Q8WZ42-1", "kinase_gene_name": "TTN", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15273", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15273" }, { "database": "PubMed", "id": "9804419", "url": "https://pubmed.ncbi.nlm.nih.gov/9804419" } ], "site_lbl": "Ser157", "uniprot_canonical_ac": "O15273-1" }, { "start_pos": 157, "end_pos": 157, "kinase_uniprot_canonical_ac": "A2ASS6-1", "kinase_gene_name": "Ttn", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O70548", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70548" }, { "database": "PubMed", "id": "9804419", "url": "https://pubmed.ncbi.nlm.nih.gov/9804419" } ], "site_lbl": "Ser157", "uniprot_canonical_ac": "O70548-1" }, { "start_pos": 32341, "end_pos": 32341, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q8WZ42", "url": "https://www.uniprot.org/uniprotkb/Q8WZ42" }, { "database": "PubMed", "id": "9804419", "url": "https://pubmed.ncbi.nlm.nih.gov/9804419" }, { "database": "iPTMnet", "id": "Q8WZ42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WZ42" } ], "site_lbl": "Tyr32341", "uniprot_canonical_ac": "Q8WZ42-1" } ], "mutagenesis": [ { "start_pos": 32207, "end_pos": 32207, "sequence_org": "K", "sequence_mut": "A", "comment": "Disrupts catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8WZ42", "url": "https://www.uniprot.org/uniprotkb/Q8WZ42" }, { "database": "PubMed", "id": "9804419", "url": "https://pubmed.ncbi.nlm.nih.gov/9804419" } ], "uniprot_canonical_ac": "Q8WZ42-1" }, { "start_pos": 32341, "end_pos": 32341, "sequence_org": "Y", "sequence_mut": "E", "comment": "No phosphorylation on tyrosine.", "evidence": [ { "database": "UniProtKB", "id": "Q8WZ42", "url": "https://www.uniprot.org/uniprotkb/Q8WZ42" }, { "database": "PubMed", "id": "9804419", "url": "https://pubmed.ncbi.nlm.nih.gov/9804419" } ], "uniprot_canonical_ac": "Q8WZ42-1" } ], "record_id": "pubmed.9804419", "abstract": "", "glycosylation": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Sumoylation modulates the assembly and activity of the pre-mRNA 3' processing complex.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Vethantham V, Rao N, Manley JL", "reference": { "type": "PubMed", "id": "17923699", "url": "https://pubmed.ncbi.nlm.nih.gov/17923699" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKF6-1", "protein_name": "Cleavage and polyadenylation specificity factor subunit 3", "gene_name": "CPSF3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 462, "end_pos": 462, "sequence_org": "K", "sequence_mut": "R", "comment": "Reduced sumoylation; when associated with R-465 and R-545.", "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" }, { "database": "PubMed", "id": "17923699", "url": "https://pubmed.ncbi.nlm.nih.gov/17923699" } ], "uniprot_canonical_ac": "Q9UKF6-1" }, { "start_pos": 465, "end_pos": 465, "sequence_org": "K", "sequence_mut": "R", "comment": "Reduced sumoylation; when associated with R-462 and R-545.", "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" }, { "database": "PubMed", "id": "17923699", "url": "https://pubmed.ncbi.nlm.nih.gov/17923699" } ], "uniprot_canonical_ac": "Q9UKF6-1" }, { "start_pos": 545, "end_pos": 545, "sequence_org": "K", "sequence_mut": "R", "comment": "Reduced sumoylation; when associated with R-462 and R-465.", "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" }, { "database": "PubMed", "id": "17923699", "url": "https://pubmed.ncbi.nlm.nih.gov/17923699" } ], "uniprot_canonical_ac": "Q9UKF6-1" } ], "record_id": "pubmed.17923699", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Conserved motifs in both CPSF73 and CPSF100 are required to assemble the active endonuclease for histone mRNA 3'-end maturation.", "journal": "EMBO reports", "date": "2008", "authors": "Kolev NG, Yario TA, Benson E, Steitz JA", "reference": { "type": "PubMed", "id": "18688255", "url": "https://pubmed.ncbi.nlm.nih.gov/18688255" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKF6-1", "protein_name": "Cleavage and polyadenylation specificity factor subunit 3", "gene_name": "CPSF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92797-1", "protein_name": "Symplekin", "gene_name": "SYMPK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2I0-1", "protein_name": "Cleavage and polyadenylation specificity factor subunit 2", "gene_name": "CPSF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P33240-1", "protein_name": "Cleavage stimulation factor subunit 2", "gene_name": "CSTF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 334, "end_pos": 334, "sequence_org": "S", "sequence_mut": "A", "comment": "Does not inhibit histone 3'-end processing.", "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" }, { "database": "PubMed", "id": "18688255", "url": "https://pubmed.ncbi.nlm.nih.gov/18688255" } ], "uniprot_canonical_ac": "Q9UKF6-1" }, { "start_pos": 396, "end_pos": 396, "sequence_org": "H", "sequence_mut": "A", "comment": "Inhibits histone 3'-end processing.", "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" }, { "database": "PubMed", "id": "18688255", "url": "https://pubmed.ncbi.nlm.nih.gov/18688255" } ], "uniprot_canonical_ac": "Q9UKF6-1" }, { "start_pos": 73, "end_pos": 73, "sequence_org": "H", "sequence_mut": "A", "comment": "Inhibits histone 3'-end processing.", "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" }, { "database": "PubMed", "id": "18688255", "url": "https://pubmed.ncbi.nlm.nih.gov/18688255" } ], "uniprot_canonical_ac": "Q9UKF6-1" }, { "start_pos": 75, "end_pos": 75, "sequence_org": "D", "sequence_mut": "A", "comment": "Inhibits histone 3'-end processing.", "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" }, { "database": "PubMed", "id": "18688255", "url": "https://pubmed.ncbi.nlm.nih.gov/18688255" } ], "uniprot_canonical_ac": "Q9UKF6-1" }, { "start_pos": 76, "end_pos": 76, "sequence_org": "H", "sequence_mut": "A", "comment": "Inhibits histone 3'-end processing.", "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" }, { "database": "PubMed", "id": "18688255", "url": "https://pubmed.ncbi.nlm.nih.gov/18688255" } ], "uniprot_canonical_ac": "Q9UKF6-1" }, { "start_pos": 289, "end_pos": 289, "sequence_org": "D", "sequence_mut": "A", "comment": "Does not inhibit histone 3'-end processing.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2I0", "url": "https://www.uniprot.org/uniprotkb/Q9P2I0" }, { "database": "PubMed", "id": "18688255", "url": "https://pubmed.ncbi.nlm.nih.gov/18688255" } ], "uniprot_canonical_ac": "Q9P2I0-1" }, { "start_pos": 543, "end_pos": 543, "sequence_org": "R", "sequence_mut": "A", "comment": "Inhibits histone 3'-end processing.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2I0", "url": "https://www.uniprot.org/uniprotkb/Q9P2I0" }, { "database": "PubMed", "id": "18688255", "url": "https://pubmed.ncbi.nlm.nih.gov/18688255" } ], "uniprot_canonical_ac": "Q9P2I0-1" }, { "start_pos": 67, "end_pos": 67, "sequence_org": "H", "sequence_mut": "A", "comment": "Inhibits histone 3'-end processing.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2I0", "url": "https://www.uniprot.org/uniprotkb/Q9P2I0" }, { "database": "PubMed", "id": "18688255", "url": "https://pubmed.ncbi.nlm.nih.gov/18688255" } ], "uniprot_canonical_ac": "Q9P2I0-1" } ], "record_id": "pubmed.18688255", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Biosynthesis of histone messenger RNA employs a specific 3' end endonuclease.", "journal": "eLife", "date": "2018", "authors": "Pettinati I, Grzechnik P, Ribeiro de Almeida C, Brem J, McDonough MA, Dhir S, Proudfoot NJ, Schofield CJ", "reference": { "type": "PubMed", "id": "30507380", "url": "https://pubmed.ncbi.nlm.nih.gov/30507380" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKF6-1", "protein_name": "Cleavage and polyadenylation specificity factor subunit 3", "gene_name": "CPSF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "A4D2B0-1", "protein_name": "Metallo-beta-lactamase domain-containing protein 1", "gene_name": "MBLAC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 169, "end_pos": 169, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of endoribonuclease activity; when associated with A-192 and A-231.", "evidence": [ { "database": "UniProtKB", "id": "A4D2B0", "url": "https://www.uniprot.org/uniprotkb/A4D2B0" }, { "database": "PubMed", "id": "30507380", "url": "https://pubmed.ncbi.nlm.nih.gov/30507380" } ], "uniprot_canonical_ac": "A4D2B0-1" }, { "start_pos": 192, "end_pos": 192, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of endoribonuclease activity; when associated with A-169 and A-231.", "evidence": [ { "database": "UniProtKB", "id": "A4D2B0", "url": "https://www.uniprot.org/uniprotkb/A4D2B0" }, { "database": "PubMed", "id": "30507380", "url": "https://pubmed.ncbi.nlm.nih.gov/30507380" } ], "uniprot_canonical_ac": "A4D2B0-1" }, { "start_pos": 231, "end_pos": 231, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of endoribonuclease activity; when associated with A-169 and A-192.", "evidence": [ { "database": "UniProtKB", "id": "A4D2B0", "url": "https://www.uniprot.org/uniprotkb/A4D2B0" }, { "database": "PubMed", "id": "30507380", "url": "https://pubmed.ncbi.nlm.nih.gov/30507380" } ], "uniprot_canonical_ac": "A4D2B0-1" } ], "record_id": "pubmed.30507380", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.", "journal": "Nature communications", "date": "2022", "authors": "Arnadottir GA, Oddsson A, Jensson BO, Gisladottir S, Simon MT, Arnthorsson AO, Katrinardottir H, Fridriksdottir R, Ivarsdottir EV, Jonasdottir A, Jonasdottir A, Barrick R, Saemundsdottir J, le Roux L, Oskarsson GR, Asmundsson J, Steffensen T, Gudmundsson KR, Ludvigsson P, Jonsson JJ, Masson G, Jonsdottir I, Holm H, Jonasson JG, Magnusson OT, Thorarensen O, Abdenur J, Norddahl GL, Gudbjartsson DF, Bjornsson HT, Thorsteinsdottir U, Sulem P, Stefansson K", "reference": { "type": "PubMed", "id": "35121750", "url": "https://pubmed.ncbi.nlm.nih.gov/35121750" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKF6-1", "protein_name": "Cleavage and polyadenylation specificity factor subunit 3", "gene_name": "CPSF3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35121750", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "An examination of the metal ion content in the active sites of human endonucleases CPSF73 and INTS11.", "journal": "The Journal of biological chemistry", "date": "2023-02-21", "authors": "Huang Ji, Liu Xiangyang, Sun Yadong, Li Zhuang, Lin Min-Han, Hamilton Keith, Mandel CoreyR, Sandmeir Felix, Conti Elena, Oyala PaulH, Tong Liang", "reference": { "type": "PubMed", "id": "36822327", "url": "https://pubmed.ncbi.nlm.nih.gov/36822327" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKF6-1", "protein_name": "Cleavage and polyadenylation specificity factor subunit 3", "gene_name": "CPSF3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36822327", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Therapeutic targeting of CPSF3-dependent transcriptional termination in ovarian cancer.", "journal": "Science advances", "date": "2023-11-24", "authors": "Shen Peiye, Ye Kaiyan, Xiang Huaijiang, Zhang Zhenfeng, He Qinyang, Zhang Xiao, Cai Mei-Chun, Chen Junfei, Sun Yunheng, Lin Lifeng, Qi Chunting, Zhang Meiying, Cheung Lydia W T, Shi Tingyan, Yin Xia, Li Ying, Di Wen, Zang Rongyu, Tan Li, Zhuang Guanglei", "reference": { "type": "PubMed", "id": "37992178", "url": "https://pubmed.ncbi.nlm.nih.gov/37992178" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKF6-1", "protein_name": "Cleavage and polyadenylation specificity factor subunit 3", "gene_name": "CPSF3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37992178", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "CPSF3 inhibition blocks pancreatic cancer cell proliferation through disruption of core histone mRNA processing.", "journal": "RNA (New York, N.Y.)", "date": "2024-02-16", "authors": "Alahmari Abdulrahman A, Chaubey Aditi H, Jonnakuti Venkata S, Tisdale Arwen A, Schwarz Carla D, Cornwell Abigail C, Maraszek Kathryn E, Paterson Emily J, Kim Minsuh, Venkat Swati, Gomez Eduardo Cortes, Wang Jianmin, Gurova Katerina V, Yalamanchili Hari Krishna, Feigin Michael E", "reference": { "type": "PubMed", "id": "38191171", "url": "https://pubmed.ncbi.nlm.nih.gov/38191171" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKF6-1", "protein_name": "Cleavage and polyadenylation specificity factor subunit 3", "gene_name": "CPSF3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38191171", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "CPSF3 regulates alternative polyadenylation of CNIH2 to promote esophageal squamous cell carcinoma progression.", "journal": "Cancer letters", "date": "2024-07-01", "authors": "Zhang Ying, Liu Dongchen, Guo Dan, Lin Wenting, Lu Weiqing, Hu Lan, Chen Shuqin, Chen Chuangzhen", "reference": { "type": "PubMed", "id": "38718887", "url": "https://pubmed.ncbi.nlm.nih.gov/38718887" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKF6-1", "protein_name": "Cleavage and polyadenylation specificity factor subunit 3", "gene_name": "CPSF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6PI25-1", "protein_name": "Protein cornichon homolog 2", "gene_name": "CNIH2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKF6", "url": "https://www.uniprot.org/uniprotkb/Q9UKF6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38718887", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structural basis for FGF receptor dimerization and activation.", "journal": "Cell", "date": "1999", "authors": "Plotnikov AN, Schlessinger J, Hubbard SR, Mohammadi M", "reference": { "type": "PubMed", "id": "10490103", "url": "https://pubmed.ncbi.nlm.nih.gov/10490103" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10490103", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mapping ligand binding domains in chimeric fibroblast growth factor receptor molecules. Multiple regions determine ligand binding specificity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Chellaiah A, Yuan W, Chellaiah M, Ornitz DM", "reference": { "type": "PubMed", "id": "10574949", "url": "https://pubmed.ncbi.nlm.nih.gov/10574949" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10574949", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structural interactions of fibroblast growth factor receptor with its ligands.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Stauber DJ, DiGabriele AD, Hendrickson WA", "reference": { "type": "PubMed", "id": "10618369", "url": "https://pubmed.ncbi.nlm.nih.gov/10618369" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10618369", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.", "journal": "American journal of human genetics", "date": "2000", "authors": "Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, Francomano CA", "reference": { "type": "PubMed", "id": "11055896", "url": "https://pubmed.ncbi.nlm.nih.gov/11055896" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs28928868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28928868" }, { "id": "rs28928868", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28928868#frequency_tab" }, { "id": "rs28928868", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28928868" }, { "id": "11055896", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11055896" }, { "id": "rs28928868", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28928868" }, { "id": "rs752674541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752674541" }, { "id": "rs752674541", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752674541" }, { "id": "rs752674541", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752674541#frequency_tab" }, { "id": "rs752674541", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752674541" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 650, "end_pos": 650, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (KTT->NTT); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1806164", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K650", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00101.11.000.100", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "rs78311289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78311289" }, { "id": "rs78311289", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78311289" }, { "id": "rs78311289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs78311289" }, { "id": "11055896", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11055896" }, { "id": "11314002", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11314002" }, { "id": "16912704", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16912704" }, { "id": "18000903", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18000903" }, { "id": "rs78311289", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78311289" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "sequence_org": "K", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "4", "chr_pos": "1806162", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K650", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00101.11.000.100", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.11055896", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Yu K, Herr AB, Waksman G, Ornitz DM", "reference": { "type": "PubMed", "id": "11121055", "url": "https://pubmed.ncbi.nlm.nih.gov/11121055" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11121055", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of a new fibroblast growth factor receptor, FGFR5.", "journal": "Gene", "date": "2001", "authors": "Sleeman M, Fraser J, McDonald M, Yuan S, White D, Grandison P, Kumble K, Watson JD, Murison JG", "reference": { "type": "PubMed", "id": "11418238", "url": "https://pubmed.ncbi.nlm.nih.gov/11418238" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z698-1", "protein_name": "Sprouty-related, EVH1 domain-containing protein 2", "gene_name": "SPRED2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N441-1", "protein_name": "Fibroblast growth factor receptor-like 1", "gene_name": "FGFRL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z699-1", "protein_name": "Sprouty-related, EVH1 domain-containing protein 1", "gene_name": "SPRED1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q91V87-1", "protein_name": "Fibroblast growth factor receptor-like 1", "gene_name": "Fgfrl1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11418238", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 11 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Enhancement of fibroblast growth factor (FGF) activity by an FGF-binding protein.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Tassi E, Al-Attar A, Aigner A, Swift MR, McDonnell K, Karavanov A, Wellstein A", "reference": { "type": "PubMed", "id": "11509569", "url": "https://pubmed.ncbi.nlm.nih.gov/11509569" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TAT2-1", "protein_name": "Fibroblast growth factor-binding protein 3", "gene_name": "FGFBP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYJ0-1", "protein_name": "Fibroblast growth factor-binding protein 2", "gene_name": "FGFBP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14512-1", "protein_name": "Fibroblast growth factor-binding protein 1", "gene_name": "FGFBP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11509569", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.", "journal": "American journal of human genetics", "date": "2002", "authors": "Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO", "reference": { "type": "PubMed", "id": "11781872", "url": "https://pubmed.ncbi.nlm.nih.gov/11781872" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11781872", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2002", "authors": "Adar R, Monsonego-Ornan E, David P, Yayon A", "reference": { "type": "PubMed", "id": "12009017", "url": "https://pubmed.ncbi.nlm.nih.gov/12009017" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12009017", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structural basis by which alternative splicing confers specificity in fibroblast growth factor receptors.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2003", "authors": "Yeh Brian K, Igarashi Makoto, Eliseenkova Anna V, Plotnikov Alexander N, Sher Ifat, Ron Dina, Aaronson Stuart A, Mohammadi Moosa", "reference": { "type": "PubMed", "id": "12591959", "url": "https://pubmed.ncbi.nlm.nih.gov/12591959" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12591959", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The transmembrane protein XFLRT3 forms a complex with FGF receptors and promotes FGF signalling.", "journal": "Nature cell biology", "date": "2004", "authors": "Bottcher RT, Pollet N, Delius H, Niehrs C", "reference": { "type": "PubMed", "id": "14688794", "url": "https://pubmed.ncbi.nlm.nih.gov/14688794" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZU1-2", "protein_name": "Leucine-rich repeat transmembrane protein FLRT1", "gene_name": "FLRT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZU0-1", "protein_name": "Leucine-rich repeat transmembrane protein FLRT3", "gene_name": "FLRT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43155-1", "protein_name": "Leucine-rich repeat transmembrane protein FLRT2", "gene_name": "FLRT2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14688794", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.", "journal": "Human molecular genetics", "date": "2004", "authors": "Ibrahimi OA, Zhang F, Eliseenkova AV, Itoh N, Linhardt RJ, Mohammadi M", "reference": { "type": "PubMed", "id": "15282208", "url": "https://pubmed.ncbi.nlm.nih.gov/15282208" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121918510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918510" }, { "id": "rs121918510", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121918510" }, { "id": "15282208", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15282208" }, { "id": "7719333", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7719333" }, { "id": "9586546", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9586546" } ], "glycoeffect": [], "start_pos": 321, "end_pos": 321, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "10", "chr_pos": "121517441", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D321", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P21802-1" } ], "record_id": "pubmed.15282208", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.", "journal": "Nat. Genet.", "date": "2005", "authors": "Entesarian Miriam, Matsson Hans, Klar Joakim, Bergendal Birgitta, Olson Lena, Arakaki Rieko, Hayashi Yoshio, Ohuchi Hideyo, Falahat Babak, Bolstad Anne Isine, Jonsson Roland, Wahren-Herlenius Marie, Dahl Niklas", "reference": { "type": "PubMed", "id": "15654336", "url": "https://pubmed.ncbi.nlm.nih.gov/15654336" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs104893885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893885" }, { "id": "rs104893885", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104893885" }, { "id": "15654336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15654336" }, { "id": "16501574", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16501574" } ], "glycoeffect": [], "start_pos": 106, "end_pos": 106, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor.", "chr_id": "5", "chr_pos": "44388366", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C106", "disease": [ { "disease_id": "DOID:0081372", "recommended_name": { "id": "DOID:0081372", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081372", "name": "lacrimoauriculodentodigital syndrome 3", "description": "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12." }, "synonyms": [ { "id": "DOID:0081372", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081372", "name": "Lacrimo-auriculo-dento-digital syndrome 3", "description": "" }, { "id": "MONDO:0859578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859578", "name": "lacrimoauriculodentodigital syndrome 3", "description": "" }, { "id": "MIM:620193", "resource": "MIM", "url": "https://www.omim.org/entry/620193", "name": "Lacrimo-auriculo-dento-digital syndrome 3", "description": "Lacrimo-auriculo-dento-digital syndrome 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081372" }, { "id": "0081372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081372" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000010000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "O15520-1" }, { "evidence": [ { "id": "O15520", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O15520" }, { "id": "rs104893884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893884" }, { "id": "rs104893884", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs104893884" }, { "id": "rs104893884", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893884" }, { "id": "rs104893884", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104893884#frequency_tab" }, { "id": "rs104893884", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104893884" }, { "id": "15654336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15654336" } ], "glycoeffect": [], "start_pos": 193, "end_pos": 193, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor).", "chr_id": "5", "chr_pos": "44305045", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R193", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0111549", "recommended_name": { "id": "DOID:0111549", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111549", "name": "aplasia of lacrimal and salivary glands", "description": "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12." }, "synonyms": [ { "id": "DOID:0111549", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111549", "name": "congenital absence of lacrimal puncta and salivary glands", "description": "" }, { "id": "DOID:0111549", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111549", "name": "ALSG", "description": "" }, { "id": "MONDO:0008397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008397", "name": "aplasia of lacrimal and salivary glands", "description": "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." }, { "id": "MONDO:0008397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008397", "name": "ALSG", "description": "" }, { "id": "MONDO:0008397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008397", "name": "aplasia of lacrimal and salivary glands", "description": "" }, { "id": "MONDO:0008397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008397", "name": "congenital absence of lacrimal puncta and salivary glands", "description": "" }, { "id": "MIM:180920", "resource": "MIM", "url": "https://www.omim.org/entry/180920", "name": "Aplasia of lacrimal and salivary glands", "description": "Aplasia of lacrimal and salivary glands" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111549" }, { "id": "0111549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111549" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O15520-1" } ], "record_id": "pubmed.15654336", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The fibroblast growth factor binding protein is a novel interaction partner of FGF-7, FGF-10 and FGF-22 and regulates FGF activity: implications for epithelial repair.", "journal": "Oncogene", "date": "2005", "authors": "Beer HD, Bittner M, Niklaus G, Munding C, Max N, Goppelt A, Werner S", "reference": { "type": "PubMed", "id": "15806171", "url": "https://pubmed.ncbi.nlm.nih.gov/15806171" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O70514-1", "protein_name": "Fibroblast growth factor-binding protein 1", "gene_name": "Fgfbp1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TAT2-1", "protein_name": "Fibroblast growth factor-binding protein 3", "gene_name": "FGFBP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYJ0-1", "protein_name": "Fibroblast growth factor-binding protein 2", "gene_name": "FGFBP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14512-1", "protein_name": "Fibroblast growth factor-binding protein 1", "gene_name": "FGFBP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15806171", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 10 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cellular signaling by fibroblast growth factor receptors.", "journal": "Cytokine & growth factor reviews", "date": "2005", "authors": "Eswarakumar VP, Lax I, Schlessinger J", "reference": { "type": "PubMed", "id": "15863030", "url": "https://pubmed.ncbi.nlm.nih.gov/15863030" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P42336-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform", "gene_name": "PIK3CA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WU20-1", "protein_name": "Fibroblast growth factor receptor substrate 2", "gene_name": "FRS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95750-1", "protein_name": "Fibroblast growth factor 19", "gene_name": "FGF19", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06124-2", "protein_name": "Tyrosine-protein phosphatase non-receptor type 11", "gene_name": "PTPN11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13480-1", "protein_name": "GRB2-associated-binding protein 1", "gene_name": "GAB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22455-1", "protein_name": "Fibroblast growth factor receptor 4", "gene_name": "FGFR4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86Z14-1", "protein_name": "Beta-klotho", "gene_name": "KLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27986-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit alpha", "gene_name": "PIK3R1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P19174-1", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1", "gene_name": "PLCG1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15863030", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 25 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Somatic mutations of the protein kinase gene family in human lung cancer.", "journal": "Cancer research", "date": "2005", "authors": "Davies H, Hunter C, Smith R, Stephens P, Greenman C, Bignell G, Teague J, Butler A, Edkins S, Stevens C, Parker A, O'Meara S, Avis T, Barthorpe S, Brackenbury L, Buck G, Clements J, Cole J, Dicks E, Edwards K, Forbes S, Gorton M, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jones D, Kosmidou V, Laman R, Lugg R, Menzies A, Perry J, Petty R, Raine K, Shepherd R, Small A, Solomon H, Stephens Y, Tofts C, Varian J, Webb A, West S, Widaa S, Yates A, Brasseur F, Cooper CS, Flanagan AM, Green A, Knowles M, Leung SY, Looijenga LH, Malkowicz B, Pierotti MA, Teh BT, Yuen ST, Lakhani SR, Easton DF, Weber BL, Goldstraw P, Nicholson AG, Wooster R, Stratton MR, Futreal PA", "reference": { "type": "PubMed", "id": "16140923", "url": "https://pubmed.ncbi.nlm.nih.gov/16140923" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16832-1", "protein_name": "Discoidin domain-containing receptor 2", "gene_name": "DDR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16140923", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The fibroblast growth factor-binding protein FGF-BP.", "journal": "The international journal of biochemistry & cell biology", "date": "2006", "authors": "Abuharbeid S, Czubayko F, Aigner A", "reference": { "type": "PubMed", "id": "16324873", "url": "https://pubmed.ncbi.nlm.nih.gov/16324873" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21781-1", "protein_name": "Fibroblast growth factor 7", "gene_name": "FGF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TAT2-1", "protein_name": "Fibroblast growth factor-binding protein 3", "gene_name": "FGFBP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYJ0-1", "protein_name": "Fibroblast growth factor-binding protein 2", "gene_name": "FGFBP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14512-1", "protein_name": "Fibroblast growth factor-binding protein 1", "gene_name": "FGFBP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16324873", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in different components of FGF signaling in LADD syndrome.", "journal": "Nature genetics", "date": "2006", "authors": "Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B", "reference": { "type": "PubMed", "id": "16501574", "url": "https://pubmed.ncbi.nlm.nih.gov/16501574" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs104893885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893885" }, { "id": "rs104893885", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104893885" }, { "id": "15654336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15654336" }, { "id": "16501574", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16501574" } ], "glycoeffect": [], "start_pos": 106, "end_pos": 106, "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor.", "chr_id": "5", "chr_pos": "44388366", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C106", "disease": [ { "disease_id": "DOID:0081372", "recommended_name": { "id": "DOID:0081372", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081372", "name": "lacrimoauriculodentodigital syndrome 3", "description": "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12." }, "synonyms": [ { "id": "DOID:0081372", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081372", "name": "Lacrimo-auriculo-dento-digital syndrome 3", "description": "" }, { "id": "MONDO:0859578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859578", "name": "lacrimoauriculodentodigital syndrome 3", "description": "" }, { "id": "MIM:620193", "resource": "MIM", "url": "https://www.omim.org/entry/620193", "name": "Lacrimo-auriculo-dento-digital syndrome 3", "description": "Lacrimo-auriculo-dento-digital syndrome 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081372" }, { "id": "0081372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081372" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000010000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "O15520-1" }, { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs778548356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778548356" }, { "id": "rs778548356", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778548356" }, { "id": "rs778548356", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778548356#frequency_tab" }, { "id": "rs778548356", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778548356" }, { "id": "rs121913112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913112" }, { "id": "rs121913112", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913112" }, { "id": "rs121913112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121913112#frequency_tab" }, { "id": "rs121913112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121913112" }, { "id": "16501574", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16501574" }, { "id": "rs778548356", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs778548356" }, { "id": "rs121913112", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121913112" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 513, "end_pos": 513, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 3 filters: num. of cancers (3); n-glyco-sequon-gain (DAT->NAT); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1805561", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D513", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.100", "uniprot_canonical_ac": "P22607-1" }, { "evidence": [ { "id": "rs121918509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918509" }, { "id": "rs121918509", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121918509" }, { "id": "16501574", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16501574" }, { "id": "18056630", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18056630" }, { "id": "rs2133770481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2133770481" }, { "id": "rs2133770481", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2133770481" } ], "glycoeffect": [], "start_pos": 628, "end_pos": 628, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "10", "chr_pos": "121488095", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A628", "disease": [ { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P21802-1" }, { "evidence": [ { "id": "P21802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21802" }, { "id": "rs121918508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918508" }, { "id": "rs121918508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121918508#frequency_tab" }, { "id": "16501574", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16501574" }, { "id": "rs121918508", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121918508" } ], "glycoeffect": [], "start_pos": 648, "end_pos": 648, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "10", "chr_pos": "121488035", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A648", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P21802-1" } ], "record_id": "pubmed.16501574", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Autophosphorylation of FGFR1 kinase is mediated by a sequential and precisely ordered reaction.", "journal": "Molecular cell", "date": "2006", "authors": "Furdui CM, Lew ED, Schlessinger J, Anderson KS", "reference": { "type": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11487-1", "protein_name": "Fibroblast growth factor 3", "gene_name": "FGF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P23352-1", "protein_name": "Anosmin-1", "gene_name": "ANOS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCT0-1", "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14908-1", "protein_name": "PDZ domain-containing protein GIPC1", "gene_name": "GIPC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03167-1", "protein_name": "Transforming growth factor beta receptor type 3", "gene_name": "TGFBR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 463, "end_pos": 463, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" }, { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "site_lbl": "Tyr463", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 583, "end_pos": 583, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" }, { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "site_lbl": "Tyr583", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 585, "end_pos": 585, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" }, { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "site_lbl": "Tyr585", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" }, { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "site_lbl": "Tyr653", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18083107", "url": "https://pubmed.ncbi.nlm.nih.gov/18083107" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr653", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 654, "end_pos": 654, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" }, { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "site_lbl": "Tyr654", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 730, "end_pos": 730, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" }, { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" } ], "site_lbl": "Tyr730", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 766, "end_pos": 766, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "1656221", "url": "https://pubmed.ncbi.nlm.nih.gov/1656221" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" }, { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" } ], "site_lbl": "Tyr766", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.16507368", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 14 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "LADD syndrome is caused by FGF10 mutations.", "journal": "Clinical genetics", "date": "2006", "authors": "Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB", "reference": { "type": "PubMed", "id": "16630169", "url": "https://pubmed.ncbi.nlm.nih.gov/16630169" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15520-1", "protein_name": "Fibroblast growth factor 10", "gene_name": "FGF10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15520", "url": "https://www.uniprot.org/uniprotkb/O15520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs104893887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893887" }, { "id": "rs104893887", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104893887" }, { "id": "16630169", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16630169" } ], "glycoeffect": [], "start_pos": 137, "end_pos": 137, "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor.", "chr_id": "5", "chr_pos": "44310447", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K137", "disease": [ { "disease_id": "DOID:0111549", "recommended_name": { "id": "DOID:0111549", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111549", "name": "aplasia of lacrimal and salivary glands", "description": "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12." }, "synonyms": [ { "id": "DOID:0111549", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111549", "name": "congenital absence of lacrimal puncta and salivary glands", "description": "" }, { "id": "DOID:0111549", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111549", "name": "ALSG", "description": "" }, { "id": "MONDO:0008397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008397", "name": "aplasia of lacrimal and salivary glands", "description": "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." }, { "id": "MONDO:0008397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008397", "name": "ALSG", "description": "" }, { "id": "MONDO:0008397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008397", "name": "aplasia of lacrimal and salivary glands", "description": "" }, { "id": "MONDO:0008397", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008397", "name": "congenital absence of lacrimal puncta and salivary glands", "description": "" }, { "id": "MIM:180920", "resource": "MIM", "url": "https://www.omim.org/entry/180920", "name": "Aplasia of lacrimal and salivary glands", "description": "Aplasia of lacrimal and salivary glands" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111549" }, { "id": "0111549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111549" } ] }, { "disease_id": "DOID:0081372", "recommended_name": { "id": "DOID:0081372", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081372", "name": "lacrimoauriculodentodigital syndrome 3", "description": "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12." }, "synonyms": [ { "id": "DOID:0081372", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081372", "name": "Lacrimo-auriculo-dento-digital syndrome 3", "description": "" }, { "id": "MONDO:0859578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859578", "name": "lacrimoauriculodentodigital syndrome 3", "description": "" }, { "id": "MIM:620193", "resource": "MIM", "url": "https://www.omim.org/entry/620193", "name": "Lacrimo-auriculo-dento-digital syndrome 3", "description": "Lacrimo-auriculo-dento-digital syndrome 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081372" }, { "id": "0081372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081372" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O15520-1" }, { "evidence": [ { "id": "rs104893886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893886" }, { "id": "rs104893886", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104893886" }, { "id": "16630169", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16630169" } ], "glycoeffect": [], "start_pos": 156, "end_pos": 156, "sequence_org": "I", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor.", "chr_id": "5", "chr_pos": "44305155", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I156", "disease": [ { "disease_id": "DOID:0081372", "recommended_name": { "id": "DOID:0081372", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081372", "name": "lacrimoauriculodentodigital syndrome 3", "description": "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12." }, "synonyms": [ { "id": "DOID:0081372", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081372", "name": "Lacrimo-auriculo-dento-digital syndrome 3", "description": "" }, { "id": "MONDO:0859578", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859578", "name": "lacrimoauriculodentodigital syndrome 3", "description": "" }, { "id": "MIM:620193", "resource": "MIM", "url": "https://www.omim.org/entry/620193", "name": "Lacrimo-auriculo-dento-digital syndrome 3", "description": "Lacrimo-auriculo-dento-digital syndrome 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081372" }, { "id": "0081372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081372" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "O15520-1" } ], "record_id": "pubmed.16630169", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] } ]