[ { "title": "Clinical and biological relevance of CREB3L1 in Philadelphia chromosome-negative myeloproliferative neoplasms.", "journal": "Leukemia research", "date": "2022", "authors": "De Marchi F, Okuda M, Morishita S, Imai M, Baba T, Horino M, Mori Y, Furuya C, Ogata S, Yang Y, Ando J, Ando M, Araki M, Komatsu N", "reference": { "type": "PubMed", "id": "35689957", "url": "https://pubmed.ncbi.nlm.nih.gov/35689957" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96BA8-1", "protein_name": "Cyclic AMP-responsive element-binding protein 3-like protein 1", "gene_name": "CREB3L1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96BA8", "url": "https://www.uniprot.org/uniprotkb/Q96BA8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35689957", "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": "Reduced CREB3L1 expression in triple negative and luminal a breast cancer cells contributes to enhanced cell migration, anchorage-independent growth and metastasis.", "journal": "PloS one", "date": "2022", "authors": "Mellor P, Kendall S, Smith S, Saxena A, Anderson DH", "reference": { "type": "PubMed", "id": "35802566", "url": "https://pubmed.ncbi.nlm.nih.gov/35802566" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96BA8-1", "protein_name": "Cyclic AMP-responsive element-binding protein 3-like protein 1", "gene_name": "CREB3L1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96BA8", "url": "https://www.uniprot.org/uniprotkb/Q96BA8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35802566", "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": "CREB3L1 promotes tumor growth and metastasis of anaplastic thyroid carcinoma by remodeling the tumor microenvironment.", "journal": "Molecular cancer", "date": "2022", "authors": "Pan Z, Xu T, Bao L, Hu X, Jin T, Chen J, Chen J, Qian Y, Lu X, Li L, Zheng G, Zhang Y, Zou X, Song F, Zheng C, Jiang L, Wang J, Tan Z, Huang P, Ge M", "reference": { "type": "PubMed", "id": "36192735", "url": "https://pubmed.ncbi.nlm.nih.gov/36192735" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96BA8-1", "protein_name": "Cyclic AMP-responsive element-binding protein 3-like protein 1", "gene_name": "CREB3L1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96BA8", "url": "https://www.uniprot.org/uniprotkb/Q96BA8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36192735", "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 testis-specific human protein RBMY recognizes RNA through a novel mode of interaction.", "journal": "EMBO Rep.", "date": "2007", "authors": "Skrisovska Lenka, Bourgeois Cyril F, Stefl Richard, Grellscheid Sushma-Nagaraja, Kister Liliane, Wenter Philipp, Elliott David J, Stevenin James, Allain Fr\u00e9d\u00e9ric H-T", "reference": { "type": "PubMed", "id": "17318228", "url": "https://pubmed.ncbi.nlm.nih.gov/17318228" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P0DJD3-1", "protein_name": "RNA-binding motif protein, Y chromosome, family 1 member A1", "gene_name": "RBMY1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprotkb/P0DJD3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17318228", "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": "PIM1-Induced Cytoplasmic Expression of RBMY Mediates Hepatocellular Carcinoma Metastasis.", "journal": "Cellular and molecular gastroenterology and hepatology", "date": "2023", "authors": "Chua Huey-Huey, Chang Mei-Hwei, Chen Ya-Hui, Tsuei Daw-Jen, Jeng Yung-Ming, Lee Po-Huang, Ni Yen-Hsuan", "reference": { "type": "PubMed", "id": "36191855", "url": "https://pubmed.ncbi.nlm.nih.gov/36191855" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P0DJD3-1", "protein_name": "RNA-binding motif protein, Y chromosome, family 1 member A1", "gene_name": "RBMY1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprotkb/P0DJD3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36191855", "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 new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.", "journal": "Neuromuscular disorders : NMD", "date": "1999", "authors": "Andreu AL, Bruno C, Tamburino L, Gamez J, Shanske S, Cervera C, Navarro C, DiMauro S", "reference": { "type": "PubMed", "id": "10382911", "url": "https://pubmed.ncbi.nlm.nih.gov/10382911" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10382911", "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": "McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.", "journal": "Neuromuscular disorders : NMD", "date": "1999", "authors": "Rubio JC, Martin MA, Garcia A, Campos Y, Cabello A, Culebras JM, Arenas J", "reference": { "type": "PubMed", "id": "10382912", "url": "https://pubmed.ncbi.nlm.nih.gov/10382912" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10382912", "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 new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.", "journal": "Muscle & nerve", "date": "1999", "authors": "Gamez J, Fernandez R, Bruno C, Andreu AL, Cervera C, Navarro C, Schwartz S, Dimauro S", "reference": { "type": "PubMed", "id": "10417800", "url": "https://pubmed.ncbi.nlm.nih.gov/10417800" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10417800", "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": "Molecular characterization of McArdle's disease in two large Finnish families.", "journal": "Journal of the neurological sciences", "date": "1999-06-01", "authors": "Bruno C, L\u00f6fberg M, Tamburino L, J\u00e4nk\u00e4l\u00e4 H, Hadjigeorgiou G M, Andreu A L, Shanske S, Somer H, DiMauro S", "reference": { "type": "PubMed", "id": "10450796", "url": "https://pubmed.ncbi.nlm.nih.gov/10450796" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119103257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103257" }, { "id": "rs119103257", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs119103257" }, { "id": "10450796", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10450796" } ], "glycoeffect": [], "start_pos": 541, "end_pos": 541, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64752071", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E541", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000001000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.10450796", "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": "A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.", "journal": "Muscle & nerve", "date": "2000", "authors": "Rubio JC, Martin MA, Campos Y, Auciello R, Cabello A, Arenas J", "reference": { "type": "PubMed", "id": "10590419", "url": "https://pubmed.ncbi.nlm.nih.gov/10590419" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10590419", "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": "Dominant inheritance of McArdle syndrome.", "journal": "Archives of neurology", "date": "1976-09", "authors": "Chui L A, Munsat T L", "reference": { "type": "PubMed", "id": "1067063", "url": "https://pubmed.ncbi.nlm.nih.gov/1067063" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs116987552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116987552" }, { "id": "rs116987552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116987552#frequency_tab" }, { "id": "rs116987552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116987552" }, { "id": "1067063", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1067063" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "14748827", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14748827" }, { "id": "17915571", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17915571" }, { "id": "2391551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2391551" }, { "id": "3476861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3476861" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" }, { "id": "8401511", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8401511" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R50", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.1067063", "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": "A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.", "journal": "Archives of neurology", "date": "2000", "authors": "Fernandez R, Navarro C, Andreu AL, Bruno C, Shanske S, Gamez J, Teijeira S, Hernandez I, Teijeiro A, Fernandez JM, Musumeci O, DiMauro S", "reference": { "type": "PubMed", "id": "10681080", "url": "https://pubmed.ncbi.nlm.nih.gov/10681080" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119103258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103258" }, { "id": "rs119103258", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103258" }, { "id": "rs119103258", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103258#frequency_tab" }, { "id": "rs119103258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103258" }, { "id": "10681080", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10681080" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "rs119103258", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs119103258" } ], "glycoeffect": [], "start_pos": 798, "end_pos": 798, "sequence_org": "W", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64746796", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W798", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "000000000000000001000.00000000000000.000000000001000000.00001.01.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.10681080", "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": "A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease.", "journal": "Neuromuscular disorders : NMD", "date": "2000", "authors": "Rubio JC, Martin MA, Campos Y, Cabello A, Arenas J", "reference": { "type": "PubMed", "id": "10714589", "url": "https://pubmed.ncbi.nlm.nih.gov/10714589" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10714589", "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 homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.", "journal": "Neuromuscular disorders : NMD", "date": "2000", "authors": "Martin MA, Rubio JC, Campos Y, Ricoy JR, Cabello A, Arenas J", "reference": { "type": "PubMed", "id": "10899452", "url": "https://pubmed.ncbi.nlm.nih.gov/10899452" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10899452", "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": "Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease.", "journal": "Clinical genetics", "date": "2001-01", "authors": "Mart\u00edn M A, Rubio J C, Garc\u00eda A, Fern\u00e1ndez M A, Campos Y, Krawczak M, Cooper D N, Arenas J", "reference": { "type": "PubMed", "id": "11168025", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs119103251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103251" }, { "id": "rs119103251", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs119103251" }, { "id": "rs119103251", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103251" }, { "id": "rs119103251", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103251#frequency_tab" }, { "id": "rs119103251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103251" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" } ], "glycoeffect": [], "start_pos": 205, "end_pos": 205, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "11", "chr_pos": "64757826", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G205", "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:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "rs2058376262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058376262" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" } ], "glycoeffect": [], "start_pos": 388, "end_pos": 388, "sequence_org": "W", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64753949_64753956deli", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W388", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000001000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "rs116987552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116987552" }, { "id": "rs116987552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116987552#frequency_tab" }, { "id": "rs116987552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116987552" }, { "id": "1067063", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1067063" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "14748827", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14748827" }, { "id": "17915571", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17915571" }, { "id": "2391551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2391551" }, { "id": "3476861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3476861" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" }, { "id": "8401511", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8401511" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R50", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "rs119103258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103258" }, { "id": "rs119103258", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103258" }, { "id": "rs119103258", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103258#frequency_tab" }, { "id": "rs119103258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103258" }, { "id": "10681080", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10681080" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "rs119103258", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs119103258" } ], "glycoeffect": [], "start_pos": 798, "end_pos": 798, "sequence_org": "W", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64746796", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W798", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "000000000000000001000.00000000000000.000000000001000000.00001.01.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.11168025", "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": "Regulation of glycogen phosphorylase. Role of the peptide region surrounding the phosphoserine residue in determining enzyme properties.", "journal": "The Journal of biological chemistry", "date": "1975", "authors": "Carty TJ, Tu J-I, Graves DJ", "reference": { "type": "PubMed", "id": "1150650", "url": "https://pubmed.ncbi.nlm.nih.gov/1150650" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PHK; in form phosphorylase A", "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" }, { "database": "iPTMnet", "id": "P11217", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11217" }, { "database": "PubMed", "id": "16083285", "url": "https://pubmed.ncbi.nlm.nih.gov/16083285" }, { "database": "PubMed", "id": "1150650", "url": "https://pubmed.ncbi.nlm.nih.gov/1150650" } ], "site_lbl": "Ser15", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.1150650", "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": "Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.", "journal": "Annals of neurology", "date": "2001", "authors": "Martin MA, Rubio JC, Buchbinder J, Fernandez-Hojas R, del Hoyo P, Teijeira S, Gamez J, Navarro C, Fernandez JM, Cabello A, Campos Y, Cervera C, Culebras JM, Andreu AL, Fletterick R, Arenas J", "reference": { "type": "PubMed", "id": "11706962", "url": "https://pubmed.ncbi.nlm.nih.gov/11706962" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11706962", "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 new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.", "journal": "Neuromuscular disorders : NMD", "date": "2002", "authors": "Bruno C, Lanzillo R, Biedi C, Iadicicco L, Minetti C, Santoro L", "reference": { "type": "PubMed", "id": "12031624", "url": "https://pubmed.ncbi.nlm.nih.gov/12031624" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12031624", "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": "Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease.", "journal": "Neurology", "date": "2003-11-25", "authors": "Fernandez-Cadenas I, Andreu A L, Gamez J, Gonzalo R, Mart\u00edn M A, Rubio J C, Arenas J", "reference": { "type": "PubMed", "id": "14638972", "url": "https://pubmed.ncbi.nlm.nih.gov/14638972" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119103260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103260" }, { "id": "rs119103260", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103260#frequency_tab" }, { "id": "rs119103260", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103260" }, { "id": "14638972", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14638972" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 574, "end_pos": 574, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64751970", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y574", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.14638972", "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": "Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.", "journal": "Annals of human genetics", "date": "2004-01", "authors": "Mart\u00edn M A, Rubio J C, Wevers R A, Van Engelen B G M, Steenbergen G C H, Van Diggelen O P, De Visser M, De Die-Smulders C, Bl\u00e1zquez A, Andreu A L, Arenas J", "reference": { "type": "PubMed", "id": "14748827", "url": "https://pubmed.ncbi.nlm.nih.gov/14748827" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs116987552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116987552" }, { "id": "rs116987552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116987552#frequency_tab" }, { "id": "rs116987552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116987552" }, { "id": "1067063", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1067063" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "14748827", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14748827" }, { "id": "17915571", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17915571" }, { "id": "2391551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2391551" }, { "id": "3476861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3476861" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" }, { "id": "8401511", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8401511" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R50", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.14748827", "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 crystal structure of human muscle glycogen phosphorylase a with bound glucose and AMP: an intermediate conformation with T-state and R-state features.", "journal": "Proteins", "date": "2006", "authors": "Lukacs CM, Oikonomakos NG, Crowther RL, Hong LN, Kammlott RU, Levin W, Li S, Liu CM, Lucas-McGady D, Pietranico S, Reik L", "reference": { "type": "PubMed", "id": "16523484", "url": "https://pubmed.ncbi.nlm.nih.gov/16523484" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16523484", "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": "McArdle disease: molecular genetic update.", "journal": "Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology", "date": "2007-07", "authors": "Andreu A L, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C", "reference": { "type": "PubMed", "id": "17915571", "url": "https://pubmed.ncbi.nlm.nih.gov/17915571" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs116987552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116987552" }, { "id": "rs116987552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116987552#frequency_tab" }, { "id": "rs116987552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116987552" }, { "id": "1067063", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1067063" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "14748827", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14748827" }, { "id": "17915571", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17915571" }, { "id": "2391551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2391551" }, { "id": "3476861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3476861" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" }, { "id": "8401511", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8401511" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R50", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.17915571", "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": "Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.", "journal": "Molecular genetics and metabolism", "date": "2011-12", "authors": "Wu Y, Weber J L, Vladutiu G D, Tarnopolsky M A", "reference": { "type": "PubMed", "id": "21880526", "url": "https://pubmed.ncbi.nlm.nih.gov/21880526" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs397514631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397514631" }, { "id": "rs397514631", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs397514631#frequency_tab" }, { "id": "21880526", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21880526" } ], "glycoeffect": [], "start_pos": 51, "end_pos": 51, "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759747", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D51", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "rs1325298827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325298827" }, { "id": "21880526", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21880526" }, { "id": "rs2135842587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135842587" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 53, "end_pos": 53, "sequence_org": "Y", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759739AGT", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y53", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.21880526", "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": "McArdle's disease: two clinical expressions in the same pedigree.", "journal": "Journal of neurology", "date": "1990-07", "authors": "Papadimitriou A, Manta P, Divari R, Karabetsos A, Papadimitriou E, Bresolin N", "reference": { "type": "PubMed", "id": "2391551", "url": "https://pubmed.ncbi.nlm.nih.gov/2391551" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs116987552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116987552" }, { "id": "rs116987552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116987552#frequency_tab" }, { "id": "rs116987552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116987552" }, { "id": "1067063", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1067063" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "14748827", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14748827" }, { "id": "17915571", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17915571" }, { "id": "2391551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2391551" }, { "id": "3476861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3476861" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" }, { "id": "8401511", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8401511" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R50", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.2391551", "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": "PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.", "journal": "PloS one", "date": "2020", "authors": "Carvalho AAS, Christofolini DM, Perez MM, Alves BCA, Rodart I, Figueiredo FWS, Turke KC, Feder D, Junior MCF, Nucci AM, Fonseca FLA", "reference": { "type": "PubMed", "id": "32735634", "url": "https://pubmed.ncbi.nlm.nih.gov/32735634" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32735634", "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 Glycogen Phosphorylase and Its Functional Partners in Health and Disease.", "journal": "Cells", "date": "2021", "authors": "Migocka-Patrzalek M, Elias M", "reference": { "type": "PubMed", "id": "33924466", "url": "https://pubmed.ncbi.nlm.nih.gov/33924466" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33924466", "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": "Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase.", "journal": "Proteins", "date": "1987", "authors": "Burke J, Hwang P, Anderson L, Lebo R, Gorin F, Fletterick R", "reference": { "type": "PubMed", "id": "3447177", "url": "https://pubmed.ncbi.nlm.nih.gov/3447177" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3447177", "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": "Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis.", "journal": "J. Clin. Invest.", "date": "1987", "authors": "Gautron S, Daegelen D, Mennecier F, Dubocq D, Kahn A, Dreyfus J C", "reference": { "type": "PubMed", "id": "3466902", "url": "https://pubmed.ncbi.nlm.nih.gov/3466902" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3466902", "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": "McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote.", "journal": "Neurology", "date": "1987-09", "authors": "Schmidt B, Servidei S, Gabbai A A, Silva A C, de Sousa Bulle de Oliveira A, DiMauro S", "reference": { "type": "PubMed", "id": "3476861", "url": "https://pubmed.ncbi.nlm.nih.gov/3476861" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs116987552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116987552" }, { "id": "rs116987552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116987552#frequency_tab" }, { "id": "rs116987552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116987552" }, { "id": "1067063", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1067063" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "14748827", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14748827" }, { "id": "17915571", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17915571" }, { "id": "2391551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2391551" }, { "id": "3476861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3476861" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" }, { "id": "8401511", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8401511" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R50", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.3476861", "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": "Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.", "journal": "Cold Spring Harbor molecular case studies", "date": "2022", "authors": "Thomas-Wilson A, Dharmadhikari AV, Heymann JJ, Jobanputra V, DiMauro S, Hirano M, Naini AB, Ganapathi M", "reference": { "type": "PubMed", "id": "35022222", "url": "https://pubmed.ncbi.nlm.nih.gov/35022222" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35022222", "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 molecular genetic basis of myophosphorylase deficiency (McArdle's disease).", "journal": "Muscle & nerve. Supplement", "date": "1995", "authors": "Tsujino S, Shanske S, Nonaka I, DiMauro S", "reference": { "type": "PubMed", "id": "7603523", "url": "https://pubmed.ncbi.nlm.nih.gov/7603523" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7603523", "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 A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).", "journal": "Human mutation", "date": "1994", "authors": "Tsujino S, Rubin L A, Shanske S, DiMauro S", "reference": { "type": "PubMed", "id": "7951262", "url": "https://pubmed.ncbi.nlm.nih.gov/7951262" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs267606993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606993" }, { "id": "7951262", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7951262" } ], "glycoeffect": [], "start_pos": 1, "end_pos": 1, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759898", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000100000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.7951262", "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": "Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).", "journal": "The New England journal of medicine", "date": "1993", "authors": "Tsujino S, Shanske S, DiMauro S", "reference": { "type": "PubMed", "id": "8316268", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs119103251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103251" }, { "id": "rs119103251", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs119103251" }, { "id": "rs119103251", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103251" }, { "id": "rs119103251", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103251#frequency_tab" }, { "id": "rs119103251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103251" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" } ], "glycoeffect": [], "start_pos": 205, "end_pos": 205, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "11", "chr_pos": "64757826", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G205", "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:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "rs116987552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116987552" }, { "id": "rs116987552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116987552#frequency_tab" }, { "id": "rs116987552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116987552" }, { "id": "1067063", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1067063" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "14748827", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14748827" }, { "id": "17915571", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17915571" }, { "id": "2391551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2391551" }, { "id": "3476861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3476861" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" }, { "id": "8401511", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8401511" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R50", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "rs119103252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103252" }, { "id": "rs119103252", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103252#frequency_tab" }, { "id": "rs119103252", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103252" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" } ], "glycoeffect": [], "start_pos": 543, "end_pos": 543, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64752064", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K543", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.8316268", "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": "McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.", "journal": "Human molecular genetics", "date": "1993-08", "authors": "Bartram C, Edwards R H, Clague J, Beynon R J", "reference": { "type": "PubMed", "id": "8401511", "url": "https://pubmed.ncbi.nlm.nih.gov/8401511" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs116987552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116987552" }, { "id": "rs116987552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116987552#frequency_tab" }, { "id": "rs116987552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116987552" }, { "id": "1067063", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1067063" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "14748827", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14748827" }, { "id": "17915571", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17915571" }, { "id": "2391551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2391551" }, { "id": "3476861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3476861" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" }, { "id": "8401511", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8401511" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R50", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.8401511", "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": "Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).", "journal": "Human mutation", "date": "1995", "authors": "Tsujino S, Shanske S, Martinuzzi A, Heiman-Patterson T, DiMauro S", "reference": { "type": "PubMed", "id": "8535454", "url": "https://pubmed.ncbi.nlm.nih.gov/8535454" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119103254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103254" }, { "id": "rs119103254", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs119103254" }, { "id": "8535454", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8535454" } ], "glycoeffect": [], "start_pos": 396, "end_pos": 396, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64753931", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L396", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs119103253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103253" }, { "id": "rs119103253", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103253" }, { "id": "rs119103253", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103253#frequency_tab" }, { "id": "rs119103253", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103253" }, { "id": "8535454", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8535454" } ], "glycoeffect": [], "start_pos": 655, "end_pos": 655, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "11", "chr_pos": "64751331", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E655", "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:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000001000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.8535454", "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": "Mutation analysis in myophosphorylase deficiency (McArdle's disease).", "journal": "Annals of neurology", "date": "1998", "authors": "Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW", "reference": { "type": "PubMed", "id": "9506549", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P11217", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217" }, { "id": "rs119103255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103255" }, { "id": "rs119103255", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103255" }, { "id": "rs119103255", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103255#frequency_tab" }, { "id": "rs119103255", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103255" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" }, { "id": "rs119103255", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs119103255" } ], "glycoeffect": [], "start_pos": 576, "end_pos": 576, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "11", "chr_pos": "64751966", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R576", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "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:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "rs267606993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606993" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 1, "end_pos": 1, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759898", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000100000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "rs116987552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs116987552" }, { "id": "rs116987552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs116987552" }, { "id": "rs116987552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs116987552#frequency_tab" }, { "id": "rs116987552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs116987552" }, { "id": "1067063", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1067063" }, { "id": "11168025", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11168025" }, { "id": "14748827", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14748827" }, { "id": "17915571", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17915571" }, { "id": "2391551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2391551" }, { "id": "3476861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/3476861" }, { "id": "8316268", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8316268" }, { "id": "8401511", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8401511" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64759751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R50", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "rs786200874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs786200874" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 575, "end_pos": 575, "sequence_org": "K", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64751969", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K575", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "rs119103256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103256" }, { "id": "rs119103256", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119103256#frequency_tab" }, { "id": "rs119103256", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119103256" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 666, "end_pos": 666, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64750557", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q666", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000100000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11217-1" }, { "evidence": [ { "id": "rs144081869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144081869" }, { "id": "rs144081869", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144081869" }, { "id": "rs144081869", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144081869#frequency_tab" }, { "id": "rs144081869", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144081869" }, { "id": "9506549", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9506549" } ], "glycoeffect": [], "start_pos": 686, "end_pos": 686, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "64750497", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G686", "disease": [ { "disease_id": "DOID:2746", "recommended_name": { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." }, "synonyms": [ { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease, type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "McArdle's disease", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "glycogen storage disease type V", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "myophosphorylase deficiency", "description": "" }, { "id": "DOID:2746", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2746", "name": "Glycogen storage disease 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "Mcardle disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "PYGM glycogen storage disease", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease caused by mutation in PYGM", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogen storage disease type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis due to muscle glycogen phosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type 5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "glycogenosis type V", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "myophosphorylase deficiency", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "GSD5", "description": "" }, { "id": "MONDO:0009293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009293", "name": "McArdle type glycogen storage disease", "description": "" }, { "id": "MIM:232600", "resource": "MIM", "url": "https://www.omim.org/entry/232600", "name": "Glycogen storage disease 5", "description": "Glycogen storage disease 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" }, { "id": "2746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2746" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11217-1" } ], "record_id": "pubmed.9506549", "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": "Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.", "journal": "Hum. Mutat.", "date": "1998", "authors": "Kubisch C, Wicklein E M, Jentsch T J", "reference": { "type": "PubMed", "id": "9633816", "url": "https://pubmed.ncbi.nlm.nih.gov/9633816" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11217-1", "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11217", "url": "https://www.uniprot.org/uniprotkb/P11217" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9633816", "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": "cDNA cloning of new protein tyrosine phosphatases in the human colon.", "journal": "Tumor Biol.", "date": "1992", "authors": "Arimura Y, Hinoda Y, Itoh F, Takekawa M, Tsujisaki M, Adachi M, Imai K, Yachi A", "reference": { "type": "PubMed", "id": "1626183", "url": "https://pubmed.ncbi.nlm.nih.gov/1626183" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26045-1", "protein_name": "Tyrosine-protein phosphatase non-receptor type 3", "gene_name": "PTPN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26045", "url": "https://www.uniprot.org/uniprotkb/P26045" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1626183", "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": "Isolation of a cDNA clone encoding a human protein-tyrosine phosphatase with homology to the cytoskeletal-associated proteins band 4.1, ezrin, and talin.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1991", "authors": "Yang Q, Tonks NK", "reference": { "type": "PubMed", "id": "1648725", "url": "https://pubmed.ncbi.nlm.nih.gov/1648725" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26045-1", "protein_name": "Tyrosine-protein phosphatase non-receptor type 3", "gene_name": "PTPN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26045", "url": "https://www.uniprot.org/uniprotkb/P26045" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1648725", "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 Protein Tyrosine Phosphatase H1 PTPH1 Supports Proliferation of Keratinocytes and is a Target of the Human Papillomavirus Type 8 E6 Oncogene.", "journal": "Cells", "date": "2019", "authors": "Taute S, Bohnke P, Sprissler J, Buchholz S, Hufbauer M, Akgul B, Steger G", "reference": { "type": "PubMed", "id": "30875834", "url": "https://pubmed.ncbi.nlm.nih.gov/30875834" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26045-1", "protein_name": "Tyrosine-protein phosphatase non-receptor type 3", "gene_name": "PTPN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26045", "url": "https://www.uniprot.org/uniprotkb/P26045" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 459, "end_pos": 459, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P26045", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26045" }, { "database": "PubMed", "id": "22730326", "url": "https://pubmed.ncbi.nlm.nih.gov/22730326" }, { "database": "PubMed", "id": "30875834", "url": "https://pubmed.ncbi.nlm.nih.gov/30875834" } ], "site_lbl": "Ser459", "uniprot_canonical_ac": "P26045-1" } ], "record_id": "pubmed.30875834", "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": "Identification and verification of PTPN3 as a novel biomarker in predicting cancer prognosis, immunity, and immunotherapeutic efficacy.", "journal": "European journal of medical research", "date": "2024-01-03", "authors": "Zhou Ziting, Lin Zhengjun, Wang Mingrui, Wang Lifan, Ji Yuqiao, Yang Jing, Yang Yaocheng, Zhu Guanghui, Liu Tang", "reference": { "type": "PubMed", "id": "38173048", "url": "https://pubmed.ncbi.nlm.nih.gov/38173048" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26045-1", "protein_name": "Tyrosine-protein phosphatase non-receptor type 3", "gene_name": "PTPN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26045", "url": "https://www.uniprot.org/uniprotkb/P26045" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38173048", "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": "Inhibition of PTPN3 Expressed in Activated Lymphocytes Enhances the Antitumor Effects of Anti-PD-1 Therapy in Head and Neck Cancer, Especially in Hypoxic Environments.", "journal": "Journal of immunotherapy (Hagerstown, Md. : 1997)", "date": "2024-04-01", "authors": "Masuda Shogo, Onishi Hideya, Iwamoto Naoya, Imaizumi Akira, Koga Satoko, Nagao Shinjiro, Sakanashi Keita, Itoyama Shinsaku, Fujimura Akiko, Komune Noritaka, Kogo Ryunosuke, Umebayashi Masayo, Morisaki Takashi, Nakagawa Takashi", "reference": { "type": "PubMed", "id": "38297883", "url": "https://pubmed.ncbi.nlm.nih.gov/38297883" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26045-1", "protein_name": "Tyrosine-protein phosphatase non-receptor type 3", "gene_name": "PTPN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26045", "url": "https://www.uniprot.org/uniprotkb/P26045" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38297883", "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 cytoskeletal-associated protein tyrosine phosphatase PTPH1 mRNA in human hepatocellular carcinoma.", "journal": "J. Gastroenterol.", "date": "1994", "authors": "Ikuta S, Itoh F, Hinoda Y, Toyota M, Makiguchi Y, Imai K, Yachi A", "reference": { "type": "PubMed", "id": "7874267", "url": "https://pubmed.ncbi.nlm.nih.gov/7874267" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26045-1", "protein_name": "Tyrosine-protein phosphatase non-receptor type 3", "gene_name": "PTPN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26045", "url": "https://www.uniprot.org/uniprotkb/P26045" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7874267", "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": "Serine phosphorylation-dependent association of the band 4.1-related protein-tyrosine phosphatase PTPH1 with 14-3-3beta protein.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Zhang SH, Kobayashi R, Graves PR, Piwnica-Worms H, Tonks NK", "reference": { "type": "PubMed", "id": "9341175", "url": "https://pubmed.ncbi.nlm.nih.gov/9341175" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26045-1", "protein_name": "Tyrosine-protein phosphatase non-receptor type 3", "gene_name": "PTPN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26045", "url": "https://www.uniprot.org/uniprotkb/P26045" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 359, "end_pos": 359, "kinase_uniprot_canonical_ac": "O43318-1", "kinase_gene_name": "MAP3K7", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P26045", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26045" }, { "database": "PubMed", "id": "9341175", "url": "https://pubmed.ncbi.nlm.nih.gov/9341175" } ], "site_lbl": "Ser359", "uniprot_canonical_ac": "P26045-1" } ], "record_id": "pubmed.9341175", "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": "Syntenin-syndecan binding requires syndecan-synteny and the co-operation of both PDZ domains of syntenin.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Grootjans J J, Reekmans G, Ceulemans H, David G", "reference": { "type": "PubMed", "id": "10770943", "url": "https://pubmed.ncbi.nlm.nih.gov/10770943" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10770943", "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": "Schwannomin isoform-1 interacts with syntenin via PDZ domains.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Jannatipour M, Dion P, Khan S, Jindal H, Fan X, Lagani\u00e8re J, Chishti A H, Rouleau G A", "reference": { "type": "PubMed", "id": "11432873", "url": "https://pubmed.ncbi.nlm.nih.gov/11432873" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11432873", "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": "Cytokine-specific transcriptional regulation through an IL-5Ralpha interacting protein.", "journal": "Science (New York, N.Y.)", "date": "2001-08-10", "authors": "Geijsen N, Uings I J, Pals C, Armstrong J, McKinnon M, Raaijmakers J A, Lammers J W, Koenderman L, Coffer P J", "reference": { "type": "PubMed", "id": "11498591", "url": "https://pubmed.ncbi.nlm.nih.gov/11498591" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11498591", "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": "PDZ tandem of human syntenin: crystal structure and functional properties.", "journal": "Structure", "date": "2003", "authors": "Kang Beom Sik, Cooper David R, Jelen Filip, Devedjiev Yancho, Derewenda Urszula, Dauter Zbigniew, Otlewski Jacek, Derewenda Zygmunt S", "reference": { "type": "PubMed", "id": "12679023", "url": "https://pubmed.ncbi.nlm.nih.gov/12679023" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12679023", "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 PDZ2 domain of syntenin at ultra-high resolution: bridging the gap between macromolecular and small molecule crystallography.", "journal": "J. Mol. Biol.", "date": "2004", "authors": "Kang Beom Sik, Devedjiev Yancho, Derewenda Urszula, Derewenda Zygmunt S", "reference": { "type": "PubMed", "id": "15081807", "url": "https://pubmed.ncbi.nlm.nih.gov/15081807" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15081807", "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": "Association of syntenin-1 with M-RIP polarizes Rac-1 activation during chemotaxis and immune interactions.", "journal": "Journal of cell science", "date": "2012", "authors": "Sala-Valdes M, Gordon-Alonso M, Tejera E, Ibanez A, Cabrero JR, Ursa A, Mittelbrunn M, Lozano F, Sanchez-Madrid F, Yanez-Mo M", "reference": { "type": "PubMed", "id": "22349701", "url": "https://pubmed.ncbi.nlm.nih.gov/22349701" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 4, "end_pos": 4, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00560", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00560" }, { "database": "PubMed", "id": "22349701", "url": "https://pubmed.ncbi.nlm.nih.gov/22349701" }, { "database": "PubMed", "id": "22535526", "url": "https://pubmed.ncbi.nlm.nih.gov/22535526" } ], "site_lbl": "Tyr4", "uniprot_canonical_ac": "O00560-1" } ], "record_id": "pubmed.22349701", "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": "The PDZ-adaptor protein syntenin-1 regulates HIV-1 entry.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Gordon-Alonso M, Rocha-Perugini V, Alvarez S, Moreno-Gonzalo O, Ursa A, Lopez-Martin S, Izquierdo-Useros N, Martinez-Picado J, Munoz-Fernandez MA, Yanez-Mo M, Sanchez-Madrid F", "reference": { "type": "PubMed", "id": "22535526", "url": "https://pubmed.ncbi.nlm.nih.gov/22535526" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 4, "end_pos": 4, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00560", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00560" }, { "database": "PubMed", "id": "22349701", "url": "https://pubmed.ncbi.nlm.nih.gov/22349701" }, { "database": "PubMed", "id": "22535526", "url": "https://pubmed.ncbi.nlm.nih.gov/22535526" } ], "site_lbl": "Tyr4", "uniprot_canonical_ac": "O00560-1" } ], "record_id": "pubmed.22535526", "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": "Targeting tumor invasion: the roles of MDA-9/Syntenin.", "journal": "Expert Opin. Ther. Targets", "date": "2015", "authors": "Kegelman Timothy P, Das Swadesh K, Emdad Luni, Hu Bin, Menezes Mitchell E, Bhoopathi Praveen, Wang Xiang-Yang, Pellecchia Maurizio, Sarkar Devanand, Fisher Paul B", "reference": { "type": "PubMed", "id": "25219541", "url": "https://pubmed.ncbi.nlm.nih.gov/25219541" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25219541", "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": "Syntenin and syndecan in the biogenesis of exosomes.", "journal": "Biol. Cell", "date": "2015", "authors": "Friand V\u00e9ronique, David Guido, Zimmermann Pascale", "reference": { "type": "PubMed", "id": "26032692", "url": "https://pubmed.ncbi.nlm.nih.gov/26032692" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26032692", "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": "MDA-9/Syntenin Control.", "journal": "Journal of cellular physiology", "date": "2016-03", "authors": "Philley Julie V, Kannan Anbarasu, Dasgupta Santanu", "reference": { "type": "PubMed", "id": "26291527", "url": "https://pubmed.ncbi.nlm.nih.gov/26291527" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26291527", "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": "Syntenin mediates SRC function in exosomal cell-to-cell communication.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2017", "authors": "Imjeti NS, Menck K, Egea-Jimenez AL, Lecointre C, Lembo F, Bouguenina H, Badache A, Ghossoub R, David G, Roche S, Zimmermann P", "reference": { "type": "PubMed", "id": "29109268", "url": "https://pubmed.ncbi.nlm.nih.gov/29109268" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 46, "end_pos": 46, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" }, { "database": "PubMed", "id": "24275569", "url": "https://pubmed.ncbi.nlm.nih.gov/24275569" }, { "database": "iPTMnet", "id": "O00560", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00560" }, { "database": "PubMed", "id": "18083107", "url": "https://pubmed.ncbi.nlm.nih.gov/18083107" }, { "database": "PubMed", "id": "29109268", "url": "https://pubmed.ncbi.nlm.nih.gov/29109268" } ], "site_lbl": "Tyr46", "uniprot_canonical_ac": "O00560-1" } ], "record_id": "pubmed.29109268", "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": "SDCBP/MDA-9/syntenin phosphorylation by AURKA promotes esophageal squamous cell carcinoma progression through the EGFR-PI3K-Akt signaling pathway.", "journal": "Oncogene", "date": "2020-07", "authors": "Du Ruijuan, Huang Chuntian, Chen Hanyong, Liu Kangdong, Xiang Pu, Yao Ning, Yang Lu, Zhou Liting, Wu Qiong, Zheng Yaqiu, Xin Mingxia, Dong Zigang, Li Xiang", "reference": { "type": "PubMed", "id": "32572158", "url": "https://pubmed.ncbi.nlm.nih.gov/32572158" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 131, "end_pos": 131, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00560", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00560" }, { "database": "PubMed", "id": "32572158", "url": "https://pubmed.ncbi.nlm.nih.gov/32572158" } ], "site_lbl": "Ser131", "uniprot_canonical_ac": "O00560-1" }, { "start_pos": 200, "end_pos": 200, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00560", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00560" }, { "database": "PubMed", "id": "32572158", "url": "https://pubmed.ncbi.nlm.nih.gov/32572158" } ], "site_lbl": "Thr200", "uniprot_canonical_ac": "O00560-1" } ], "record_id": "pubmed.32572158", "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": 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 Multifunctional Protein Syntenin-1: Regulator of Exosome Biogenesis, Cellular Function, and Tumor Progression.", "journal": "International journal of molecular sciences", "date": "2023-05-29", "authors": "Lee Kwang-Min, Seo Eun-Chan, Lee Jeong-Hyung, Kim Hyo-Jin, Hwangbo Cheol", "reference": { "type": "PubMed", "id": "37298370", "url": "https://pubmed.ncbi.nlm.nih.gov/37298370" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37298370", "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": "Anaplasma phagocytophilum Ats-1 enhances exosome secretion through Syntenin-1.", "journal": "BMC microbiology", "date": "2023-09-27", "authors": "Li Ruirui, Ma Zhongchen, Zheng Wei, Xiao Yangyang, Wang Zhen, Yi Jihai, Wang Yong, Chen Chuangfu", "reference": { "type": "PubMed", "id": "37759206", "url": "https://pubmed.ncbi.nlm.nih.gov/37759206" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37759206", "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": "SDCBP modulates tumor microenvironment, tumor progression and anti-PD1 efficacy in colorectal cancer.", "journal": "Cancer gene therapy", "date": "2024-05", "authors": "Yu Jiahua, Yu Shijun, Bai Jin, Zhu Zhe, Gao Yong, Li Yandong", "reference": { "type": "PubMed", "id": "38555398", "url": "https://pubmed.ncbi.nlm.nih.gov/38555398" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38555398", "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": "Syntenin, a PDZ protein that binds syndecan cytoplasmic domains.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1997", "authors": "Grootjans JJ, Zimmermann P, Reekmans G, Smets A, Degeest G, Durr J, David G", "reference": { "type": "PubMed", "id": "9391086", "url": "https://pubmed.ncbi.nlm.nih.gov/9391086" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9391086", "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": "Melanoma differentiation associated gene-9, mda-9, is a human gamma interferon responsive gene.", "journal": "Gene", "date": "1998", "authors": "Lin JJ, Jiang H, Fisher PB", "reference": { "type": "PubMed", "id": "9511750", "url": "https://pubmed.ncbi.nlm.nih.gov/9511750" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00560", "url": "https://www.uniprot.org/uniprotkb/O00560" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9511750", "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": "Protein kinase D regulates cell migration by direct phosphorylation of the cofilin phosphatase slingshot 1 like.", "journal": "Cancer research", "date": "2009", "authors": "Peterburs P, Heering J, Link G, Pfizenmaier K, Olayioye MA, Hausser A", "reference": { "type": "PubMed", "id": "19567672", "url": "https://pubmed.ncbi.nlm.nih.gov/19567672" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8WYL5-1", "protein_name": "Protein phosphatase Slingshot homolog 1", "gene_name": "SSH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WYL5", "url": "https://www.uniprot.org/uniprotkb/Q8WYL5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 937, "end_pos": 937, "kinase_uniprot_canonical_ac": "Q15139-1", "kinase_gene_name": "PRKD1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WYL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WYL5" }, { "database": "PubMed", "id": "21525957", "url": "https://pubmed.ncbi.nlm.nih.gov/21525957" }, { "database": "PubMed", "id": "19567672", "url": "https://pubmed.ncbi.nlm.nih.gov/19567672" } ], "site_lbl": "Ser937", "uniprot_canonical_ac": "Q8WYL5-1" }, { "start_pos": 937, "end_pos": 937, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WYL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WYL5" }, { "database": "PubMed", "id": "18669648", "url": "https://pubmed.ncbi.nlm.nih.gov/18669648" }, { "database": "PubMed", "id": "15159416", "url": "https://pubmed.ncbi.nlm.nih.gov/15159416" }, { "database": "PubMed", "id": "19329994", "url": "https://pubmed.ncbi.nlm.nih.gov/19329994" }, { "database": "PubMed", "id": "19567672", "url": "https://pubmed.ncbi.nlm.nih.gov/19567672" } ], "site_lbl": "Ser937", "uniprot_canonical_ac": "Q8WYL5-1" }, { "start_pos": 978, "end_pos": 978, "kinase_uniprot_canonical_ac": "Q15139-1", "kinase_gene_name": "PRKD1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WYL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WYL5" }, { "database": "PubMed", "id": "21525957", "url": "https://pubmed.ncbi.nlm.nih.gov/21525957" }, { "database": "PubMed", "id": "19567672", "url": "https://pubmed.ncbi.nlm.nih.gov/19567672" } ], "site_lbl": "Ser978", "uniprot_canonical_ac": "Q8WYL5-1" }, { "start_pos": 978, "end_pos": 978, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8WYL5", "url": "https://www.uniprot.org/uniprotkb/Q8WYL5" }, { "database": "PubMed", "id": "15159416", "url": "https://pubmed.ncbi.nlm.nih.gov/15159416" }, { "database": "iPTMnet", "id": "Q8WYL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WYL5" }, { "database": "PubMed", "id": "19329994", "url": "https://pubmed.ncbi.nlm.nih.gov/19329994" }, { "database": "PubMed", "id": "19567672", "url": "https://pubmed.ncbi.nlm.nih.gov/19567672" }, { "database": "PubMed", "id": "24840177", "url": "https://pubmed.ncbi.nlm.nih.gov/24840177" } ], "site_lbl": "Ser978", "uniprot_canonical_ac": "Q8WYL5-1" } ], "record_id": "pubmed.19567672", "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": 4 }, { "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": "Phosphorylation of Ser 402 impedes phosphatase activity of slingshot 1.", "journal": "EMBO reports", "date": "2011", "authors": "Barisic S, Nagel AC, Franz-Wachtel M, Macek B, Preiss A, Link G, Maier D, Hausser A", "reference": { "type": "PubMed", "id": "21525957", "url": "https://pubmed.ncbi.nlm.nih.gov/21525957" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8WYL5-1", "protein_name": "Protein phosphatase Slingshot homolog 1", "gene_name": "SSH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WYL5", "url": "https://www.uniprot.org/uniprotkb/Q8WYL5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 402, "end_pos": 402, "kinase_uniprot_canonical_ac": "Q15139-1", "kinase_gene_name": "PRKD1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WYL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WYL5" }, { "database": "PubMed", "id": "21525957", "url": "https://pubmed.ncbi.nlm.nih.gov/21525957" } ], "site_lbl": "Ser402", "uniprot_canonical_ac": "Q8WYL5-1" }, { "start_pos": 937, "end_pos": 937, "kinase_uniprot_canonical_ac": "Q15139-1", "kinase_gene_name": "PRKD1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WYL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WYL5" }, { "database": "PubMed", "id": "21525957", "url": "https://pubmed.ncbi.nlm.nih.gov/21525957" }, { "database": "PubMed", "id": "19567672", "url": "https://pubmed.ncbi.nlm.nih.gov/19567672" } ], "site_lbl": "Ser937", "uniprot_canonical_ac": "Q8WYL5-1" }, { "start_pos": 937, "end_pos": 937, "kinase_uniprot_canonical_ac": "Q9BZL6-1", "kinase_gene_name": "PRKD2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WYL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WYL5" }, { "database": "PubMed", "id": "21525957", "url": "https://pubmed.ncbi.nlm.nih.gov/21525957" } ], "site_lbl": "Ser937", "uniprot_canonical_ac": "Q8WYL5-1" }, { "start_pos": 978, "end_pos": 978, "kinase_uniprot_canonical_ac": "Q15139-1", "kinase_gene_name": "PRKD1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WYL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WYL5" }, { "database": "PubMed", "id": "21525957", "url": "https://pubmed.ncbi.nlm.nih.gov/21525957" }, { "database": "PubMed", "id": "19567672", "url": "https://pubmed.ncbi.nlm.nih.gov/19567672" } ], "site_lbl": "Ser978", "uniprot_canonical_ac": "Q8WYL5-1" } ], "record_id": "pubmed.21525957", "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": 4 }, { "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": "Insulin receptor substrate-4 binds to Slingshot-1 phosphatase and promotes cofilin dephosphorylation.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Homma Y, Kanno S, Sasaki K, Nishita M, Yasui A, Asano T, Ohashi K, Mizuno K", "reference": { "type": "PubMed", "id": "25100728", "url": "https://pubmed.ncbi.nlm.nih.gov/25100728" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8WYL5-1", "protein_name": "Protein phosphatase Slingshot homolog 1", "gene_name": "SSH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WYL5", "url": "https://www.uniprot.org/uniprotkb/Q8WYL5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 826, "end_pos": 826, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8WYL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8WYL5" }, { "database": "PubMed", "id": "25100728", "url": "https://pubmed.ncbi.nlm.nih.gov/25100728" } ], "site_lbl": "Thr826", "uniprot_canonical_ac": "Q8WYL5-1" } ], "record_id": "pubmed.25100728", "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": "Slingshot homolog-1 amplifies mitochondrial abnormalities by distinctly impairing health and clearance of mitochondria.", "journal": "Human molecular genetics", "date": "2023-01-13", "authors": "Cazzaro Sara, Zhao Xingyu, Zhao Victoria K, Kim Yenna K, Woo Jung-A A", "reference": { "type": "PubMed", "id": "36637427", "url": "https://pubmed.ncbi.nlm.nih.gov/36637427" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8WYL5-1", "protein_name": "Protein phosphatase Slingshot homolog 1", "gene_name": "SSH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WYL5", "url": "https://www.uniprot.org/uniprotkb/Q8WYL5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36637427", "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": "SSH1 promotes progression of intrahepatic cholangiocarcinoma via p38 MAPK-CXCL8 axis.", "journal": "Carcinogenesis", "date": "2023-03-01", "authors": "Chen Fanghua, Aye Ling, Yu Lei, Liu Longzi, Liu Yuming, Lin Youpei, Gao Dongmei, Gao Qiang, Zhang Shu", "reference": { "type": "PubMed", "id": "36857607", "url": "https://pubmed.ncbi.nlm.nih.gov/36857607" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8WYL5-1", "protein_name": "Protein phosphatase Slingshot homolog 1", "gene_name": "SSH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WYL5", "url": "https://www.uniprot.org/uniprotkb/Q8WYL5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36857607", "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": "Slingshot homolog-1-mediated Nrf2 sequestration tips the balance from neuroprotection to neurodegeneration in Alzheimer's disease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2023-07-25", "authors": "Cazzaro Sara, Woo Jung-A A, Wang Xinming, Liu Tian, Rego Shanon, Kee Teresa R, Koh Yeojung, V\u00e1zquez-Rosa Edwin, Pieper Andrew A, Kang David E", "reference": { "type": "PubMed", "id": "37463212", "url": "https://pubmed.ncbi.nlm.nih.gov/37463212" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8WYL5-1", "protein_name": "Protein phosphatase Slingshot homolog 1", "gene_name": "SSH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8WYL5", "url": "https://www.uniprot.org/uniprotkb/Q8WYL5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37463212", "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": "VSGP/F-spondin: a new ovarian cancer marker.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2005", "authors": "Pyle-Chenault RA, Stolk JA, Molesh DA, Boyle-Harlan D, McNeill PD, Repasky EA, Jiang Z, Fanger GR, Xu J", "reference": { "type": "PubMed", "id": "16103746", "url": "https://pubmed.ncbi.nlm.nih.gov/16103746" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HCB6-1", "protein_name": "Spondin-1", "gene_name": "SPON1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HCB6", "url": "https://www.uniprot.org/uniprotkb/Q9HCB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16103746", "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 of the heparin-binding reelin-N domain of f-spondin.", "journal": "J. Mol. Biol.", "date": "2008", "authors": "Tan Kemin, Duquette Mark, Liu Jin-huan, Lawler Jack, Wang Jia-huai", "reference": { "type": "PubMed", "id": "18602404", "url": "https://pubmed.ncbi.nlm.nih.gov/18602404" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HCB6-1", "protein_name": "Spondin-1", "gene_name": "SPON1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HCB6", "url": "https://www.uniprot.org/uniprotkb/Q9HCB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18602404", "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": "Structure of the F-spondin reeler domain reveals a unique beta-sandwich fold with a deformable disulfide-bonded loop.", "journal": "Acta Crystallogr. D", "date": "2008", "authors": "Nagae Masamichi, Nishikawa Ken, Yasui Norihisa, Yamasaki Motoo, Nogi Terukazu, Takagi Junichi", "reference": { "type": "PubMed", "id": "19020352", "url": "https://pubmed.ncbi.nlm.nih.gov/19020352" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HCB6-1", "protein_name": "Spondin-1", "gene_name": "SPON1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HCB6", "url": "https://www.uniprot.org/uniprotkb/Q9HCB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19020352", "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 structure of the Ca(2)+-binding, glycosylated F-spondin domain of F-spondin - A C2-domain variant in an extracellular matrix protein.", "journal": "BMC structural biology", "date": "2011", "authors": "Tan K, Lawler J", "reference": { "type": "PubMed", "id": "21569239", "url": "https://pubmed.ncbi.nlm.nih.gov/21569239" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HCB6-1", "protein_name": "Spondin-1", "gene_name": "SPON1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HCB6", "url": "https://www.uniprot.org/uniprotkb/Q9HCB6" } ], "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 }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 214, "start_aa": "Asn", "end_pos": 214, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn214", "evidence": [ { "id": "Q9HCB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9HCB6#ptm_processing" }, { "id": "21569239", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21569239" }, { "id": "3Q13", "database": "PDB", "url": "https://www.rcsb.org/sequence/3Q13" }, { "id": "24190977", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23090970" } ], "filter_code": "001000000000000000000.00010000000000.00.01001", "uniprot_canonical_ac": "Q9HCB6-1" } ], "record_id": "pubmed.21569239", "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", "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", "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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_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": "Prognostic and Diagnostic Values of miR-506 and SPON 1 in Colorectal Cancer with Clinicopathological Considerations.", "journal": "Journal of gastrointestinal cancer", "date": "2021", "authors": "Tamjidifar R, Akbari M, Tarzi S, Sadeghzadeh M, Abolghasemi M, Poursaei E, Shomali N, Mahdavi F", "reference": { "type": "PubMed", "id": "31927744", "url": "https://pubmed.ncbi.nlm.nih.gov/31927744" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HCB6-1", "protein_name": "Spondin-1", "gene_name": "SPON1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HCB6", "url": "https://www.uniprot.org/uniprotkb/Q9HCB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31927744", "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": "Evaluation of relationship between SPON1 gene and genetic susceptibility of postmenopausal osteoporosis.", "journal": "Artificial cells, nanomedicine, and biotechnology", "date": "2020", "authors": "Ma W, Chen K, Xiao W, Tang H, Wang S, Wang K", "reference": { "type": "PubMed", "id": "32484721", "url": "https://pubmed.ncbi.nlm.nih.gov/32484721" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HCB6-1", "protein_name": "Spondin-1", "gene_name": "SPON1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HCB6", "url": "https://www.uniprot.org/uniprotkb/Q9HCB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32484721", "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": "Increased SPON1 promotes pancreatic ductal adenocarcinoma progression by enhancing IL-6 trans-signalling.", "journal": "Cell proliferation", "date": "2022", "authors": "Huo Y, Yang J, Zheng J, Xu D, Yang M, Tao L, Yao H, Fu X, Yang J, Liu D, Hua R, Zhang J, Sun Y, Hu L, Liu W", "reference": { "type": "PubMed", "id": "35487760", "url": "https://pubmed.ncbi.nlm.nih.gov/35487760" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HCB6-1", "protein_name": "Spondin-1", "gene_name": "SPON1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HCB6", "url": "https://www.uniprot.org/uniprotkb/Q9HCB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35487760", "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": "SPON1 is an independent prognostic biomarker for ovarian cancer.", "journal": "Journal of ovarian research", "date": "2023-05-13", "authors": "Miyakawa Ryoya, Kobayashi Makoto, Sugimoto Kotaro, Endo Yuta, Kojima Manabu, Kobayashi Yasuyuki, Furukawa Shigenori, Honda Tsuyoshi, Watanabe Takafumi, Asano Shigeyuki, Soeda Shu, Hashimoto Yuko, Fujimori Keiya, Chiba Hideki", "reference": { "type": "PubMed", "id": "37179355", "url": "https://pubmed.ncbi.nlm.nih.gov/37179355" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HCB6-1", "protein_name": "Spondin-1", "gene_name": "SPON1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HCB6", "url": "https://www.uniprot.org/uniprotkb/Q9HCB6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37179355", "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": "Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.", "journal": "Nat. Genet.", "date": "2000", "authors": "Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO", "reference": { "type": "PubMed", "id": "10700182", "url": "https://pubmed.ncbi.nlm.nih.gov/10700182" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01974-1", "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10700182", "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": "Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.", "journal": "Nature genetics", "date": "2000", "authors": "Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tuysuz B, Murday VA, Patton MA, Wilkie AO, Jeffery S", "reference": { "type": "PubMed", "id": "10932186", "url": "https://pubmed.ncbi.nlm.nih.gov/10932186" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01974-1", "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10932186", "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": "Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.", "journal": "Nature genetics", "date": "2000", "authors": "van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG", "reference": { "type": "PubMed", "id": "10932187", "url": "https://pubmed.ncbi.nlm.nih.gov/10932187" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01974-1", "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10932187", "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": "Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.", "journal": "Am. J. Hum. Genet.", "date": "2000", "authors": "Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Komec R, Mundlos S", "reference": { "type": "PubMed", "id": "10986040", "url": "https://pubmed.ncbi.nlm.nih.gov/10986040" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01974-1", "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10986040", "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": "O-sulfonation of serine and threonine: mass spectrometric detection and characterization of a new posttranslational modification in diverse proteins throughout the eukaryotes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2004", "authors": "Medzihradszky KF, Darula Z, Perlson E, Fainzilber M, Chalkley RJ, Ball H, Greenbaum D, Bogyo M, Tyson DR, Bradshaw RA, Burlingame AL", "reference": { "type": "PubMed", "id": "14752058", "url": "https://pubmed.ncbi.nlm.nih.gov/14752058" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01974-1", "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14752058", "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 deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src.", "journal": "PloS one", "date": "2008", "authors": "Akbarzadeh S, Wheldon LM, Sweet SM, Talma S, Mardakheh FK, Heath JK", "reference": { "type": "PubMed", "id": "18365018", "url": "https://pubmed.ncbi.nlm.nih.gov/18365018" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01974-1", "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 645, "end_pos": 645, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q01974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01974" }, { "database": "PubMed", "id": "18365018", "url": "https://pubmed.ncbi.nlm.nih.gov/18365018" } ], "site_lbl": "Tyr645", "uniprot_canonical_ac": "Q01974-1" }, { "start_pos": 646, "end_pos": 646, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" }, { "database": "iPTMnet", "id": "Q01974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01974" }, { "database": "PubMed", "id": "18365018", "url": "https://pubmed.ncbi.nlm.nih.gov/18365018" } ], "site_lbl": "Tyr646", "uniprot_canonical_ac": "Q01974-1" }, { "start_pos": 873, "end_pos": 873, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q01974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01974" }, { "database": "PubMed", "id": "18365018", "url": "https://pubmed.ncbi.nlm.nih.gov/18365018" } ], "site_lbl": "Tyr873", "uniprot_canonical_ac": "Q01974-1" } ], "record_id": "pubmed.18365018", "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": 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": "Canonical and noncanonical Wnts use a common mechanism to activate completely unrelated coreceptors.", "journal": "Genes & development", "date": "2010", "authors": "Grumolato L, Liu G, Mong P, Mudbhary R, Biswas R, Arroyave R, Vijayakumar S, Economides AN, Aaronson SA", "reference": { "type": "PubMed", "id": "21078818", "url": "https://pubmed.ncbi.nlm.nih.gov/21078818" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01974-1", "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 864, "end_pos": 864, "kinase_uniprot_canonical_ac": "P49841-1", "kinase_gene_name": "GSK3B", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q01974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01974" }, { "database": "PubMed", "id": "21078818", "url": "https://pubmed.ncbi.nlm.nih.gov/21078818" } ], "site_lbl": "Ser864", "uniprot_canonical_ac": "Q01974-1" }, { "start_pos": 864, "end_pos": 864, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q01974", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01974" }, { "database": "PubMed", "id": "21078818", "url": "https://pubmed.ncbi.nlm.nih.gov/21078818" } ], "site_lbl": "Ser864", "uniprot_canonical_ac": "Q01974-1" } ], "record_id": "pubmed.21078818", "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": 2 }, { "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": "miR-124-3p and miR-194-5p regulation of the PI3K/AKT pathway via ROR2 in medulloblastoma progression.", "journal": "Cancer gene therapy", "date": "2024-06", "authors": "Wang Chen, Fu Runxi, Wang Yunkun, Wei Jia, Yu Ying, Hu Liuhua, Zhang Chenran", "reference": { "type": "PubMed", "id": "38632356", "url": "https://pubmed.ncbi.nlm.nih.gov/38632356" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01974-1", "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38632356", "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": "[Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene].", "journal": "Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics", "date": "2024-05-10", "authors": "Ren Huiying, Zhao Wei, Jiang Nan, Li Shuo", "reference": { "type": "PubMed", "id": "38684301", "url": "https://pubmed.ncbi.nlm.nih.gov/38684301" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01974-1", "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38684301", "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": "Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling.", "journal": "eLife", "date": "2024-05-23", "authors": "Griffiths Samuel C, Tan Jia, Wagner Armin, Blazer Levi L, Adams Jarrett J, Srinivasan Srisathya, Moghisaei Shayan, Sidhu Sachdev S, Siebold Christian, Ho Hsin-Yi Henry", "reference": { "type": "PubMed", "id": "38780011", "url": "https://pubmed.ncbi.nlm.nih.gov/38780011" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01974-1", "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38780011", "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": "Ror2 signaling regulated by differential Wnt proteins determines pathological fate of muscle mesenchymal progenitors.", "journal": "Cell death & disease", "date": "2024-10-29", "authors": "Kamizaki Koki, Katsukawa Mitsuko, Yamamoto Ayano, Fukada So-Ichiro, Uezumi Akiyoshi, Endo Mitsuharu, Minami Yasuhiro", "reference": { "type": "PubMed", "id": "39468010", "url": "https://pubmed.ncbi.nlm.nih.gov/39468010" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01974-1", "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01974", "url": "https://www.uniprot.org/uniprotkb/Q01974" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.39468010", "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": "Nuclear speckles and nucleoli targeting by PIP2-PDZ domain interactions.", "journal": "The EMBO journal", "date": "2005", "authors": "Mortier E, Wuytens G, Leenaerts I, Hannes F, Heung MY, Degeest G, David G, Zimmermann P", "reference": { "type": "PubMed", "id": "15961997", "url": "https://pubmed.ncbi.nlm.nih.gov/15961997" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H190-1", "protein_name": "Syntenin-2", "gene_name": "SDCBP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H190", "url": "https://www.uniprot.org/uniprotkb/Q9H190" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 113, "end_pos": 113, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes phosphatidylinositol 4,5-bisphosphate binding and targeting to plasma membrane, speckles and nucleoli; when associated with A-167; A-197 and A-244. Reduces phosphatidylinositol 4,5-bisphosphate binding and does not change subcellular localization; when associated with A-167.", "evidence": [ { "database": "UniProtKB", "id": "Q9H190", "url": "https://www.uniprot.org/uniprotkb/Q9H190" }, { "database": "PubMed", "id": "15961997", "url": "https://pubmed.ncbi.nlm.nih.gov/15961997" } ], "uniprot_canonical_ac": "Q9H190-1" }, { "start_pos": 167, "end_pos": 167, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes phosphatidylinositol 4,5-bisphosphate binding and targeting to plasma membrane, speckles and nucleoli; when associated with A-113; A-197 and A-244. Reduces phosphatidylinositol 4,5-bisphosphate binding and does not change subcellular localization; when associated with A-113.", "evidence": [ { "database": "UniProtKB", "id": "Q9H190", "url": "https://www.uniprot.org/uniprotkb/Q9H190" }, { "database": "PubMed", "id": "15961997", "url": "https://pubmed.ncbi.nlm.nih.gov/15961997" } ], "uniprot_canonical_ac": "Q9H190-1" }, { "start_pos": 197, "end_pos": 197, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes phosphatidylinositol 4,5-bisphosphate binding and targeting to plasma membrane, speckles and nucleoli; when associated with A-113; A-167 and A-244. Reduces phosphatidylinositol 4,5-bisphosphate binding and does not change subcellular localization; when associated with A-244.", "evidence": [ { "database": "UniProtKB", "id": "Q9H190", "url": "https://www.uniprot.org/uniprotkb/Q9H190" }, { "database": "PubMed", "id": "15961997", "url": "https://pubmed.ncbi.nlm.nih.gov/15961997" } ], "uniprot_canonical_ac": "Q9H190-1" }, { "start_pos": 244, "end_pos": 244, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes phosphatidylinositol 4,5-bisphosphate binding and targeting to plasma membrane, speckles and nucleoli; when associated with A-113; A-167 and A-197. Reduces phosphatidylinositol 4,5-bisphosphate binding and does not change subcellular localization; when associated with A-197.", "evidence": [ { "database": "UniProtKB", "id": "Q9H190", "url": "https://www.uniprot.org/uniprotkb/Q9H190" }, { "database": "PubMed", "id": "15961997", "url": "https://pubmed.ncbi.nlm.nih.gov/15961997" } ], "uniprot_canonical_ac": "Q9H190-1" } ], "record_id": "pubmed.15961997", "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": "Human papillomavirus type 8 E6 oncoprotein inhibits transcription of the PDZ protein syntenin-2.", "journal": "J. Virol.", "date": "2012", "authors": "Lazic D, Hufbauer M, Zigrino P, Buchholz S, Kazem S, Feltkamp MC, Mauch C, Steger G, Pfister H, Akgul B", "reference": { "type": "PubMed", "id": "22623796", "url": "https://pubmed.ncbi.nlm.nih.gov/22623796" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H190-1", "protein_name": "Syntenin-2", "gene_name": "SDCBP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H190", "url": "https://www.uniprot.org/uniprotkb/Q9H190" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22623796", "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 characterization of the nuclear dynamics of syntenin-2, a PIP2 binding PDZ protein.", "journal": "Cytometry A", "date": "2013", "authors": "Geeraerts Annelies, Hsiu-Fang Fan, Zimmermann Pascale, Engelborghs Yves", "reference": { "type": "PubMed", "id": "23300061", "url": "https://pubmed.ncbi.nlm.nih.gov/23300061" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H190-1", "protein_name": "Syntenin-2", "gene_name": "SDCBP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H190", "url": "https://www.uniprot.org/uniprotkb/Q9H190" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23300061", "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": "Targeting SDCBP2 in acute myeloid leukemia.", "journal": "Cellular signalling", "date": "2023-12", "authors": "Du Yan, Li Lan-Lan, Chen Feihu, Du Yan", "reference": { "type": "PubMed", "id": "37714445", "url": "https://pubmed.ncbi.nlm.nih.gov/37714445" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H190-1", "protein_name": "Syntenin-2", "gene_name": "SDCBP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H190", "url": "https://www.uniprot.org/uniprotkb/Q9H190" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37714445", "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": "Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.", "journal": "Human molecular genetics", "date": "2005", "authors": "zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nurnberg P, Janka G, Hennies HC", "reference": { "type": "PubMed", "id": "15703195", "url": "https://pubmed.ncbi.nlm.nih.gov/15703195" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75558-1", "protein_name": "Syntaxin-11", "gene_name": "STX11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75558", "url": "https://www.uniprot.org/uniprotkb/O75558" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15703195", "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": "Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.", "journal": "Journal of medical genetics", "date": "2006-04", "authors": "Rudd E, G\u00f6ransdotter Ericson K, Zheng C, Uysal Z, Ozkan A, G\u00fcrgey A, Fadeel B, Nordenskj\u00f6ld M, Henter J-I", "reference": { "type": "PubMed", "id": "16582076", "url": "https://pubmed.ncbi.nlm.nih.gov/16582076" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75558-1", "protein_name": "Syntaxin-11", "gene_name": "STX11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75558", "url": "https://www.uniprot.org/uniprotkb/O75558" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16582076", "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": "Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.", "journal": "Blood", "date": "2007-09-15", "authors": "Bryceson Yenan T, Rudd Eva, Zheng Chengyun, Edner Josefine, Ma Daoxin, Wood Stephanie M, Bechensteen Anne Grete, Boelens Jaap J, Celkan Tiraje, Farah Roula A, Hultenby Kjell, Winiarski Jacek, Roche Paul A, Nordenskj\u00f6ld Magnus, Henter Jan-Inge, Long Eric O, Ljunggren Hans-Gustaf", "reference": { "type": "PubMed", "id": "17525286", "url": "https://pubmed.ncbi.nlm.nih.gov/17525286" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75558-1", "protein_name": "Syntaxin-11", "gene_name": "STX11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75558", "url": "https://www.uniprot.org/uniprotkb/O75558" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17525286", "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": "Syntaxin11 serves as a t-SNARE for the fusion of lytic granules in human cytotoxic T lymphocytes.", "journal": "European journal of immunology", "date": "2014-02", "authors": "Halimani Mahantappa, Pattu Varsha, Marshall Misty R, Chang Hsin Fang, Matti Ulf, Jung Martin, Becherer Ute, Krause Elmar, Hoth Markus, Schwarz Eva C, Rettig Jens", "reference": { "type": "PubMed", "id": "24227526", "url": "https://pubmed.ncbi.nlm.nih.gov/24227526" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75558-1", "protein_name": "Syntaxin-11", "gene_name": "STX11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75558", "url": "https://www.uniprot.org/uniprotkb/O75558" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24227526", "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 N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.", "journal": "Frontiers in immunology", "date": "2014-01-14", "authors": "M\u00fcller Martha-Lena, Chiang Samuel C C, Meeths Marie, Tesi Bianca, Entesarian Miriam, Nilsson Daniel, Wood Stephanie M, Nordenskj\u00f6ld Magnus, Henter Jan-Inge, Naqvi Ahmed, Bryceson Yenan T", "reference": { "type": "PubMed", "id": "24459464", "url": "https://pubmed.ncbi.nlm.nih.gov/24459464" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75558-1", "protein_name": "Syntaxin-11", "gene_name": "STX11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75558", "url": "https://www.uniprot.org/uniprotkb/O75558" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24459464", "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": "Syntaxin 11 Contributes to the Interferon-Inducible Restriction of Coxiella burnetii Intracellular Infection.", "journal": "mBio", "date": "2023-02-28", "authors": "Ganesan Sandhya, Alvarez Natalie N, Steiner Samuel, Fowler Karen M, Corona Abigail K, Roy Craig R", "reference": { "type": "PubMed", "id": "36728431", "url": "https://pubmed.ncbi.nlm.nih.gov/36728431" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75558-1", "protein_name": "Syntaxin-11", "gene_name": "STX11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75558", "url": "https://www.uniprot.org/uniprotkb/O75558" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36728431", "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": "Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1998", "authors": "Tang BL, Low DY, Hong W", "reference": { "type": "PubMed", "id": "9571206", "url": "https://pubmed.ncbi.nlm.nih.gov/9571206" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75558-1", "protein_name": "Syntaxin-11", "gene_name": "STX11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75558", "url": "https://www.uniprot.org/uniprotkb/O75558" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9571206", "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 interleukin-25 gene located in the inflammatory bowel disease (IBD) 4 region: no association with inflammatory bowel disease.", "journal": "European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics", "date": "2003", "authors": "Buning C, Genschel J, Weltrich R, Lochs H, Schmidt H", "reference": { "type": "PubMed", "id": "14641539", "url": "https://pubmed.ncbi.nlm.nih.gov/14641539" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q969H8-1", "protein_name": "Myeloid-derived growth factor", "gene_name": "MYDGF", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969H8", "url": "https://www.uniprot.org/uniprotkb/Q969H8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14641539", "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 identification and characterization of a novel protein, c19orf10, in the synovium.", "journal": "Arthritis Res. Ther.", "date": "2007", "authors": "Weiler T, Du Q, Krokhin O, Ens W, Standing K, El-Gabalawy H, Wilkins JA", "reference": { "type": "PubMed", "id": "17362502", "url": "https://pubmed.ncbi.nlm.nih.gov/17362502" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q969H8-1", "protein_name": "Myeloid-derived growth factor", "gene_name": "MYDGF", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969H8", "url": "https://www.uniprot.org/uniprotkb/Q969H8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 119, "end_pos": 119, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q969H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969H8" }, { "database": "PubMed", "id": "17362502", "url": "https://pubmed.ncbi.nlm.nih.gov/17362502" } ], "site_lbl": "Tyr119", "uniprot_canonical_ac": "Q969H8-1" }, { "start_pos": 132, "end_pos": 132, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q969H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969H8" }, { "database": "PubMed", "id": "17362502", "url": "https://pubmed.ncbi.nlm.nih.gov/17362502" } ], "site_lbl": "Ser132", "uniprot_canonical_ac": "Q969H8-1" }, { "start_pos": 169, "end_pos": 169, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q969H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969H8" }, { "database": "PubMed", "id": "17362502", "url": "https://pubmed.ncbi.nlm.nih.gov/17362502" } ], "site_lbl": "Ser169", "uniprot_canonical_ac": "Q969H8-1" }, { "start_pos": 33, "end_pos": 33, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q969H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969H8" }, { "database": "PubMed", "id": "17362502", "url": "https://pubmed.ncbi.nlm.nih.gov/17362502" } ], "site_lbl": "Ser33", "uniprot_canonical_ac": "Q969H8-1" }, { "start_pos": 36, "end_pos": 36, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q969H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969H8" }, { "database": "PubMed", "id": "17362502", "url": "https://pubmed.ncbi.nlm.nih.gov/17362502" } ], "site_lbl": "Thr36", "uniprot_canonical_ac": "Q969H8-1" }, { "start_pos": 61, "end_pos": 61, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q969H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969H8" }, { "database": "PubMed", "id": "17362502", "url": "https://pubmed.ncbi.nlm.nih.gov/17362502" } ], "site_lbl": "Tyr61", "uniprot_canonical_ac": "Q969H8-1" }, { "start_pos": 67, "end_pos": 67, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q969H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969H8" }, { "database": "PubMed", "id": "17362502", "url": "https://pubmed.ncbi.nlm.nih.gov/17362502" } ], "site_lbl": "Tyr67", "uniprot_canonical_ac": "Q969H8-1" }, { "start_pos": 84, "end_pos": 84, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q969H8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969H8" }, { "database": "PubMed", "id": "17362502", "url": "https://pubmed.ncbi.nlm.nih.gov/17362502" } ], "site_lbl": "Ser84", "uniprot_canonical_ac": "Q969H8-1" } ], "record_id": "pubmed.17362502", "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": 8 }, { "field": "total_sites", "count": 8 } ], "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": "Identification of a secretory protein c19orf10 activated in hepatocellular carcinoma.", "journal": "International journal of cancer", "date": "2011", "authors": "Sunagozaka H, Honda M, Yamashita T, Nishino R, Takatori H, Arai K, Yamashita T, Sakai Y, Kaneko S", "reference": { "type": "PubMed", "id": "21128247", "url": "https://pubmed.ncbi.nlm.nih.gov/21128247" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q969H8-1", "protein_name": "Myeloid-derived growth factor", "gene_name": "MYDGF", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969H8", "url": "https://www.uniprot.org/uniprotkb/Q969H8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21128247", "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": [] } ] } ]