[ { "title": "A human poly(ADP-ribose) polymerase gene family (ADPRTL): cDNA cloning of two novel poly(ADP-ribose) polymerase homologues.", "journal": "Genomics", "date": "1999", "authors": "Johansson M", "reference": { "type": "PubMed", "id": "10329013", "url": "https://pubmed.ncbi.nlm.nih.gov/10329013" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6F1-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP3", "gene_name": "PARP3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10329013", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Completion of base excision repair by mammalian DNA ligases.", "journal": "Progress in nucleic acid research and molecular biology", "date": "2001", "authors": "Tomkinson AE, Chen L, Dong Z, Leppard JB, Levin DS, Mackey ZB, Motycka TA", "reference": { "type": "PubMed", "id": "11554294", "url": "https://pubmed.ncbi.nlm.nih.gov/11554294" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11554294", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Poly(ADP-ribose) polymerase-1 inhibits strand-displacement synthesis of DNA catalyzed by DNA polymerase beta.", "journal": "Biochemistry. Biokhimiia", "date": "2004", "authors": "Sukhanova MV, Khodyreva SN, Lavrik OI", "reference": { "type": "PubMed", "id": "15193131", "url": "https://pubmed.ncbi.nlm.nih.gov/15193131" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15193131", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "NAD+-dependent modulation of chromatin structure and transcription by nucleosome binding properties of PARP-1.", "journal": "Cell", "date": "2004", "authors": "Kim MY, Mauro S, Gevry N, Lis JT, Kraus WL", "reference": { "type": "PubMed", "id": "15607977", "url": "https://pubmed.ncbi.nlm.nih.gov/15607977" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15607977", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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 base excision repair enzymes apurinic/apyrimidinic endonuclease1 (APE1), DNA polymerase beta and poly(ADP-ribose) polymerase 1: interplay between strand-displacement DNA synthesis and proofreading exonuclease activity.", "journal": "Nucleic acids research", "date": "2005", "authors": "Sukhanova MV, Khodyreva SN, Lebedeva NA, Prasad R, Wilson SH, Lavrik OI", "reference": { "type": "PubMed", "id": "15731342", "url": "https://pubmed.ncbi.nlm.nih.gov/15731342" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15731342", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification and characterization of a mammalian 39-kDa poly(ADP-ribose) glycohydrolase.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Oka S, Kato J, Moss J", "reference": { "type": "PubMed", "id": "16278211", "url": "https://pubmed.ncbi.nlm.nih.gov/16278211" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8CG72-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "Adprs", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 238, "end_pos": 239, "sequence_org": "EE", "sequence_mut": "QQ", "comment": "Slight reduction in activity toward poly(ADP-ribose). Does not affect ability to degrade O-acetyl-ADP-D-ribose.", "evidence": [ { "database": "UniProtKB", "id": "Q9NX46", "url": "https://www.uniprot.org/uniprotkb/Q9NX46" }, { "database": "PubMed", "id": "16278211", "url": "https://pubmed.ncbi.nlm.nih.gov/16278211" }, { "database": "PubMed", "id": "17075046", "url": "https://pubmed.ncbi.nlm.nih.gov/17075046" } ], "uniprot_canonical_ac": "Q9NX46-1" }, { "start_pos": 261, "end_pos": 262, "sequence_org": "EE", "sequence_mut": "QQ", "comment": "Slight reduction in activity toward poly(ADP-ribose). Does not affect ability to degrade O-acetyl-ADP-D-ribose.", "evidence": [ { "database": "UniProtKB", "id": "Q9NX46", "url": "https://www.uniprot.org/uniprotkb/Q9NX46" }, { "database": "PubMed", "id": "16278211", "url": "https://pubmed.ncbi.nlm.nih.gov/16278211" }, { "database": "PubMed", "id": "17075046", "url": "https://pubmed.ncbi.nlm.nih.gov/17075046" } ], "uniprot_canonical_ac": "Q9NX46-1" }, { "start_pos": 77, "end_pos": 78, "sequence_org": "DD", "sequence_mut": "NN", "comment": "Complete loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NX46", "url": "https://www.uniprot.org/uniprotkb/Q9NX46" }, { "database": "PubMed", "id": "16278211", "url": "https://pubmed.ncbi.nlm.nih.gov/16278211" }, { "database": "PubMed", "id": "28650317", "url": "https://pubmed.ncbi.nlm.nih.gov/28650317" }, { "database": "PubMed", "id": "17075046", "url": "https://pubmed.ncbi.nlm.nih.gov/17075046" } ], "uniprot_canonical_ac": "Q9NX46-1" } ], "record_id": "pubmed.16278211", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Poly(ADP-ribose) polymerase 1 accelerates single-strand break repair in concert with poly(ADP-ribose) glycohydrolase.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Fisher AE, Hochegger H, Takeda S, Caldecott KW", "reference": { "type": "PubMed", "id": "17548475", "url": "https://pubmed.ncbi.nlm.nih.gov/17548475" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17548475", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Functional localization of two poly(ADP-ribose)-degrading enzymes to the mitochondrial matrix.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Niere M, Kernstock S, Koch-Nolte F, Ziegler M", "reference": { "type": "PubMed", "id": "17991898", "url": "https://pubmed.ncbi.nlm.nih.gov/17991898" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17991898", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Long patch base excision repair proceeds via coordinated stimulation of the multienzyme DNA repair complex.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Balakrishnan L, Brandt PD, Lindsey-Boltz LA, Sancar A, Bambara RA", "reference": { "type": "PubMed", "id": "19329425", "url": "https://pubmed.ncbi.nlm.nih.gov/19329425" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19329425", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Cells deficient in PARP-1 show an accelerated accumulation of DNA single strand breaks, but not AP sites, over the PARP-1-proficient cells exposed to MMS.", "journal": "Mutation research", "date": "2009", "authors": "Pachkowski BF, Tano K, Afonin V, Elder RH, Takeda S, Watanabe M, Swenberg JA, Nakamura J", "reference": { "type": "PubMed", "id": "19778542", "url": "https://pubmed.ncbi.nlm.nih.gov/19778542" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19778542", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Crystal structure of the catalytic domain of human PARP2 in complex with PARP inhibitor ABT-888.", "journal": "Biochemistry", "date": "2010", "authors": "Karlberg Tobias, Hammarstr\u00f6m Martin, Sch\u00fctz Patrick, Svensson Linda, Sch\u00fcler Herwig", "reference": { "type": "PubMed", "id": "20092359", "url": "https://pubmed.ncbi.nlm.nih.gov/20092359" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20092359", "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": "Toward a unified nomenclature for mammalian ADP-ribosyltransferases.", "journal": "Trends Biochem. Sci.", "date": "2010", "authors": "Hottiger Michael O, Hassa Paul O, L\u00fcscher Bernhard, Sch\u00fcler Herwig, Koch-Nolte Friedrich", "reference": { "type": "PubMed", "id": "20106667", "url": "https://pubmed.ncbi.nlm.nih.gov/20106667" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z3E1-1", "protein_name": "Protein mono-ADP-ribosyltransferase TIPARP", "gene_name": "TIPARP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q460N3-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP15", "gene_name": "PARP15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q460N5-6", "protein_name": "Protein mono-ADP-ribosyltransferase PARP14", "gene_name": "PARP14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKK3-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP4", "gene_name": "PARP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6F1-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP3", "gene_name": "PARP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95271-1", "protein_name": "Poly [ADP-ribose] polymerase tankyrase-1", "gene_name": "TNKS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13508-1", "protein_name": "Ecto-ADP-ribosyltransferase 3", "gene_name": "ART3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52961-1", "protein_name": "GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1", "gene_name": "ART1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N5Y8-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP16", "gene_name": "PARP16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z2W4-1", "protein_name": "Zinc finger CCCH-type antiviral protein 1", "gene_name": "ZC3HAV1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2NL67-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP6", "gene_name": "PARP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N3A8-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP8", "gene_name": "PARP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0J9-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP12", "gene_name": "PARP12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXQ6-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP9", "gene_name": "PARP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR21-4", "protein_name": "Protein mono-ADP-ribosyltransferase PARP11", "gene_name": "PARP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2K2-1", "protein_name": "Poly [ADP-ribose] polymerase tankyrase-2", "gene_name": "TNKS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q53GL7-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP10", "gene_name": "PARP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q93070-1", "protein_name": "Ecto-ADP-ribosyltransferase 4", "gene_name": "ART4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96L15-1", "protein_name": "Ecto-ADP-ribosyltransferase 5", "gene_name": "ART5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20106667", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 21 } ], "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": "Alkylation DNA damage in combination with PARP inhibition results in formation of S-phase-dependent double-strand breaks.", "journal": "DNA repair", "date": "2010", "authors": "Heacock ML, Stefanick DF, Horton JK, Wilson SH", "reference": { "type": "PubMed", "id": "20573551", "url": "https://pubmed.ncbi.nlm.nih.gov/20573551" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20573551", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Poly (ADP-ribose) polymerase (PARP) is not involved in base excision repair but PARP inhibition traps a single-strand intermediate.", "journal": "Nucleic acids research", "date": "2011", "authors": "Strom CE, Johansson F, Uhlen M, Szigyarto CA, Erixon K, Helleday T", "reference": { "type": "PubMed", "id": "21183466", "url": "https://pubmed.ncbi.nlm.nih.gov/21183466" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21183466", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "PARG is recruited to DNA damage sites through poly(ADP-ribose)- and PCNA-dependent mechanisms.", "journal": "Nucleic acids research", "date": "2011", "authors": "Mortusewicz O, Fouquerel E, Ame JC, Leonhardt H, Schreiber V", "reference": { "type": "PubMed", "id": "21398629", "url": "https://pubmed.ncbi.nlm.nih.gov/21398629" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21398629", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "ADP-ribosylhydrolase 3 (ARH3), not poly(ADP-ribose) glycohydrolase (PARG) isoforms, is responsible for degradation of mitochondrial matrix-associated poly(ADP-ribose).", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Niere M, Mashimo M, Agledal L, Dolle C, Kasamatsu A, Kato J, Moss J, Ziegler M", "reference": { "type": "PubMed", "id": "22433848", "url": "https://pubmed.ncbi.nlm.nih.gov/22433848" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8CG72-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "Adprs", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22433848", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Family-wide analysis of poly(ADP-ribose) polymerase activity.", "journal": "Nature communications", "date": "2014", "authors": "Vyas S, Matic I, Uchima L, Rood J, Zaja R, Hay RT, Ahel I, Chang P", "reference": { "type": "PubMed", "id": "25043379", "url": "https://pubmed.ncbi.nlm.nih.gov/25043379" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z3E1-1", "protein_name": "Protein mono-ADP-ribosyltransferase TIPARP", "gene_name": "TIPARP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q460N3-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP15", "gene_name": "PARP15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q460N5-6", "protein_name": "Protein mono-ADP-ribosyltransferase PARP14", "gene_name": "PARP14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKK3-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP4", "gene_name": "PARP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6F1-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP3", "gene_name": "PARP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95271-1", "protein_name": "Poly [ADP-ribose] polymerase tankyrase-1", "gene_name": "TNKS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N5Y8-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP16", "gene_name": "PARP16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z2W4-1", "protein_name": "Zinc finger CCCH-type antiviral protein 1", "gene_name": "ZC3HAV1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2NL67-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP6", "gene_name": "PARP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N3A8-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP8", "gene_name": "PARP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H0J9-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP12", "gene_name": "PARP12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NR21-4", "protein_name": "Protein mono-ADP-ribosyltransferase PARP11", "gene_name": "PARP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2K2-1", "protein_name": "Poly [ADP-ribose] polymerase tankyrase-2", "gene_name": "TNKS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q53GL7-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP10", "gene_name": "PARP10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25043379", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "PARP-1 activation requires local unfolding of an autoinhibitory domain.", "journal": "Mol. Cell", "date": "2015", "authors": "Dawicki-McKenna JM, Langelier MF, DeNizio JE, Riccio AA, Cao CD, Karch KR, McCauley M, Steffen JD, Black BE, Pascal JM", "reference": { "type": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 318, "end_pos": 318, "sequence_org": "W", "sequence_mut": "A", "comment": "Strongly reduced poly-ADP-ribosyltransferase activity. Able to bind damaged DNA, however, defects in the interdomain communication prevent unfolding of the PARP alpha-helical domain, blocking catalytic activation.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "22582261", "url": "https://pubmed.ncbi.nlm.nih.gov/22582261" }, { "database": "PubMed", "id": "26626479", "url": "https://pubmed.ncbi.nlm.nih.gov/26626479" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" }, { "database": "PubMed", "id": "20388712", "url": "https://pubmed.ncbi.nlm.nih.gov/20388712" }, { "database": "PubMed", "id": "32241924", "url": "https://pubmed.ncbi.nlm.nih.gov/32241924" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 318, "end_pos": 318, "sequence_org": "W", "sequence_mut": "E", "comment": "Strongly reduced poly-ADP-ribosyltransferase activity. Able to bind damaged DNA, however, defects in the interdomain communication prevent unfolding of the PARP alpha-helical domain, blocking catalytic activation.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "22582261", "url": "https://pubmed.ncbi.nlm.nih.gov/22582261" }, { "database": "PubMed", "id": "26626479", "url": "https://pubmed.ncbi.nlm.nih.gov/26626479" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" }, { "database": "PubMed", "id": "20388712", "url": "https://pubmed.ncbi.nlm.nih.gov/20388712" }, { "database": "PubMed", "id": "32241924", "url": "https://pubmed.ncbi.nlm.nih.gov/32241924" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 318, "end_pos": 318, "sequence_org": "W", "sequence_mut": "R", "comment": "Strongly reduced poly-ADP-ribosyltransferase activity. Able to bind damaged DNA, however, defects in the interdomain communication prevent unfolding of the PARP alpha-helical domain, blocking catalytic activation.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "22582261", "url": "https://pubmed.ncbi.nlm.nih.gov/22582261" }, { "database": "PubMed", "id": "26626479", "url": "https://pubmed.ncbi.nlm.nih.gov/26626479" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" }, { "database": "PubMed", "id": "20388712", "url": "https://pubmed.ncbi.nlm.nih.gov/20388712" }, { "database": "PubMed", "id": "32241924", "url": "https://pubmed.ncbi.nlm.nih.gov/32241924" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 713, "end_pos": 713, "sequence_org": "L", "sequence_mut": "F", "comment": "Leads to constitutive activity in absence of DNA damage due to unfolding of the PARP alpha-helical domain, relieving autoinhibition.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "22582261", "url": "https://pubmed.ncbi.nlm.nih.gov/22582261" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 774, "end_pos": 774, "sequence_org": "A", "sequence_mut": "L", "comment": "Increased DNA-independent poly-ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 774, "end_pos": 774, "sequence_org": "A", "sequence_mut": "S", "comment": "Increased DNA-independent poly-ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 870, "end_pos": 870, "sequence_org": "A", "sequence_mut": "L", "comment": "Increased DNA-independent poly-ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 870, "end_pos": 870, "sequence_org": "A", "sequence_mut": "S", "comment": "Increased DNA-independent poly-ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 871, "end_pos": 871, "sequence_org": "G", "sequence_mut": "L", "comment": "Increased DNA-independent poly-ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 871, "end_pos": 871, "sequence_org": "G", "sequence_mut": "S", "comment": "Does not affect DNA-independent poly-ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 882, "end_pos": 882, "sequence_org": "P", "sequence_mut": "G", "comment": "Does not affect DNA-independent poly-ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 883, "end_pos": 887, "sequence_org": "EAPVT", "sequence_mut": "ASSVA", "comment": "Does not affect DNA-independent poly-ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 885, "end_pos": 885, "sequence_org": "P", "sequence_mut": "G", "comment": "Does not affect DNA-independent poly-ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 885, "end_pos": 885, "sequence_org": "P", "sequence_mut": "S", "comment": "Does not affect DNA-independent poly-ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "26626480", "url": "https://pubmed.ncbi.nlm.nih.gov/26626480" } ], "uniprot_canonical_ac": "P09874-1" } ], "record_id": "pubmed.26626480", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "PARP-2 domain requirements for DNA damage-dependent activation and localization to sites of DNA damage.", "journal": "Nucleic acids research", "date": "2016", "authors": "Riccio AA, Cingolani G, Pascal JM", "reference": { "type": "PubMed", "id": "26704974", "url": "https://pubmed.ncbi.nlm.nih.gov/26704974" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 129, "end_pos": 129, "sequence_org": "N", "sequence_mut": "A", "comment": "Reduced recruitment to DNA damage sites. Abolished DNA-induced ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "34108479", "url": "https://pubmed.ncbi.nlm.nih.gov/34108479" }, { "database": "PubMed", "id": "26704974", "url": "https://pubmed.ncbi.nlm.nih.gov/26704974" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 201, "end_pos": 201, "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduced recruitment to DNA damage sites. Decreased poly [ADP-ribose] polymerase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "26704974", "url": "https://pubmed.ncbi.nlm.nih.gov/26704974" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 21, "end_pos": 22, "sequence_org": "KR", "sequence_mut": "AA", "comment": "Reduced localization to the nucleus. Abolished localization to the nucleus; when associated with 37-A-A-38.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "26704974", "url": "https://pubmed.ncbi.nlm.nih.gov/26704974" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 37, "end_pos": 38, "sequence_org": "KK", "sequence_mut": "AA", "comment": "Reduced localization to the nucleus. Abolished localization to the nucleus; when associated with 21-A-A-22.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "26704974", "url": "https://pubmed.ncbi.nlm.nih.gov/26704974" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 558, "end_pos": 558, "sequence_org": "E", "sequence_mut": "A", "comment": "Abolished poly [ADP-ribose] polymerase activity without affecting localization to DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "26704974", "url": "https://pubmed.ncbi.nlm.nih.gov/26704974" }, { "database": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, { "database": "PubMed", "id": "33275888", "url": "https://pubmed.ncbi.nlm.nih.gov/33275888" } ], "uniprot_canonical_ac": "Q9UGN5-1" } ], "record_id": "pubmed.26704974", "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": "HPF1/C4orf27 is a PARP-1-interacting protein that regulates PARP-1 ADP-ribosylation activity.", "journal": "Mol. Cell", "date": "2016", "authors": "Gibbs-Seymour I, Fontana P, Rack JGM, Ahel I", "reference": { "type": "PubMed", "id": "27067600", "url": "https://pubmed.ncbi.nlm.nih.gov/27067600" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NWY4-1", "protein_name": "Histone PARylation factor 1", "gene_name": "HPF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 238, "end_pos": 239, "sequence_org": "YR", "sequence_mut": "AA", "comment": "Loss of ability to bind PARP1 and histones. Abolishes PARP1 ability to mediate ADP-ribosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWY4", "url": "https://www.uniprot.org/uniprotkb/Q9NWY4" }, { "database": "PubMed", "id": "27067600", "url": "https://pubmed.ncbi.nlm.nih.gov/27067600" }, { "database": "PubMed", "id": "28190768", "url": "https://pubmed.ncbi.nlm.nih.gov/28190768" } ], "uniprot_canonical_ac": "Q9NWY4-1" } ], "record_id": "pubmed.27067600", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Poly(ADP-ribose) polymerases covalently modify strand break termini in DNA fragments in vitro.", "journal": "Nucleic acids research", "date": "2016", "authors": "Talhaoui I, Lebedeva NA, Zarkovic G, Saint-Pierre C, Kutuzov MM, Sukhanova MV, Matkarimov BT, Gasparutto D, Saparbaev MK, Lavrik OI, Ishchenko AA", "reference": { "type": "PubMed", "id": "27471034", "url": "https://pubmed.ncbi.nlm.nih.gov/27471034" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27471034", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of DNA ADP-ribosyltransferase activities of PARP2 and PARP3: new insights into DNA ADP-ribosylation.", "journal": "Nucleic acids research", "date": "2018", "authors": "Zarkovic G, Belousova EA, Talhaoui I, Saint-Pierre C, Kutuzov MM, Matkarimov BT, Biard D, Gasparutto D, Lavrik OI, Ishchenko AA", "reference": { "type": "PubMed", "id": "29361132", "url": "https://pubmed.ncbi.nlm.nih.gov/29361132" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6F1-1", "protein_name": "Protein mono-ADP-ribosyltransferase PARP3", "gene_name": "PARP3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.29361132", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "PARP2 mediates branched poly ADP-ribosylation in response to DNA damage.", "journal": "Nature communications", "date": "2018", "authors": "Chen Q, Kassab MA, Dantzer F, Yu X", "reference": { "type": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IW19-1", "protein_name": "Aprataxin and PNK-like factor", "gene_name": "APLF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 558, "end_pos": 558, "sequence_org": "E", "sequence_mut": "A", "comment": "Abolished poly [ADP-ribose] polymerase activity without affecting localization to DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "26704974", "url": "https://pubmed.ncbi.nlm.nih.gov/26704974" }, { "database": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, { "database": "PubMed", "id": "33275888", "url": "https://pubmed.ncbi.nlm.nih.gov/33275888" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 988, "end_pos": 988, "sequence_org": "E", "sequence_mut": "A", "comment": "Poly-ADP-ribosyltransferase activity is inhibited while mono-ADP-ribosyltransferase activity is not affected; only monomers are added. Disrupts interaction with CHD1L and ability to recruit PARP2 to DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "9315851", "url": "https://pubmed.ncbi.nlm.nih.gov/9315851" }, { "database": "PubMed", "id": "7852410", "url": "https://pubmed.ncbi.nlm.nih.gov/7852410" }, { "database": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, { "database": "PubMed", "id": "29220653", "url": "https://pubmed.ncbi.nlm.nih.gov/29220653" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 988, "end_pos": 988, "sequence_org": "E", "sequence_mut": "D", "comment": "Poly-ADP-ribosyltransferase activity is inhibited while mono-ADP-ribosyltransferase activity is not affected; only monomers are added. Disrupts interaction with CHD1L and ability to recruit PARP2 to DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "9315851", "url": "https://pubmed.ncbi.nlm.nih.gov/9315851" }, { "database": "PubMed", "id": "7852410", "url": "https://pubmed.ncbi.nlm.nih.gov/7852410" }, { "database": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, { "database": "PubMed", "id": "29220653", "url": "https://pubmed.ncbi.nlm.nih.gov/29220653" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 988, "end_pos": 988, "sequence_org": "E", "sequence_mut": "K", "comment": "Poly-ADP-ribosyltransferase activity is inhibited while mono-ADP-ribosyltransferase activity is not affected; only monomers are added. Disrupts interaction with CHD1L and ability to recruit PARP2 to DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "9315851", "url": "https://pubmed.ncbi.nlm.nih.gov/9315851" }, { "database": "PubMed", "id": "7852410", "url": "https://pubmed.ncbi.nlm.nih.gov/7852410" }, { "database": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, { "database": "PubMed", "id": "29220653", "url": "https://pubmed.ncbi.nlm.nih.gov/29220653" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 988, "end_pos": 988, "sequence_org": "E", "sequence_mut": "Q", "comment": "Poly-ADP-ribosyltransferase activity is inhibited while mono-ADP-ribosyltransferase activity is not affected; only monomers are added. Disrupts interaction with CHD1L and ability to recruit PARP2 to DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "9315851", "url": "https://pubmed.ncbi.nlm.nih.gov/9315851" }, { "database": "PubMed", "id": "7852410", "url": "https://pubmed.ncbi.nlm.nih.gov/7852410" }, { "database": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, { "database": "PubMed", "id": "29220653", "url": "https://pubmed.ncbi.nlm.nih.gov/29220653" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "P09874-1" } ], "record_id": "pubmed.30104678", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structural basis for DNA break recognition by ARTD2/PARP2.", "journal": "Nucleic acids research", "date": "2018", "authors": "Obaji E, Haikarainen T, Lehtio L", "reference": { "type": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 127, "end_pos": 127, "sequence_org": "N", "sequence_mut": "A", "comment": "Decreased poly [ADP-ribose] polymerase activity. Impaired formation of a complex with damaged DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 128, "end_pos": 128, "sequence_org": "N", "sequence_mut": "A", "comment": "Does not affect poly [ADP-ribose] polymerase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 130, "end_pos": 130, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased poly [ADP-ribose] polymerase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 132, "end_pos": 132, "sequence_org": "Y", "sequence_mut": "F", "comment": "Decreased poly [ADP-ribose] polymerase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 151, "end_pos": 151, "sequence_org": "W", "sequence_mut": "A", "comment": "Decreased poly [ADP-ribose] polymerase activity. Impaired formation of a complex with damaged DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 153, "end_pos": 153, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolished formation of a complex with core nucleosome and HPF1, leading to abolished ability to catalyze serine ADP-ribosylation of histones. Abolished DNA-induced ADP-ribosyltransferase activity. Abolished trapping at DNA damage sites upon binding to PARP inhibitors (PARPi).", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "32939087", "url": "https://pubmed.ncbi.nlm.nih.gov/32939087" }, { "database": "PubMed", "id": "34108479", "url": "https://pubmed.ncbi.nlm.nih.gov/34108479" }, { "database": "PubMed", "id": "35349716", "url": "https://pubmed.ncbi.nlm.nih.gov/35349716" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 159, "end_pos": 159, "sequence_org": "Q", "sequence_mut": "A", "comment": "Decreased poly [ADP-ribose] polymerase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 183, "end_pos": 183, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased poly [ADP-ribose] polymerase activity. Impaired formation of a complex with damaged DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 201, "end_pos": 201, "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduced recruitment to DNA damage sites. Decreased poly [ADP-ribose] polymerase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "26704974", "url": "https://pubmed.ncbi.nlm.nih.gov/26704974" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" } ], "record_id": "pubmed.30321391", "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": "HPF1 completes the PARP active site for DNA damage-induced ADP-ribosylation.", "journal": "Nature", "date": "2020", "authors": "Suskiewicz MJ, Zobel F, Ogden TEH, Fontana P, Ariza A, Yang JC, Zhu K, Bracken L, Hawthorne WJ, Ahel D, Neuhaus D, Ahel I", "reference": { "type": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NWY4-1", "protein_name": "Histone PARylation factor 1", "gene_name": "HPF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 394, "end_pos": 394, "sequence_org": "H", "sequence_mut": "A", "comment": "Strongly reduced serine ADP-ribosylation, caused by abolished interaction with HPF1.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 582, "end_pos": 583, "sequence_org": "LW", "sequence_mut": "EE", "comment": "Strongly reduced serine ADP-ribosylation, caused by abolished interaction with HPF1.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 1013, "end_pos": 1014, "sequence_org": "LW", "sequence_mut": "EE", "comment": "Strongly reduced serine ADP-ribosylation, caused by abolished interaction with HPF1.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 826, "end_pos": 826, "sequence_org": "H", "sequence_mut": "A", "comment": "Strongly reduced serine ADP-ribosylation, caused by abolished interaction with HPF1.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 988, "end_pos": 988, "sequence_org": "E", "sequence_mut": "A", "comment": "Poly-ADP-ribosyltransferase activity is inhibited while mono-ADP-ribosyltransferase activity is not affected; only monomers are added. Disrupts interaction with CHD1L and ability to recruit PARP2 to DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "9315851", "url": "https://pubmed.ncbi.nlm.nih.gov/9315851" }, { "database": "PubMed", "id": "7852410", "url": "https://pubmed.ncbi.nlm.nih.gov/7852410" }, { "database": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, { "database": "PubMed", "id": "29220653", "url": "https://pubmed.ncbi.nlm.nih.gov/29220653" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 988, "end_pos": 988, "sequence_org": "E", "sequence_mut": "D", "comment": "Poly-ADP-ribosyltransferase activity is inhibited while mono-ADP-ribosyltransferase activity is not affected; only monomers are added. Disrupts interaction with CHD1L and ability to recruit PARP2 to DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "9315851", "url": "https://pubmed.ncbi.nlm.nih.gov/9315851" }, { "database": "PubMed", "id": "7852410", "url": "https://pubmed.ncbi.nlm.nih.gov/7852410" }, { "database": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, { "database": "PubMed", "id": "29220653", "url": "https://pubmed.ncbi.nlm.nih.gov/29220653" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 988, "end_pos": 988, "sequence_org": "E", "sequence_mut": "K", "comment": "Poly-ADP-ribosyltransferase activity is inhibited while mono-ADP-ribosyltransferase activity is not affected; only monomers are added. Disrupts interaction with CHD1L and ability to recruit PARP2 to DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "9315851", "url": "https://pubmed.ncbi.nlm.nih.gov/9315851" }, { "database": "PubMed", "id": "7852410", "url": "https://pubmed.ncbi.nlm.nih.gov/7852410" }, { "database": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, { "database": "PubMed", "id": "29220653", "url": "https://pubmed.ncbi.nlm.nih.gov/29220653" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 988, "end_pos": 988, "sequence_org": "E", "sequence_mut": "Q", "comment": "Poly-ADP-ribosyltransferase activity is inhibited while mono-ADP-ribosyltransferase activity is not affected; only monomers are added. Disrupts interaction with CHD1L and ability to recruit PARP2 to DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "9315851", "url": "https://pubmed.ncbi.nlm.nih.gov/9315851" }, { "database": "PubMed", "id": "7852410", "url": "https://pubmed.ncbi.nlm.nih.gov/7852410" }, { "database": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, { "database": "PubMed", "id": "29220653", "url": "https://pubmed.ncbi.nlm.nih.gov/29220653" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 239, "end_pos": 239, "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly reduced serine ADP-ribosylation by PARP1 and PARP2. Decreases PARP1 ability to mediate tyrosine ADP-ribosylation. Promotes auto-ADP-ribosylation of PARP1.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWY4", "url": "https://www.uniprot.org/uniprotkb/Q9NWY4" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" }, { "database": "PubMed", "id": "33589610", "url": "https://pubmed.ncbi.nlm.nih.gov/33589610" }, { "database": "PubMed", "id": "30257210", "url": "https://pubmed.ncbi.nlm.nih.gov/30257210" } ], "uniprot_canonical_ac": "Q9NWY4-1" }, { "start_pos": 243, "end_pos": 243, "sequence_org": "E", "sequence_mut": "A", "comment": "Does not affect serine ADP-ribosylation by PARP1 and PARP2.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWY4", "url": "https://www.uniprot.org/uniprotkb/Q9NWY4" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "Q9NWY4-1" }, { "start_pos": 283, "end_pos": 283, "sequence_org": "D", "sequence_mut": "A", "comment": "Strongly reduced serine ADP-ribosylation by PARP1 and PARP2.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWY4", "url": "https://www.uniprot.org/uniprotkb/Q9NWY4" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" }, { "database": "PubMed", "id": "33683197", "url": "https://pubmed.ncbi.nlm.nih.gov/33683197" } ], "uniprot_canonical_ac": "Q9NWY4-1" }, { "start_pos": 284, "end_pos": 284, "sequence_org": "E", "sequence_mut": "A", "comment": "Abolished serine ADP-ribosylation by PARP1 and PARP2.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWY4", "url": "https://www.uniprot.org/uniprotkb/Q9NWY4" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" }, { "database": "PubMed", "id": "33589610", "url": "https://pubmed.ncbi.nlm.nih.gov/33589610" }, { "database": "PubMed", "id": "33683197", "url": "https://pubmed.ncbi.nlm.nih.gov/33683197" } ], "uniprot_canonical_ac": "Q9NWY4-1" }, { "start_pos": 286, "end_pos": 286, "sequence_org": "D", "sequence_mut": "A", "comment": "Strongly reduced serine ADP-ribosylation by PARP1 and PARP2.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWY4", "url": "https://www.uniprot.org/uniprotkb/Q9NWY4" }, { "database": "PubMed", "id": "32028527", "url": "https://pubmed.ncbi.nlm.nih.gov/32028527" } ], "uniprot_canonical_ac": "Q9NWY4-1" } ], "record_id": "pubmed.32028527", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Bridging of DNA breaks activates PARP2-HPF1 to modify chromatin.", "journal": "Nature", "date": "2020", "authors": "Bilokapic S, Suskiewicz MJ, Ahel I, Halic M", "reference": { "type": "PubMed", "id": "32939087", "url": "https://pubmed.ncbi.nlm.nih.gov/32939087" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NWY4-1", "protein_name": "Histone PARylation factor 1", "gene_name": "HPF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 153, "end_pos": 153, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolished formation of a complex with core nucleosome and HPF1, leading to abolished ability to catalyze serine ADP-ribosylation of histones. Abolished DNA-induced ADP-ribosyltransferase activity. Abolished trapping at DNA damage sites upon binding to PARP inhibitors (PARPi).", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "32939087", "url": "https://pubmed.ncbi.nlm.nih.gov/32939087" }, { "database": "PubMed", "id": "34108479", "url": "https://pubmed.ncbi.nlm.nih.gov/34108479" }, { "database": "PubMed", "id": "35349716", "url": "https://pubmed.ncbi.nlm.nih.gov/35349716" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 154, "end_pos": 154, "sequence_org": "V", "sequence_mut": "A", "comment": "Abolished formation of a complex with core nucleosome and HPF1, leading to abolished ability to catalyze serine ADP-ribosylation of histones.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "32939087", "url": "https://pubmed.ncbi.nlm.nih.gov/32939087" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 149, "end_pos": 150, "sequence_org": "KK", "sequence_mut": "EE", "comment": "Abolished interaction with PARP2, leading to destabilize the PARP2-nucleosome complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWY4", "url": "https://www.uniprot.org/uniprotkb/Q9NWY4" }, { "database": "PubMed", "id": "32939087", "url": "https://pubmed.ncbi.nlm.nih.gov/32939087" } ], "uniprot_canonical_ac": "Q9NWY4-1" }, { "start_pos": 179, "end_pos": 181, "sequence_org": "KKK", "sequence_mut": "EEE", "comment": "Abolished interaction with PARP2, leading to destabilize the PARP2-nucleosome complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWY4", "url": "https://www.uniprot.org/uniprotkb/Q9NWY4" }, { "database": "PubMed", "id": "32939087", "url": "https://pubmed.ncbi.nlm.nih.gov/32939087" } ], "uniprot_canonical_ac": "Q9NWY4-1" } ], "record_id": "pubmed.32939087", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Bridging of nucleosome-proximal DNA double-strand breaks by PARP2 enhances its interaction with HPF1.", "journal": "PloS one", "date": "2020", "authors": "Gaullier G, Roberts G, Muthurajan UM, Bowerman S, Rudolph J, Mahadevan J, Jha A, Rae PS, Luger K", "reference": { "type": "PubMed", "id": "33141820", "url": "https://pubmed.ncbi.nlm.nih.gov/33141820" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62805-1", "protein_name": "Histone H4", "gene_name": "H4C11; H4C12; H4C13; H4C14; H4C15; H4C16; H4C1; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68431-1", "protein_name": "Histone H3.1", "gene_name": "H3C10; H3C11; H3C12; H3C1; H3C2; H3C3; H3C4; H3C6; H3C7; H3C8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06899-1", "protein_name": "Histone H2B type 1-J", "gene_name": "H2BC11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NWY4-1", "protein_name": "Histone PARylation factor 1", "gene_name": "HPF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 125, "end_pos": 126, "sequence_org": "QF", "sequence_mut": "RD", "comment": "In PARP2-QFRD mutant; induces conformational change that bridges nucleosomes by binding to linker DNA ends and promotes interaction with HPF1.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "33141820", "url": "https://pubmed.ncbi.nlm.nih.gov/33141820" } ], "uniprot_canonical_ac": "Q9UGN5-1" } ], "record_id": "pubmed.33141820", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The Oncogenic Helicase ALC1 Regulates PARP Inhibitor Potency by Trapping PARP2 at DNA Breaks.", "journal": "Molecular cell", "date": "2020", "authors": "Blessing C, Mandemaker IK, Gonzalez-Leal C, Preisser J, Schomburg A, Ladurner AG", "reference": { "type": "PubMed", "id": "33275888", "url": "https://pubmed.ncbi.nlm.nih.gov/33275888" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WJ1-1", "protein_name": "ATP-dependent chromatin remodeler CHD1L", "gene_name": "CHD1L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 558, "end_pos": 558, "sequence_org": "E", "sequence_mut": "A", "comment": "Abolished poly [ADP-ribose] polymerase activity without affecting localization to DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "26704974", "url": "https://pubmed.ncbi.nlm.nih.gov/26704974" }, { "database": "PubMed", "id": "30104678", "url": "https://pubmed.ncbi.nlm.nih.gov/30104678" }, { "database": "PubMed", "id": "33275888", "url": "https://pubmed.ncbi.nlm.nih.gov/33275888" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 175, "end_pos": 175, "sequence_org": "E", "sequence_mut": "Q", "comment": "Abrogates chromatin remodeling activity. Prevents PARP2 removal from chromatin.", "evidence": [ { "database": "UniProtKB", "id": "Q86WJ1", "url": "https://www.uniprot.org/uniprotkb/Q86WJ1" }, { "database": "PubMed", "id": "29220653", "url": "https://pubmed.ncbi.nlm.nih.gov/29220653" }, { "database": "PubMed", "id": "33275888", "url": "https://pubmed.ncbi.nlm.nih.gov/33275888" } ], "uniprot_canonical_ac": "Q86WJ1-1" } ], "record_id": "pubmed.33275888", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Activation of PARP2/ARTD2 by DNA damage induces conformational changes relieving enzyme autoinhibition.", "journal": "Nature communications", "date": "2021", "authors": "Obaji E, Maksimainen MM, Galera-Prat A, Lehtio L", "reference": { "type": "PubMed", "id": "34108479", "url": "https://pubmed.ncbi.nlm.nih.gov/34108479" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NWY4-1", "protein_name": "Histone PARylation factor 1", "gene_name": "HPF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 129, "end_pos": 129, "sequence_org": "N", "sequence_mut": "A", "comment": "Reduced recruitment to DNA damage sites. Abolished DNA-induced ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "34108479", "url": "https://pubmed.ncbi.nlm.nih.gov/34108479" }, { "database": "PubMed", "id": "26704974", "url": "https://pubmed.ncbi.nlm.nih.gov/26704974" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 153, "end_pos": 153, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolished formation of a complex with core nucleosome and HPF1, leading to abolished ability to catalyze serine ADP-ribosylation of histones. Abolished DNA-induced ADP-ribosyltransferase activity. Abolished trapping at DNA damage sites upon binding to PARP inhibitors (PARPi).", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "32939087", "url": "https://pubmed.ncbi.nlm.nih.gov/32939087" }, { "database": "PubMed", "id": "34108479", "url": "https://pubmed.ncbi.nlm.nih.gov/34108479" }, { "database": "PubMed", "id": "35349716", "url": "https://pubmed.ncbi.nlm.nih.gov/35349716" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 201, "end_pos": 201, "sequence_org": "Y", "sequence_mut": "A", "comment": "Reduced DNA-induced ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "34108479", "url": "https://pubmed.ncbi.nlm.nih.gov/34108479" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 286, "end_pos": 286, "sequence_org": "E", "sequence_mut": "A", "comment": "Increased DNA-induced ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "34108479", "url": "https://pubmed.ncbi.nlm.nih.gov/34108479" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 286, "end_pos": 286, "sequence_org": "E", "sequence_mut": "R", "comment": "Increased DNA-induced ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "34108479", "url": "https://pubmed.ncbi.nlm.nih.gov/34108479" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 338, "end_pos": 338, "sequence_org": "G", "sequence_mut": "A", "comment": "Does not affect DNA-induced ADP-ribosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "34108479", "url": "https://pubmed.ncbi.nlm.nih.gov/34108479" } ], "uniprot_canonical_ac": "Q9UGN5-1" } ], "record_id": "pubmed.34108479", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structure and dynamics of the chromatin remodeler ALC1 bound to a PARylated nucleosome.", "journal": "eLife", "date": "2021", "authors": "Bacic L, Gaullier G, Sabantsev A, Lehmann LC, Brackmann K, Dimakou D, Halic M, Hewitt G, Boulton SJ, Deindl S", "reference": { "type": "PubMed", "id": "34486521", "url": "https://pubmed.ncbi.nlm.nih.gov/34486521" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WJ1-1", "protein_name": "ATP-dependent chromatin remodeler CHD1L", "gene_name": "CHD1L", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NWY4-1", "protein_name": "Histone PARylation factor 1", "gene_name": "HPF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 611, "end_pos": 612, "sequence_org": "RS", "sequence_mut": "AA", "comment": "Strongly reduced interaction with the acidic patch of histones.", "evidence": [ { "database": "UniProtKB", "id": "Q86WJ1", "url": "https://www.uniprot.org/uniprotkb/Q86WJ1" }, { "database": "PubMed", "id": "34486521", "url": "https://pubmed.ncbi.nlm.nih.gov/34486521" }, { "database": "PubMed", "id": "33357431", "url": "https://pubmed.ncbi.nlm.nih.gov/33357431" } ], "uniprot_canonical_ac": "Q86WJ1-1" } ], "record_id": "pubmed.34486521", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Dual function of HPF1 in the modulation of PARP1 and PARP2 activities.", "journal": "Communications biology", "date": "2021", "authors": "Kurgina TA, Moor NA, Kutuzov MM, Naumenko KN, Ukraintsev AA, Lavrik OI", "reference": { "type": "PubMed", "id": "34732825", "url": "https://pubmed.ncbi.nlm.nih.gov/34732825" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NWY4-1", "protein_name": "Histone PARylation factor 1", "gene_name": "HPF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34732825", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "HPF1 dynamically controls the PARP1/2 balance between initiating and elongating ADP-ribose modifications.", "journal": "Nature communications", "date": "2021", "authors": "Langelier MF, Billur R, Sverzhinsky A, Black BE, Pascal JM", "reference": { "type": "PubMed", "id": "34795260", "url": "https://pubmed.ncbi.nlm.nih.gov/34795260" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NWY4-1", "protein_name": "Histone PARylation factor 1", "gene_name": "HPF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 826, "end_pos": 826, "sequence_org": "H", "sequence_mut": "E", "comment": "Decreased polymerase activity, leading to the production of short poly-ADP-ribose chains.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "34795260", "url": "https://pubmed.ncbi.nlm.nih.gov/34795260" } ], "uniprot_canonical_ac": "P09874-1" }, { "start_pos": 865, "end_pos": 865, "sequence_org": "R", "sequence_mut": "A", "comment": "Increased affinity for DNA damage sites.", "evidence": [ { "database": "UniProtKB", "id": "P09874", "url": "https://www.uniprot.org/uniprotkb/P09874" }, { "database": "PubMed", "id": "34795260", "url": "https://pubmed.ncbi.nlm.nih.gov/34795260" } ], "uniprot_canonical_ac": "P09874-1" } ], "record_id": "pubmed.34795260", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Serine ADP-ribosylation marks nucleosomes for ALC1-dependent chromatin remodeling.", "journal": "eLife", "date": "2021", "authors": "Mohapatra J, Tashiro K, Beckner RL, Sierra J, Kilgore JA, Williams NS, Liszczak G", "reference": { "type": "PubMed", "id": "34874266", "url": "https://pubmed.ncbi.nlm.nih.gov/34874266" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P84243-1", "protein_name": "Histone H3.3", "gene_name": "H3-3A; H3-3B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WJ1-1", "protein_name": "ATP-dependent chromatin remodeler CHD1L", "gene_name": "CHD1L", "tax_name": "Human" }, { "uniprot_canonical_ac": "P68431-1", "protein_name": "Histone H3.1", "gene_name": "H3C10; H3C11; H3C12; H3C1; H3C2; H3C3; H3C4; H3C6; H3C7; H3C8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16778-1", "protein_name": "Histone H2B type 2-E", "gene_name": "H2BC21", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62807-1", "protein_name": "Histone H2B type 1-C/E/F/G/I", "gene_name": "H2BC10; H2BC4; H2BC6; H2BC7; H2BC8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q71DI3-1", "protein_name": "Histone H3.2", "gene_name": "H3C13; H3C14; H3C15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5QNW6-1", "protein_name": "Histone H2B type 2-F", "gene_name": "H2BC18", "tax_name": "Human" }, { "uniprot_canonical_ac": "P33778-1", "protein_name": "Histone H2B type 1-B", "gene_name": "H2BC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P58876-1", "protein_name": "Histone H2B type 1-D", "gene_name": "H2BC5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P23527-1", "protein_name": "Histone H2B type 1-O", "gene_name": "H2BC17", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60814-1", "protein_name": "Histone H2B type 1-K", "gene_name": "H2BC12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q93079-1", "protein_name": "Histone H2B type 1-H", "gene_name": "H2BC9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99879-1", "protein_name": "Histone H2B type 1-M", "gene_name": "H2BC14", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06899-1", "protein_name": "Histone H2B type 1-J", "gene_name": "H2BC11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P57053-1", "protein_name": "Histone H2B type F-S", "gene_name": "H2BC12L", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N257-1", "protein_name": "Histone H2B type 3-B", "gene_name": "H2BC26", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99877-1", "protein_name": "Histone H2B type 1-N", "gene_name": "H2BC15", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99880-1", "protein_name": "Histone H2B type 1-L", "gene_name": "H2BC13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NWY4-1", "protein_name": "Histone PARylation factor 1", "gene_name": "HPF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34874266", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 21 } ], "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": "PARP inhibitors trap PARP2 and alter the mode of recruitment of PARP2 at DNA damage sites.", "journal": "Nucleic acids research", "date": "2022", "authors": "Lin X, Jiang W, Rudolph J, Lee BJ, Luger K, Zha S", "reference": { "type": "PubMed", "id": "35349716", "url": "https://pubmed.ncbi.nlm.nih.gov/35349716" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 153, "end_pos": 153, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolished formation of a complex with core nucleosome and HPF1, leading to abolished ability to catalyze serine ADP-ribosylation of histones. Abolished DNA-induced ADP-ribosyltransferase activity. Abolished trapping at DNA damage sites upon binding to PARP inhibitors (PARPi).", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "32939087", "url": "https://pubmed.ncbi.nlm.nih.gov/32939087" }, { "database": "PubMed", "id": "34108479", "url": "https://pubmed.ncbi.nlm.nih.gov/34108479" }, { "database": "PubMed", "id": "35349716", "url": "https://pubmed.ncbi.nlm.nih.gov/35349716" }, { "database": "PubMed", "id": "30321391", "url": "https://pubmed.ncbi.nlm.nih.gov/30321391" } ], "uniprot_canonical_ac": "Q9UGN5-1" }, { "start_pos": 428, "end_pos": 428, "sequence_org": "H", "sequence_mut": "A", "comment": "Abolished trapping at DNA damage sites upon binding to PARP inhibitors (PARPi).", "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" }, { "database": "PubMed", "id": "35349716", "url": "https://pubmed.ncbi.nlm.nih.gov/35349716" } ], "uniprot_canonical_ac": "Q9UGN5-1" } ], "record_id": "pubmed.35349716", "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": "Single-molecule force spectroscopy reveals binding and bridging dynamics of PARP1 and PARP2 at DNA double-strand breaks.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2023-05-30", "authors": "Bell Nicholas A W, Molloy Justin E", "reference": { "type": "PubMed", "id": "37216533", "url": "https://pubmed.ncbi.nlm.nih.gov/37216533" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37216533", "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 CSB chromatin remodeler regulates PARP1- and PARP2-mediated single-strand break repair at actively transcribed DNA regions.", "journal": "Nucleic acids research", "date": "2023-08-11", "authors": "Bilkis Rabeya, Lake Robert J, Cooper Karen L, Tomkinson Alan, Fan Hua-Ying", "reference": { "type": "PubMed", "id": "37326017", "url": "https://pubmed.ncbi.nlm.nih.gov/37326017" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37326017", "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": "Regulatory apoptotic fragment of PARP1 complements catalytic fragment for PAR and DNA-dependent activity but inhibits DNA-induced catalytic stimulation of PARP2.", "journal": "DNA repair", "date": "2024-01", "authors": "Deeksha Waghela, Rajakumara Eerappa", "reference": { "type": "PubMed", "id": "38029688", "url": "https://pubmed.ncbi.nlm.nih.gov/38029688" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38029688", "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": "Regulation of DNA ligase activity by poly(ADP-ribose).", "journal": "Nature", "date": "1982", "authors": "Creissen D, Shall S", "reference": { "type": "PubMed", "id": "6278323", "url": "https://pubmed.ncbi.nlm.nih.gov/6278323" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6278323", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Prigent C, Satoh MS, Daly G, Barnes DE, Lindahl T", "reference": { "type": "PubMed", "id": "8264597", "url": "https://pubmed.ncbi.nlm.nih.gov/8264597" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8264597", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Specific interaction of DNA polymerase beta and DNA ligase I in a multiprotein base excision repair complex from bovine testis.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Prasad R, Singhal RK, Srivastava DK, Molina JT, Tomkinson AE, Wilson SH", "reference": { "type": "PubMed", "id": "8663274", "url": "https://pubmed.ncbi.nlm.nih.gov/8663274" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8663274", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Thermodynamics of human DNA ligase I trimerization and association with DNA polymerase beta.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Dimitriadis EK, Prasad R, Vaske MK, Chen L, Tomkinson AE, Lewis MS, Wilson SH", "reference": { "type": "PubMed", "id": "9685411", "url": "https://pubmed.ncbi.nlm.nih.gov/9685411" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9685411", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Poly(ADP-ribose) polymerase null mouse cells synthesize ADP-ribose polymers.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Shieh WM, Ame JC, Wilson MV, Wang ZQ, Koh DW, Jacobson MK, Jacobson EL", "reference": { "type": "PubMed", "id": "9804757", "url": "https://pubmed.ncbi.nlm.nih.gov/9804757" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UGN5-1", "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86W56-1", "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18858-1", "protein_name": "DNA ligase 1", "gene_name": "LIG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NX46-1", "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39748-1", "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06746-1", "protein_name": "DNA polymerase beta", "gene_name": "POLB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27695-1", "protein_name": "DNA repair nuclease/redox regulator APEX1", "gene_name": "APEX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09874-1", "protein_name": "Poly [ADP-ribose] polymerase 1", "gene_name": "PARP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UGN5", "url": "https://www.uniprot.org/uniprotkb/Q9UGN5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9804757", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Organization, chromosomal localization and promoter analysis of the gene encoding human acidic fibroblast growth factor intracellular binding protein.", "journal": "Biochem. J.", "date": "2000", "authors": "Kolpakova E, Frengen E, Stokke T, Olsnes S", "reference": { "type": "PubMed", "id": "11104667", "url": "https://pubmed.ncbi.nlm.nih.gov/11104667" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43427-1", "protein_name": "Acidic fibroblast growth factor intracellular-binding protein", "gene_name": "FIBP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9JI19-1", "protein_name": "Acidic fibroblast growth factor intracellular-binding protein", "gene_name": "Fibp", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43427", "url": "https://www.uniprot.org/uniprotkb/O43427" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11104667", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of ribosome-binding protein p34 as an intracellular protein that binds acidic fibroblast growth factor.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Skjerpen CS, Wesche J, Olsnes S", "reference": { "type": "PubMed", "id": "11964394", "url": "https://pubmed.ncbi.nlm.nih.gov/11964394" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43427-1", "protein_name": "Acidic fibroblast growth factor intracellular-binding protein", "gene_name": "FIBP", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AG4-1", "protein_name": "Leucine-rich repeat-containing protein 59", "gene_name": "LRRC59", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P67870-1", "protein_name": "Casein kinase II subunit beta", "gene_name": "CSNK2B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43427", "url": "https://www.uniprot.org/uniprotkb/O43427" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 114, "end_pos": 114, "sequence_org": "S", "sequence_mut": "A", "comment": "Decrease in LRRC59-binding.", "evidence": [ { "database": "UniProtKB", "id": "P05230", "url": "https://www.uniprot.org/uniprotkb/P05230" }, { "database": "PubMed", "id": "11964394", "url": "https://pubmed.ncbi.nlm.nih.gov/11964394" } ], "uniprot_canonical_ac": "P05230-1" }, { "start_pos": 131, "end_pos": 131, "sequence_org": "S", "sequence_mut": "A", "comment": "Decrease in LRRC59-binding.", "evidence": [ { "database": "UniProtKB", "id": "P05230", "url": "https://www.uniprot.org/uniprotkb/P05230" }, { "database": "PubMed", "id": "11964394", "url": "https://pubmed.ncbi.nlm.nih.gov/11964394" } ], "uniprot_canonical_ac": "P05230-1" }, { "start_pos": 131, "end_pos": 131, "sequence_org": "S", "sequence_mut": "E", "comment": "Decrease in LRRC59-binding.", "evidence": [ { "database": "UniProtKB", "id": "P05230", "url": "https://www.uniprot.org/uniprotkb/P05230" }, { "database": "PubMed", "id": "11964394", "url": "https://pubmed.ncbi.nlm.nih.gov/11964394" } ], "uniprot_canonical_ac": "P05230-1" }, { "start_pos": 133, "end_pos": 133, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of LRRC59-binding.", "evidence": [ { "database": "UniProtKB", "id": "P05230", "url": "https://www.uniprot.org/uniprotkb/P05230" }, { "database": "PubMed", "id": "11964394", "url": "https://pubmed.ncbi.nlm.nih.gov/11964394" } ], "uniprot_canonical_ac": "P05230-1" }, { "start_pos": 133, "end_pos": 133, "sequence_org": "K", "sequence_mut": "E", "comment": "Loss of CSNK2A-, CSNK2B- and LRRC59-binding. Reduced integrin-binding; when associated with E-134. Defective in integrin-, heparin- and FGFR1-binding, and defective in inducing FGF1 signaling, cell proliferation and cell migration; when associated with E-128; E-133 and E-134.", "evidence": [ { "database": "UniProtKB", "id": "P05230", "url": "https://www.uniprot.org/uniprotkb/P05230" }, { "database": "PubMed", "id": "18441324", "url": "https://pubmed.ncbi.nlm.nih.gov/18441324" }, { "database": "PubMed", "id": "11964394", "url": "https://pubmed.ncbi.nlm.nih.gov/11964394" } ], "uniprot_canonical_ac": "P05230-1" }, { "start_pos": 133, "end_pos": 133, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on LRRC59-binding.", "evidence": [ { "database": "UniProtKB", "id": "P05230", "url": "https://www.uniprot.org/uniprotkb/P05230" }, { "database": "PubMed", "id": "11964394", "url": "https://pubmed.ncbi.nlm.nih.gov/11964394" } ], "uniprot_canonical_ac": "P05230-1" } ], "record_id": "pubmed.11964394", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Angiogenic factor expression in hepatic cirrhosis.", "journal": "Mediators of inflammation", "date": "2007", "authors": "Giatromanolaki A, Kotsiou S, Koukourakis MI, Sivridis E", "reference": { "type": "PubMed", "id": "17497037", "url": "https://pubmed.ncbi.nlm.nih.gov/17497037" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43427-1", "protein_name": "Acidic fibroblast growth factor intracellular-binding protein", "gene_name": "FIBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43427", "url": "https://www.uniprot.org/uniprotkb/O43427" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17497037", "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": "Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.", "journal": "Clin. Genet.", "date": "2016", "authors": "Thauvin-Robinet C, Duplomb-Jego L, Limoge F, Picot D, Masurel A, Terriat B, Champilou C, Minot D, St-Onge J, Kuentz P, Duffourd Y, Thevenon J, Rivi\u00e8re J-B, Faivre L", "reference": { "type": "PubMed", "id": "26660953", "url": "https://pubmed.ncbi.nlm.nih.gov/26660953" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43427-1", "protein_name": "Acidic fibroblast growth factor intracellular-binding protein", "gene_name": "FIBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43427", "url": "https://www.uniprot.org/uniprotkb/O43427" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26660953", "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 recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.", "journal": "American journal of medical genetics. Part A", "date": "2016", "authors": "Akawi N, Ben-Salem S, Lahti L, Partanen J, Ali BR, Al-Gazali L", "reference": { "type": "PubMed", "id": "27183861", "url": "https://pubmed.ncbi.nlm.nih.gov/27183861" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43427-1", "protein_name": "Acidic fibroblast growth factor intracellular-binding protein", "gene_name": "FIBP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9JI19-1", "protein_name": "Acidic fibroblast growth factor intracellular-binding protein", "gene_name": "Fibp", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43427", "url": "https://www.uniprot.org/uniprotkb/O43427" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27183861", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "FIBP interacts with transcription factor STAT3 to induce EME1 expression and drive radioresistance in lung adenocarcinoma.", "journal": "International journal of biological sciences", "date": "2023", "authors": "Xu Yunhong, Li Jun, Zhu Kuikui, Zeng Yulan, Chen Jing, Dong Xiaorong, Zhang Sheng, Xu Shuangbing, Wu Gang", "reference": { "type": "PubMed", "id": "37564211", "url": "https://pubmed.ncbi.nlm.nih.gov/37564211" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43427-1", "protein_name": "Acidic fibroblast growth factor intracellular-binding protein", "gene_name": "FIBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43427", "url": "https://www.uniprot.org/uniprotkb/O43427" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37564211", "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": "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.", "journal": "American journal of medical genetics. Part A", "date": "2024-03", "authors": "K\u0131l\u0131\u00e7 Esra, Ko\u015fukcu Can", "reference": { "type": "PubMed", "id": "37876348", "url": "https://pubmed.ncbi.nlm.nih.gov/37876348" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43427-1", "protein_name": "Acidic fibroblast growth factor intracellular-binding protein", "gene_name": "FIBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43427", "url": "https://www.uniprot.org/uniprotkb/O43427" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37876348", "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": "Cloning of an intracellular protein that binds selectively to mitogenic acidic fibroblast growth factor.", "journal": "The Biochemical journal", "date": "1998-11-15", "authors": "Kolpakova E, Wied\u0142ocha A, Stenmark H, Klingenberg O, Falnes P O, Olsnes S", "reference": { "type": "PubMed", "id": "9806903", "url": "https://pubmed.ncbi.nlm.nih.gov/9806903" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43427-1", "protein_name": "Acidic fibroblast growth factor intracellular-binding protein", "gene_name": "FIBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43427", "url": "https://www.uniprot.org/uniprotkb/O43427" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9806903", "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 and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin.", "journal": "Cancer research", "date": "2000-07-01", "authors": "Kawasoe T, Furukawa Y, Daigo Y, Nishiwaki T, Ishiguro H, Fujita M, Satoh S, Miwa N, Nagasawa Y, Miyoshi Y, Ogawa M, Nakamura Y", "reference": { "type": "PubMed", "id": "10910037", "url": "https://pubmed.ncbi.nlm.nih.gov/10910037" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BYI3-1", "protein_name": "Hyccin", "gene_name": "HYCC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6P9N1-1", "protein_name": "Hyccin", "gene_name": "Hycc1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYI3", "url": "https://www.uniprot.org/uniprotkb/Q9BYI3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10910037", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.", "journal": "Nature genetics", "date": "2006", "authors": "Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C", "reference": { "type": "PubMed", "id": "16951682", "url": "https://pubmed.ncbi.nlm.nih.gov/16951682" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BYI3-1", "protein_name": "Hyccin", "gene_name": "HYCC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYI3", "url": "https://www.uniprot.org/uniprotkb/Q9BYI3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16951682", "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 deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.", "journal": "European journal of human genetics : EJHG", "date": "2008", "authors": "Ugur SA, Tolun A", "reference": { "type": "PubMed", "id": "17928815", "url": "https://pubmed.ncbi.nlm.nih.gov/17928815" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BYI3-1", "protein_name": "Hyccin", "gene_name": "HYCC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYI3", "url": "https://www.uniprot.org/uniprotkb/Q9BYI3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17928815", "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": "Hypomyelination and congenital cataract: broadening the clinical phenotype.", "journal": "Arch. Neurol.", "date": "2011", "authors": "Biancheri Roberta, Zara Federico, Rossi Andrea, Mathot Mikael, Nassogne Marie Cecile, Yalcinkaya Cengiz, Erturk Ozdem, Tuysuz Behyan, Di Rocco Maja, Gazzerro Elisabetta, Bugiani Marianna, van Spaendonk Resie, Sistermans Erik A, Minetti Carlo, van der Knaap Marjo S, Wolf Nicole I", "reference": { "type": "PubMed", "id": "21911699", "url": "https://pubmed.ncbi.nlm.nih.gov/21911699" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BYI3-1", "protein_name": "Hyccin", "gene_name": "HYCC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYI3", "url": "https://www.uniprot.org/uniprotkb/Q9BYI3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21911699", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel FAM126A mutations in hypomyelination and congenital cataract disease.", "journal": "Biochemical and biophysical research communications", "date": "2013", "authors": "Traverso M, Assereto S, Gazzerro E, Savasta S, Abdalla EM, Rossi A, Baldassari S, Fruscione F, Ruffinazzi G, Fassad MR, El Beheiry A, Minetti C, Zara F, Biancheri R", "reference": { "type": "PubMed", "id": "23998934", "url": "https://pubmed.ncbi.nlm.nih.gov/23998934" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BYI3-1", "protein_name": "Hyccin", "gene_name": "HYCC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYI3", "url": "https://www.uniprot.org/uniprotkb/Q9BYI3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23998934", "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": "H7N9 T-cell epitopes that mimic human sequences are less immunogenic and may induce Treg-mediated tolerance.", "journal": "Human vaccines & immunotherapeutics", "date": "2015", "authors": "Liu Rui, Moise Leonard, Tassone Ryan, Gutierrez Andres H, Terry Frances E, Sangare Kotou, Ardito Matthew T, Martin William D, De Groot Anne S", "reference": { "type": "PubMed", "id": "26090577", "url": "https://pubmed.ncbi.nlm.nih.gov/26090577" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BYI3-1", "protein_name": "Hyccin", "gene_name": "HYCC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCE0-1", "protein_name": "Ectopic P granules protein 5 homolog", "gene_name": "EPG5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q4G0N4-1", "protein_name": "NAD kinase 2, mitochondrial", "gene_name": "NADK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NI28-1", "protein_name": "Rho GTPase-activating protein 42", "gene_name": "ARHGAP42", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCH5-1", "protein_name": "Synaptotagmin-like protein 2", "gene_name": "SYTL2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYI3", "url": "https://www.uniprot.org/uniprotkb/Q9BYI3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26090577", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.", "journal": "Nature cell biology", "date": "2016", "authors": "Baskin JM, Wu X, Christiano R, Oh MS, Schauder CM, Gazzerro E, Messa M, Baldassari S, Assereto S, Biancheri R, Zara F, Minetti C, Raimondi A, Simons M, Walther TC, Reinisch KM, De Camilli P", "reference": { "type": "PubMed", "id": "26571211", "url": "https://pubmed.ncbi.nlm.nih.gov/26571211" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BYI3-1", "protein_name": "Hyccin", "gene_name": "HYCC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXS8-1", "protein_name": "Hyccin 2", "gene_name": "HYCC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8C729-1", "protein_name": "Hyccin 2", "gene_name": "Hycc2", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P42356-1", "protein_name": "Phosphatidylinositol 4-kinase alpha", "gene_name": "PI4KA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86TV6-1", "protein_name": "Tetratricopeptide repeat protein 7B", "gene_name": "TTC7B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6P9N1-1", "protein_name": "Hyccin", "gene_name": "Hycc1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9Y2G0-1", "protein_name": "Protein EFR3 homolog B", "gene_name": "EFR3B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14156-1", "protein_name": "Protein EFR3 homolog A", "gene_name": "EFR3A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYI3", "url": "https://www.uniprot.org/uniprotkb/Q9BYI3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26571211", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.", "journal": "Hum. Mutat.", "date": "2017", "authors": "Zhou XL, He LX, Yu LJ, Wang Y, Wang XJ, Wang ED, Yang T", "reference": { "type": "PubMed", "id": "28887846", "url": "https://pubmed.ncbi.nlm.nih.gov/28887846" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BYI3-1", "protein_name": "Hyccin", "gene_name": "HYCC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86SU0-1", "protein_name": "Immunoglobulin-like domain-containing receptor 1", "gene_name": "ILDR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P78508-1", "protein_name": "ATP-sensitive inward rectifier potassium channel 10", "gene_name": "KCNJ10", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96RQ3-1", "protein_name": "Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial", "gene_name": "MCCC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15046-1", "protein_name": "Lysine--tRNA ligase", "gene_name": "KARS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14055-1", "protein_name": "Collagen alpha-2(IX) chain", "gene_name": "COL9A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02458-2", "protein_name": "Collagen alpha-1(II) chain", "gene_name": "COL2A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H251-1", "protein_name": "Cadherin-23", "gene_name": "CDH23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13402-1", "protein_name": "Unconventional myosin-VIIa", "gene_name": "MYO7A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60733-1", "protein_name": "85/88 kDa calcium-independent phospholipase A2", "gene_name": "PLA2G6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYI3", "url": "https://www.uniprot.org/uniprotkb/Q9BYI3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 346, "end_pos": 346, "sequence_org": "D", "sequence_mut": "R", "comment": "Induces protein aggregation. Releases from the subunit complex.", "evidence": [ { "database": "UniProtKB", "id": "Q15046", "url": "https://www.uniprot.org/uniprotkb/Q15046" }, { "database": "PubMed", "id": "28887846", "url": "https://pubmed.ncbi.nlm.nih.gov/28887846" } ], "uniprot_canonical_ac": "Q15046-1" } ], "snv": [ { "evidence": [ { "id": "rs1555512658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555512658" }, { "id": "rs1555512658", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555512658" }, { "id": "28887846", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/28887846" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 505, "end_pos": 505, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDP->NDS).", "chr_id": "16", "chr_pos": "75629453", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P505", "keywords": [ "ebi", "germline" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.10.000.100", "uniprot_canonical_ac": "Q15046-1" } ], "record_id": "pubmed.28887846", "abstract": "", "glycosylation": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 10 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "TTC7 and Hyccin Regulate Neuronal Abeta42 Accumulation and its Associated Neural Deficits in Abeta42-Expressing Drosophila.", "journal": "Journal of Alzheimer's disease : JAD", "date": "2018", "authors": "Sun M, Zhao Y, Han M, Zhang B, Zhang X, Zhang Q, Lim NK, Wang WA, Huang FD", "reference": { "type": "PubMed", "id": "30103315", "url": "https://pubmed.ncbi.nlm.nih.gov/30103315" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BYI3-1", "protein_name": "Hyccin", "gene_name": "HYCC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYI3", "url": "https://www.uniprot.org/uniprotkb/Q9BYI3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30103315", "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": "CirRNA circFAM126A Exerts Oncogenic Functions in NSCLC to Upregulate IRS2.", "journal": "Biochemical genetics", "date": "2022-12", "authors": "Wang Yujing, Ai Dehui, Li Shaoxiong", "reference": { "type": "PubMed", "id": "35397054", "url": "https://pubmed.ncbi.nlm.nih.gov/35397054" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BYI3-1", "protein_name": "Hyccin", "gene_name": "HYCC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BYI3", "url": "https://www.uniprot.org/uniprotkb/Q9BYI3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35397054", "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": "Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort.", "journal": "Genes and immunity", "date": "2008", "authors": "Roberts RL, Hollis-Moffatt JE, Gearry RB, Kennedy MA, Barclay ML, Merriman TR", "reference": { "type": "PubMed", "id": "18580884", "url": "https://pubmed.ncbi.nlm.nih.gov/18580884" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6ZTR7-1", "protein_name": "CBY1-interacting BAR domain-containing protein 2", "gene_name": "CIBAR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTR7", "url": "https://www.uniprot.org/uniprotkb/Q6ZTR7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18580884", "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": "rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population.", "journal": "The American journal of gastroenterology", "date": "2009", "authors": "Glas J, Seiderer J, Pasciuto G, Tillack C, Diegelmann J, Pfennig S, Konrad A, Schmechel S, Wetzke M, Torok HP, Stallhofer J, Jurgens M, Griga T, Klein W, Epplen JT, Schiemann U, Mussack T, Lohse P, Goke B, Ochsenkuhn T, Folwaczny M, Muller-Myhsok B, Brand S", "reference": { "type": "PubMed", "id": "19262523", "url": "https://pubmed.ncbi.nlm.nih.gov/19262523" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6ZTR7-1", "protein_name": "CBY1-interacting BAR domain-containing protein 2", "gene_name": "CIBAR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTR7", "url": "https://www.uniprot.org/uniprotkb/Q6ZTR7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19262523", "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": "NELL1, NCF4, and FAM92B genes are not major susceptibility genes for Crohn's disease in Canadian children and young adults.", "journal": "Inflammatory bowel diseases", "date": "2012", "authors": "Amre DK, Mack DR, Israel D, Krupoves A, Costea I, Lambrette P, Grimard G, Dong J, Levy E", "reference": { "type": "PubMed", "id": "21472827", "url": "https://pubmed.ncbi.nlm.nih.gov/21472827" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6ZTR7-1", "protein_name": "CBY1-interacting BAR domain-containing protein 2", "gene_name": "CIBAR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTR7", "url": "https://www.uniprot.org/uniprotkb/Q6ZTR7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21472827", "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": "BAR Domain-Containing FAM92 Proteins Interact with Chibby1 To Facilitate Ciliogenesis.", "journal": "Molecular and cellular biology", "date": "2016", "authors": "Li FQ, Chen X, Fisher C, Siller SS, Zelikman K, Kuriyama R, Takemaru KI", "reference": { "type": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6ZTR7-1", "protein_name": "CBY1-interacting BAR domain-containing protein 2", "gene_name": "CIBAR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3V2J0-1", "protein_name": "CBY1-interacting BAR domain-containing protein 2", "gene_name": "Cibar2", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q8BP22-1", "protein_name": "CBY1-interacting BAR domain-containing protein 1", "gene_name": "Cibar1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "A1XBS5-1", "protein_name": "CBY1-interacting BAR domain-containing protein 1", "gene_name": "CIBAR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9D1C2-1", "protein_name": "Protein chibby homolog 1", "gene_name": "Cby1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9Y3M2-1", "protein_name": "Protein chibby homolog 1", "gene_name": "CBY1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTR7", "url": "https://www.uniprot.org/uniprotkb/Q6ZTR7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 105, "end_pos": 105, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-108; E-112; E-130; E-132 and E-134.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZTR7", "url": "https://www.uniprot.org/uniprotkb/Q6ZTR7" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "Q6ZTR7-1" }, { "start_pos": 108, "end_pos": 108, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-105; E-112; E-130; E-132 and E-134.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZTR7", "url": "https://www.uniprot.org/uniprotkb/Q6ZTR7" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "Q6ZTR7-1" }, { "start_pos": 112, "end_pos": 112, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-105; E-108; E-130; E-132 and E-134.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZTR7", "url": "https://www.uniprot.org/uniprotkb/Q6ZTR7" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "Q6ZTR7-1" }, { "start_pos": 130, "end_pos": 130, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-105; E-108; E-112; E-132 and E-134.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZTR7", "url": "https://www.uniprot.org/uniprotkb/Q6ZTR7" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "Q6ZTR7-1" }, { "start_pos": 132, "end_pos": 132, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-105; E-108; E-112; E-130 and E-134.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZTR7", "url": "https://www.uniprot.org/uniprotkb/Q6ZTR7" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "Q6ZTR7-1" }, { "start_pos": 134, "end_pos": 134, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-105; E-108; E-1112; E-130 and E-132.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZTR7", "url": "https://www.uniprot.org/uniprotkb/Q6ZTR7" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "Q6ZTR7-1" }, { "start_pos": 107, "end_pos": 107, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-110; E-114; E-132; E-134 and E-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprotkb/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "A1XBS5-1" }, { "start_pos": 110, "end_pos": 110, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107;E-114; E-132; E-134 and E-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprotkb/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "A1XBS5-1" }, { "start_pos": 114, "end_pos": 114, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-132; E-134 and E-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprotkb/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "A1XBS5-1" }, { "start_pos": 132, "end_pos": 132, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-134 and E-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprotkb/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "A1XBS5-1" }, { "start_pos": 134, "end_pos": 134, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-132 and E-136.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprotkb/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "A1XBS5-1" }, { "start_pos": 136, "end_pos": 136, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-132 and E-134.", "evidence": [ { "database": "UniProtKB", "id": "A1XBS5", "url": "https://www.uniprot.org/uniprotkb/A1XBS5" }, { "database": "PubMed", "id": "27528616", "url": "https://pubmed.ncbi.nlm.nih.gov/27528616" } ], "uniprot_canonical_ac": "A1XBS5-1" } ], "record_id": "pubmed.27528616", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of novel variants of the flavin-containing monooxygenase gene family in African Americans.", "journal": "Drug Metab. Dispos.", "date": "2003", "authors": "Furnes B, Feng J, Sommer SS, Schlenk D", "reference": { "type": "PubMed", "id": "12527699", "url": "https://pubmed.ncbi.nlm.nih.gov/12527699" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49326-1", "protein_name": "Flavin-containing monooxygenase 5", "gene_name": "FMO5", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60774-1", "protein_name": "Putative dimethylaniline monooxygenase [N-oxide-forming] 6", "gene_name": "FMO6P", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31513-1", "protein_name": "Flavin-containing monooxygenase 3", "gene_name": "FMO3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01740-1", "protein_name": "Flavin-containing monooxygenase 1", "gene_name": "FMO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99518-1", "protein_name": "Flavin-containing monooxygenase 2", "gene_name": "FMO2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31512-1", "protein_name": "Dimethylaniline monooxygenase [N-oxide-forming] 4", "gene_name": "FMO4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49326", "url": "https://www.uniprot.org/uniprotkb/P49326" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12527699", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 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 Baeyer-Villiger oxidation specifically catalyzed by human flavin-containing monooxygenase 5.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2011-01", "authors": "Lai W George, Farah Nadia, Moniz George A, Wong Y Nancy", "reference": { "type": "PubMed", "id": "20947616", "url": "https://pubmed.ncbi.nlm.nih.gov/20947616" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49326-1", "protein_name": "Flavin-containing monooxygenase 5", "gene_name": "FMO5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49326", "url": "https://www.uniprot.org/uniprotkb/P49326" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20947616", "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": "Biocatalytic Characterization of Human FMO5: Unearthing Baeyer-Villiger Reactions in Humans.", "journal": "ACS chemical biology", "date": "2016", "authors": "Fiorentini F, Geier M, Binda C, Winkler M, Faber K, Hall M, Mattevi A", "reference": { "type": "PubMed", "id": "26771671", "url": "https://pubmed.ncbi.nlm.nih.gov/26771671" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49326-1", "protein_name": "Flavin-containing monooxygenase 5", "gene_name": "FMO5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49326", "url": "https://www.uniprot.org/uniprotkb/P49326" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26771671", "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": "Quantification of Flavin-containing Monooxygenases 1, 3, and 5 in Human Liver Microsomes by UPLC-MRM-Based Targeted Quantitative Proteomics and Its Application to the Study of Ontogeny.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2016", "authors": "Chen Y, Zane NR, Thakker DR, Wang MZ", "reference": { "type": "PubMed", "id": "26839369", "url": "https://pubmed.ncbi.nlm.nih.gov/26839369" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49326-1", "protein_name": "Flavin-containing monooxygenase 5", "gene_name": "FMO5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49326", "url": "https://www.uniprot.org/uniprotkb/P49326" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26839369", "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": "Baeyer-Villiger Monooxygenase FMO5 as Entry Point in Drug Metabolism.", "journal": "ACS chemical biology", "date": "2017", "authors": "Fiorentini F, Romero E, Fraaije MW, Faber K, Hall M, Mattevi A", "reference": { "type": "PubMed", "id": "28783300", "url": "https://pubmed.ncbi.nlm.nih.gov/28783300" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49326-1", "protein_name": "Flavin-containing monooxygenase 5", "gene_name": "FMO5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49326", "url": "https://www.uniprot.org/uniprotkb/P49326" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28783300", "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": "Characterization of flavin-containing monooxygenase 5 (FMO5) cloned from human and guinea pig: evidence that the unique catalytic properties of FMO5 are not confined to the rabbit ortholog.", "journal": "Archives of biochemistry and biophysics", "date": "1995-02-20", "authors": "Overby L H, Buckpitt A R, Lawton M P, Atta-Asafo-Adjei E, Schulze J, Philpot R M", "reference": { "type": "PubMed", "id": "7872795", "url": "https://pubmed.ncbi.nlm.nih.gov/7872795" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49326-1", "protein_name": "Flavin-containing monooxygenase 5", "gene_name": "FMO5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49326", "url": "https://www.uniprot.org/uniprotkb/P49326" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7872795", "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 human homolog of yeast Est1 associates with telomerase and uncaps chromosome ends when overexpressed.", "journal": "Current biology : CB", "date": "2003", "authors": "Reichenbach P, Hoss M, Azzalin CM, Nabholz M, Bucher P, Lingner J", "reference": { "type": "PubMed", "id": "12676087", "url": "https://pubmed.ncbi.nlm.nih.gov/12676087" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86US8-1", "protein_name": "Telomerase-binding protein EST1A", "gene_name": "SMG6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86US8", "url": "https://www.uniprot.org/uniprotkb/Q86US8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12676087", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Crystal structure of the PIN domain of human telomerase-associated protein EST1A.", "journal": "Proteins", "date": "2007", "authors": "Takeshita Daijiro, Zenno Shuhei, Lee Woo Cheol, Saigo Kaoru, Tanokura Masaru", "reference": { "type": "PubMed", "id": "17557331", "url": "https://pubmed.ncbi.nlm.nih.gov/17557331" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86US8-1", "protein_name": "Telomerase-binding protein EST1A", "gene_name": "SMG6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86US8", "url": "https://www.uniprot.org/uniprotkb/Q86US8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17557331", "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": "Readthrough of stop codons under limiting ABCE1 concentration involves frameshifting and inhibits nonsense-mediated mRNA decay.", "journal": "Nucleic acids research", "date": "2020", "authors": "Annibaldis G, Domanski M, Dreos R, Contu L, Carl S, Klay N, Muhlemann O", "reference": { "type": "PubMed", "id": "32941650", "url": "https://pubmed.ncbi.nlm.nih.gov/32941650" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86US8-1", "protein_name": "Telomerase-binding protein EST1A", "gene_name": "SMG6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86US8", "url": "https://www.uniprot.org/uniprotkb/Q86US8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32941650", "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": "CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway.", "journal": "Nature communications", "date": "2022", "authors": "Sanderlin EJ, Keenan MM, Mense M, Revenko AS, Monia BP, Guo S, Huang L", "reference": { "type": "PubMed", "id": "35487895", "url": "https://pubmed.ncbi.nlm.nih.gov/35487895" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86US8-1", "protein_name": "Telomerase-binding protein EST1A", "gene_name": "SMG6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86US8", "url": "https://www.uniprot.org/uniprotkb/Q86US8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35487895", "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": "Mechanism of circRNA_SMG6 mediating lung macrophage ECM degradation via miR-570-3p in microplastics-induced emphysema.", "journal": "Environment international", "date": "2024-05", "authors": "Sun Xiaoxue, Xiao Tian, Qin Junjie, Song Yan, Lu Kuikui, Ding Ruoheng, Shi Weiqing, Bian Qian", "reference": { "type": "PubMed", "id": "38685156", "url": "https://pubmed.ncbi.nlm.nih.gov/38685156" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86US8-1", "protein_name": "Telomerase-binding protein EST1A", "gene_name": "SMG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "D4A589-1", "protein_name": "Telomerase-binding protein EST1A", "gene_name": "Smg6", "tax_name": "Rat" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86US8", "url": "https://www.uniprot.org/uniprotkb/Q86US8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38685156", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "UPF1 helicase orchestrates mutually exclusive interactions with the SMG6 endonuclease and UPF2.", "journal": "Nucleic acids research", "date": "2024-05-06", "authors": "Langer Lukas M, Kurscheidt Katharina, Basquin J\u00e9r\u00f4me, Bonneau Fabien, Iermak Iuliia, Basquin Claire, Conti Elena", "reference": { "type": "PubMed", "id": "38709891", "url": "https://pubmed.ncbi.nlm.nih.gov/38709891" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86US8-1", "protein_name": "Telomerase-binding protein EST1A", "gene_name": "SMG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HAU5-1", "protein_name": "Regulator of nonsense transcripts 2", "gene_name": "UPF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92900-1", "protein_name": "Regulator of nonsense transcripts 1", "gene_name": "UPF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86US8", "url": "https://www.uniprot.org/uniprotkb/Q86US8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38709891", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A new subfamily of structurally related human F-box proteins.", "journal": "Gene", "date": "2002", "authors": "Ilyin GP, Serandour AL, Pigeon C, Rialland M, Glaise D, Guguen-Guillouzo C", "reference": { "type": "PubMed", "id": "12383498", "url": "https://pubmed.ncbi.nlm.nih.gov/12383498" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NI29-1", "protein_name": "F-box only protein 27", "gene_name": "FBXO27", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q923V4-1", "protein_name": "F-box only protein 6", "gene_name": "Fbxo6", "tax_name": "Rat" }, { "uniprot_canonical_ac": "Q96EF6-1", "protein_name": "F-box only protein 17", "gene_name": "FBXO17", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H4M3-1", "protein_name": "F-box only protein 44", "gene_name": "FBXO44", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NI29", "url": "https://www.uniprot.org/uniprotkb/Q8NI29" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12383498", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Ubiquitination of exposed glycoproteins by SCF(FBXO27) directs damaged lysosomes for autophagy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2017", "authors": "Yoshida Y, Yasuda S, Fujita T, Hamasaki M, Murakami A, Kawawaki J, Iwai K, Saeki Y, Yoshimori T, Matsuda N, Tanaka K", "reference": { "type": "PubMed", "id": "28743755", "url": "https://pubmed.ncbi.nlm.nih.gov/28743755" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NI29-1", "protein_name": "F-box only protein 27", "gene_name": "FBXO27", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NI29", "url": "https://www.uniprot.org/uniprotkb/Q8NI29" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28743755", "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": "Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy.", "journal": "Am. J. Med. Genet.", "date": "2000", "authors": "Saito K, Osawa M, Wang Z P, Ikeya K, Fukuyama Y, Kondo-Iida E, Toda T, Ohashi H, Kurosawa K, Wakai S, Kaneko K", "reference": { "type": "PubMed", "id": "10817652", "url": "https://pubmed.ncbi.nlm.nih.gov/10817652" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10817652", "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": "Neuronal expression of the fukutin gene.", "journal": "Human molecular genetics", "date": "2000-12-12", "authors": "Sasaki J, Ishikawa K, Kobayashi K, Kondo-Iida E, Fukayama M, Mizusawa H, Takashima S, Sakakihara Y, Nakamura Y, Toda T", "reference": { "type": "PubMed", "id": "11115853", "url": "https://pubmed.ncbi.nlm.nih.gov/11115853" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11115853", "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": "Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.", "journal": "FEBS Lett.", "date": "2001", "authors": "Kobayashi K, Sasaki J, Kondo-Iida E, Fukuda Y, Kinoshita M, Sunada Y, Nakamura Y, Toda T", "reference": { "type": "PubMed", "id": "11165248", "url": "https://pubmed.ncbi.nlm.nih.gov/11165248" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11165248", "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": "Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.", "journal": "Neurology", "date": "2001", "authors": "Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, Arahata K", "reference": { "type": "PubMed", "id": "11445638", "url": "https://pubmed.ncbi.nlm.nih.gov/11445638" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11445638", "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 of the fukutin gene in a non-Japanese patient.", "journal": "Ann. Neurol.", "date": "2003", "authors": "Silan Fatma, Yoshioka Mieko, Kobayashi Kazuhiro, Simsek Enver, Tunc Murat, Alper Murat, Cam Meryem, Guven Aysel, Fukuda Yoji, Kinoshita Moritoshi, Kocabay Kenan, Toda Tatsushi", "reference": { "type": "PubMed", "id": "12601708", "url": "https://pubmed.ncbi.nlm.nih.gov/12601708" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs587777748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777748" }, { "id": "12601708", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12601708" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 152, "end_pos": 152, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105604299", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S152", "disease": [ { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "O75072-1" } ], "record_id": "pubmed.12601708", "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": "Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.", "journal": "Annals of neurology", "date": "2006", "authors": "Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, Ogino M, Takada F, Eriguchi M, Kotooka N, Campbell KP, Osawa M, Nishino I", "reference": { "type": "PubMed", "id": "17036286", "url": "https://pubmed.ncbi.nlm.nih.gov/17036286" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119463994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119463994" }, { "id": "rs119463994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119463994" }, { "id": "17036286", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17036286" } ], "glycoeffect": [], "start_pos": 179, "end_pos": 179, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105604381", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R179", "disease": [ { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O75072-1" }, { "evidence": [ { "id": "rs119463993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119463993" }, { "id": "rs119463993", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs119463993" }, { "id": "17036286", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17036286" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105619962", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q358", "disease": [ { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000100000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "O75072-1" } ], "record_id": "pubmed.17036286", "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": "Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.", "journal": "Brain : a journal of neurology", "date": "2007", "authors": "Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F", "reference": { "type": "PubMed", "id": "17878207", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZA1-1", "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "gene_name": "POMGNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKY4-1", "protein_name": "Protein O-mannosyl-transferase 2", "gene_name": "POMT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6A1-1", "protein_name": "Protein O-mannosyl-transferase 1", "gene_name": "POMT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119463995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119463995" }, { "id": "rs119463995", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119463995#frequency_tab" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" }, { "id": "19342235", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19342235" } ], "glycoeffect": [], "start_pos": 114, "end_pos": 114, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105601319", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A114", "disease": [ { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "FKTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD-FKTN related", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "MDDGC4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012699", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699" }, { "id": "611588", "database": "MIM", "url": "https://www.omim.org/entry/611588" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110296" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "O75072-1" }, { "evidence": [ { "id": "O75072", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O75072" }, { "id": "rs267606814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606814" }, { "id": "rs267606814", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606814" }, { "id": "rs267606814", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267606814#frequency_tab" }, { "id": "rs267606814", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606814" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" }, { "id": "rs267606814", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs267606814" } ], "glycoeffect": [], "start_pos": 307, "end_pos": 307, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, collaborator primers).", "chr_id": "9", "chr_pos": "105617967", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R307", "disease": [ { "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:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "FKTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD-FKTN related", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "MDDGC4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012699", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699" }, { "id": "611588", "database": "MIM", "url": "https://www.omim.org/entry/611588" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110296" } ] }, { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] }, { "disease_id": "DOID:0112379", "recommended_name": { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "muscular dystrophy-dystroglycanopathy type B4", "description": "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." }, "synonyms": [ { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "MDDGB4", "description": "" }, { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "congenital muscular dystrophy FKTN-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "congenital muscular dystrophy-FKTN related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "MDDGB4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4", "description": "" }, { "id": "MIM:613152", "resource": "MIM", "url": "https://www.omim.org/entry/613152", "name": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4", "description": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4" } ], "unlinked_id_list": [], "evidence": [ { "id": "613152", "database": "MIM", "url": "https://www.omim.org/entry/613152" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "0112379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112379" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O75072-1" }, { "evidence": [ { "id": "Q8WZA1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WZA1" }, { "id": "rs267606961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606961" }, { "id": "rs267606961", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267606961" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" }, { "id": "rs267606961", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs267606961" } ], "glycoeffect": [], "start_pos": 475, "end_pos": 475, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "1", "chr_pos": "46192213", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W475", "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:0111236", "recommended_name": { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "congenital muscular dystrophy-dystroglycanopathy type A3", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1." }, "synonyms": [ { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related", "description": "" }, { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "MDDGA3", "description": "" }, { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscle-eye-brain-POMGNT1 related", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "MDDGA3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3", "description": "" }, { "id": "MIM:253280", "resource": "MIM", "url": "https://www.omim.org/entry/253280", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3" } ], "unlinked_id_list": [], "evidence": [ { "id": "253280", "database": "MIM", "url": "https://www.omim.org/entry/253280" }, { "id": "POMGNT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details" }, { "id": "55624", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/55624#disease" }, { "id": "0111236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111236" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000000000001000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q8WZA1-1" }, { "evidence": [ { "id": "rs267606971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606971" }, { "id": "rs267606971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267606971#frequency_tab" }, { "id": "rs267606971", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606971" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" }, { "id": "17923109", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17923109" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 184, "end_pos": 184, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "77302940", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T184", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110298", "recommended_name": { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "LGMD2N", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD-POMT2 related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "MDDGC2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "POMT2 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "limb-girdle muscular dystrophy type 2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2", "description": "" }, { "id": "MIM:613158", "resource": "MIM", "url": "https://www.omim.org/entry/613158", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C2", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613158", "database": "MIM", "url": "https://www.omim.org/entry/613158" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0110298", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110298" } ] }, { "disease_id": "DOID:0111240", "recommended_name": { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy type A2", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3." }, "synonyms": [ { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "MDDGA2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "MDDGA2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscle-eye-brain-POMT2 related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2", "description": "" }, { "id": "MIM:613150", "resource": "MIM", "url": "https://www.omim.org/entry/613150", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613150", "database": "MIM", "url": "https://www.omim.org/entry/613150" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0111240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111240" } ] }, { "disease_id": "DOID:0112380", "recommended_name": { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "muscular dystrophy-dystroglycanopathy type B2", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "MDDGB2", "description": "" }, { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "congenital muscular dystrophy POMT2-related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2", "description": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-POMT2 related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "MDDGB2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2", "description": "" }, { "id": "MIM:613156", "resource": "MIM", "url": "https://www.omim.org/entry/613156", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613156", "database": "MIM", "url": "https://www.omim.org/entry/613156" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0112380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112380" } ] } ], "filter_code": "000000000000000010000.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "Q9UKY4-1" }, { "evidence": [ { "id": "rs267606972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606972" }, { "id": "rs267606972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267606972#frequency_tab" }, { "id": "rs267606972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606972" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" } ], "glycoeffect": [], "start_pos": 198, "end_pos": 198, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "77302898", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I198", "disease": [ { "disease_id": "DOID:0110298", "recommended_name": { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "LGMD2N", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD-POMT2 related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "MDDGC2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "POMT2 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "limb-girdle muscular dystrophy type 2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2", "description": "" }, { "id": "MIM:613158", "resource": "MIM", "url": "https://www.omim.org/entry/613158", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C2", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613158", "database": "MIM", "url": "https://www.omim.org/entry/613158" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0110298", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110298" } ] }, { "disease_id": "DOID:0111240", "recommended_name": { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy type A2", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3." }, "synonyms": [ { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "MDDGA2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "MDDGA2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscle-eye-brain-POMT2 related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2", "description": "" }, { "id": "MIM:613150", "resource": "MIM", "url": "https://www.omim.org/entry/613150", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613150", "database": "MIM", "url": "https://www.omim.org/entry/613150" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0111240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111240" } ] }, { "disease_id": "DOID:0112380", "recommended_name": { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "muscular dystrophy-dystroglycanopathy type B2", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "MDDGB2", "description": "" }, { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "congenital muscular dystrophy POMT2-related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2", "description": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-POMT2 related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "MDDGB2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2", "description": "" }, { "id": "MIM:613156", "resource": "MIM", "url": "https://www.omim.org/entry/613156", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613156", "database": "MIM", "url": "https://www.omim.org/entry/613156" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0112380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112380" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9UKY4-1" }, { "evidence": [ { "id": "rs267606965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606965" }, { "id": "rs267606965", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267606965" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" } ], "glycoeffect": [], "start_pos": 373, "end_pos": 373, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "77291380", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V373", "disease": [ { "disease_id": "DOID:0111240", "recommended_name": { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy type A2", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3." }, "synonyms": [ { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "MDDGA2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "MDDGA2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscle-eye-brain-POMT2 related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2", "description": "" }, { "id": "MIM:613150", "resource": "MIM", "url": "https://www.omim.org/entry/613150", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613150", "database": "MIM", "url": "https://www.omim.org/entry/613150" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0111240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111240" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000010.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9UKY4-1" }, { "evidence": [ { "id": "rs190285831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190285831" }, { "id": "rs190285831", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs190285831" }, { "id": "rs190285831", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190285831" }, { "id": "rs190285831", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs190285831#frequency_tab" }, { "id": "rs190285831", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs190285831" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" } ], "glycoeffect": [], "start_pos": 413, "end_pos": 413, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "77288777", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R413", "disease": [ { "disease_id": "DOID:0110298", "recommended_name": { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "LGMD2N", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD-POMT2 related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "MDDGC2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "POMT2 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "limb-girdle muscular dystrophy type 2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2", "description": "" }, { "id": "MIM:613158", "resource": "MIM", "url": "https://www.omim.org/entry/613158", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C2", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613158", "database": "MIM", "url": "https://www.omim.org/entry/613158" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0110298", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110298" } ] }, { "disease_id": "DOID:0111240", "recommended_name": { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy type A2", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3." }, "synonyms": [ { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "MDDGA2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "MDDGA2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscle-eye-brain-POMT2 related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2", "description": "" }, { "id": "MIM:613150", "resource": "MIM", "url": "https://www.omim.org/entry/613150", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613150", "database": "MIM", "url": "https://www.omim.org/entry/613150" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0111240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111240" } ] }, { "disease_id": "DOID:0112380", "recommended_name": { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "muscular dystrophy-dystroglycanopathy type B2", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "MDDGB2", "description": "" }, { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "congenital muscular dystrophy POMT2-related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2", "description": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-POMT2 related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "MDDGB2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2", "description": "" }, { "id": "MIM:613156", "resource": "MIM", "url": "https://www.omim.org/entry/613156", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613156", "database": "MIM", "url": "https://www.omim.org/entry/613156" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0112380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112380" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9UKY4-1" }, { "evidence": [ { "id": "rs200198778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200198778" }, { "id": "rs200198778", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200198778" }, { "id": "rs200198778", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200198778#frequency_tab" }, { "id": "rs200198778", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200198778" }, { "id": "17634419", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17634419" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" }, { "id": "19138766", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19138766" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 666, "end_pos": 666, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "77278764", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y666", "disease": [ { "disease_id": "DOID:0110298", "recommended_name": { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "LGMD2N", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD-POMT2 related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "MDDGC2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "POMT2 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "limb-girdle muscular dystrophy type 2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2", "description": "" }, { "id": "MIM:613158", "resource": "MIM", "url": "https://www.omim.org/entry/613158", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C2", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613158", "database": "MIM", "url": "https://www.omim.org/entry/613158" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0110298", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110298" } ] }, { "disease_id": "DOID:0111240", "recommended_name": { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy type A2", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3." }, "synonyms": [ { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "MDDGA2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "MDDGA2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscle-eye-brain-POMT2 related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2", "description": "" }, { "id": "MIM:613150", "resource": "MIM", "url": "https://www.omim.org/entry/613150", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613150", "database": "MIM", "url": "https://www.omim.org/entry/613150" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0111240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111240" } ] }, { "disease_id": "DOID:0112380", "recommended_name": { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "muscular dystrophy-dystroglycanopathy type B2", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "MDDGB2", "description": "" }, { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "congenital muscular dystrophy POMT2-related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2", "description": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-POMT2 related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "MDDGB2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2", "description": "" }, { "id": "MIM:613156", "resource": "MIM", "url": "https://www.omim.org/entry/613156", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613156", "database": "MIM", "url": "https://www.omim.org/entry/613156" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0112380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112380" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "Q9UKY4-1" }, { "evidence": [ { "id": "rs267606967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606967" }, { "id": "rs267606967", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267606967" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" } ], "glycoeffect": [], "start_pos": 748, "end_pos": 748, "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "77277386", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W748", "disease": [ { "disease_id": "DOID:0110298", "recommended_name": { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "LGMD2N", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD-POMT2 related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "MDDGC2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "POMT2 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "limb-girdle muscular dystrophy type 2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2", "description": "" }, { "id": "MIM:613158", "resource": "MIM", "url": "https://www.omim.org/entry/613158", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C2", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613158", "database": "MIM", "url": "https://www.omim.org/entry/613158" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0110298", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110298" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000001000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9UKY4-1" }, { "evidence": [ { "id": "rs587777819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777819" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" }, { "id": "rs1950284130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1950284130" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 727, "end_pos": 727, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131523039TC", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S727", "disease": [ { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "muscular dystrophy-dystroglycanopathy type B", "description": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." }, "synonyms": [ { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "MDDGB", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "613155", "database": "MIM", "url": "https://www.omim.org/entry/613155" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "Q9Y6A1-1" } ], "record_id": "pubmed.17878207", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.", "journal": "Clinical genetics", "date": "2008", "authors": "Cotarelo RP, Valero MC, Prados B, Pena A, Rodriguez L, Fano O, Marco JJ, Martinez-Frias ML, Cruces J", "reference": { "type": "PubMed", "id": "18177472", "url": "https://pubmed.ncbi.nlm.nih.gov/18177472" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs34006675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34006675" }, { "id": "rs34006675", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34006675" }, { "id": "rs34006675", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34006675" }, { "id": "rs34006675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs34006675#frequency_tab" }, { "id": "rs34006675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs34006675" }, { "id": "18177472", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18177472" }, { "id": "21228398", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21228398" }, { "id": "rs34006675", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34006675" } ], "glycoeffect": [], "start_pos": 125, "end_pos": 125, "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105604218", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G125", "disease": [ { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O75072-1" }, { "evidence": [ { "id": "rs1588222870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1588222870" }, { "id": "rs398123555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123555" }, { "id": "10545611", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10545611" }, { "id": "17044012", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17044012" }, { "id": "18177472", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18177472" } ], "glycoeffect": [], "start_pos": 390, "end_pos": 390, "sequence_org": "F", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105620056_105620057", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F390", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "FKTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD-FKTN related", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "MDDGC4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012699", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699" }, { "id": "611588", "database": "MIM", "url": "https://www.omim.org/entry/611588" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110296" } ] }, { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0112379", "recommended_name": { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "muscular dystrophy-dystroglycanopathy type B4", "description": "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." }, "synonyms": [ { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "MDDGB4", "description": "" }, { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "congenital muscular dystrophy FKTN-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "congenital muscular dystrophy-FKTN related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "MDDGB4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4", "description": "" }, { "id": "MIM:613152", "resource": "MIM", "url": "https://www.omim.org/entry/613152", "name": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4", "description": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4" } ], "unlinked_id_list": [], "evidence": [ { "id": "613152", "database": "MIM", "url": "https://www.omim.org/entry/613152" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "0112379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112379" } ] } ], "filter_code": "000000000000010000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "O75072-1" } ], "record_id": "pubmed.18177472", "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": "Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.", "journal": "Neuromuscular disorders : NMD", "date": "2009", "authors": "Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N", "reference": { "type": "PubMed", "id": "19179078", "url": "https://pubmed.ncbi.nlm.nih.gov/19179078" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119464997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119464997" }, { "id": "rs119464997", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119464997#frequency_tab" }, { "id": "rs119464997", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119464997" }, { "id": "19179078", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19179078" }, { "id": "22275357", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22275357" } ], "glycoeffect": [], "start_pos": 170, "end_pos": 170, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105604354", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A170", "disease": [ { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O75072-1" }, { "evidence": [ { "id": "rs119463992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119463992" }, { "id": "rs119463992", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119463992#frequency_tab" }, { "id": "rs119463992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119463992" }, { "id": "17044012", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17044012" }, { "id": "19179078", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19179078" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 307, "end_pos": 307, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105617968", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R307", "disease": [ { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "FKTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD-FKTN related", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "MDDGC4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012699", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699" }, { "id": "611588", "database": "MIM", "url": "https://www.omim.org/entry/611588" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110296" } ] }, { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] }, { "disease_id": "DOID:0112379", "recommended_name": { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "muscular dystrophy-dystroglycanopathy type B4", "description": "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." }, "synonyms": [ { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "MDDGB4", "description": "" }, { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "congenital muscular dystrophy FKTN-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "congenital muscular dystrophy-FKTN related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "MDDGB4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4", "description": "" }, { "id": "MIM:613152", "resource": "MIM", "url": "https://www.omim.org/entry/613152", "name": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4", "description": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4" } ], "unlinked_id_list": [], "evidence": [ { "id": "613152", "database": "MIM", "url": "https://www.omim.org/entry/613152" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "0112379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112379" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O75072-1" }, { "evidence": [ { "id": "rs119464998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119464998" }, { "id": "rs119464998", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119464998" }, { "id": "rs119464998", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119464998#frequency_tab" }, { "id": "rs119464998", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119464998" }, { "id": "19179078", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19179078" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 371, "end_pos": 371, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105620001", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y371", "disease": [ { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "FKTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD-FKTN related", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "MDDGC4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012699", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699" }, { "id": "611588", "database": "MIM", "url": "https://www.omim.org/entry/611588" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110296" } ] }, { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] }, { "disease_id": "DOID:0112379", "recommended_name": { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "muscular dystrophy-dystroglycanopathy type B4", "description": "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." }, "synonyms": [ { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "MDDGB4", "description": "" }, { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "congenital muscular dystrophy FKTN-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "congenital muscular dystrophy-FKTN related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "MDDGB4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4", "description": "" }, { "id": "MIM:613152", "resource": "MIM", "url": "https://www.omim.org/entry/613152", "name": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4", "description": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4" } ], "unlinked_id_list": [], "evidence": [ { "id": "613152", "database": "MIM", "url": "https://www.omim.org/entry/613152" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "0112379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112379" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "O75072-1" } ], "record_id": "pubmed.19179078", "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": "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.", "journal": "Neurology", "date": "2009", "authors": "Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E", "reference": { "type": "PubMed", "id": "19299310", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43505-1", "protein_name": "Beta-1,4-glucuronyltransferase 1", "gene_name": "B4GAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14118-1", "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZA1-1", "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "gene_name": "POMGNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95461-1", "protein_name": "Xylosyl- and glucuronyltransferase LARGE1", "gene_name": "LARGE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKY4-1", "protein_name": "Protein O-mannosyl-transferase 2", "gene_name": "POMT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6A1-1", "protein_name": "Protein O-mannosyl-transferase 1", "gene_name": "POMT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119463992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119463992" }, { "id": "rs119463992", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119463992#frequency_tab" }, { "id": "rs119463992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119463992" }, { "id": "17044012", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17044012" }, { "id": "19179078", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19179078" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 307, "end_pos": 307, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105617968", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R307", "disease": [ { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "FKTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD-FKTN related", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "MDDGC4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012699", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699" }, { "id": "611588", "database": "MIM", "url": "https://www.omim.org/entry/611588" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110296" } ] }, { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] }, { "disease_id": "DOID:0112379", "recommended_name": { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "muscular dystrophy-dystroglycanopathy type B4", "description": "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." }, "synonyms": [ { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "MDDGB4", "description": "" }, { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "congenital muscular dystrophy FKTN-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "congenital muscular dystrophy-FKTN related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "MDDGB4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4", "description": "" }, { "id": "MIM:613152", "resource": "MIM", "url": "https://www.omim.org/entry/613152", "name": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4", "description": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4" } ], "unlinked_id_list": [], "evidence": [ { "id": "613152", "database": "MIM", "url": "https://www.omim.org/entry/613152" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "0112379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112379" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O75072-1" }, { "evidence": [ { "id": "Q8WZA1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WZA1" }, { "id": "rs193919337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs193919337" }, { "id": "rs193919337", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs193919337#frequency_tab" }, { "id": "rs193919337", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs193919337" }, { "id": "12588800", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12588800" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" }, { "id": "26908613", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/26908613" }, { "id": "rs193919337", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs193919337" } ], "glycoeffect": [], "start_pos": 63, "end_pos": 63, "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "1", "chr_pos": "46197018", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R63", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "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:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0110292", "recommended_name": { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "autosomal recessive limb-girdle muscular dystrophy type 2O", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34." }, "synonyms": [ { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "LGMD2O", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "MDDGC3", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "autosomal recessive limb-girdle muscular dystrophy type 2O", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "LGMD-POMGNT1 related", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "LGMD2O", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "MDDGC3", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "POMGNT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "limb-girdle muscular dystrophy type 2O", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3", "description": "" }, { "id": "MIM:613157", "resource": "MIM", "url": "https://www.omim.org/entry/613157", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C3", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C3" } ], "unlinked_id_list": [], "evidence": [ { "id": "613157", "database": "MIM", "url": "https://www.omim.org/entry/613157" }, { "id": "POMGNT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details" }, { "id": "0110292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110292" } ] }, { "disease_id": "DOID:0111236", "recommended_name": { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "congenital muscular dystrophy-dystroglycanopathy type A3", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1." }, "synonyms": [ { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related", "description": "" }, { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "MDDGA3", "description": "" }, { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscle-eye-brain-POMGNT1 related", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "MDDGA3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3", "description": "" }, { "id": "MIM:253280", "resource": "MIM", "url": "https://www.omim.org/entry/253280", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3" } ], "unlinked_id_list": [], "evidence": [ { "id": "253280", "database": "MIM", "url": "https://www.omim.org/entry/253280" }, { "id": "POMGNT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details" }, { "id": "55624", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/55624#disease" }, { "id": "0111236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111236" } ] }, { "disease_id": "DOID:0112378", "recommended_name": { "id": "DOID:0112378", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112378", "name": "muscular dystrophy-dystroglycanopathy type B3", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1." }, "synonyms": [ { "id": "DOID:0112378", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112378", "name": "MDDGB3", "description": "" }, { "id": "DOID:0112378", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112378", "name": "congenital muscular dystrophy POMGNT1-related", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "congenital muscular dystrophy-POMGNT1 related", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "MDDGB3", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3", "description": "" }, { "id": "MIM:613151", "resource": "MIM", "url": "https://www.omim.org/entry/613151", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3" } ], "unlinked_id_list": [], "evidence": [ { "id": "613151", "database": "MIM", "url": "https://www.omim.org/entry/613151" }, { "id": "0112378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112378" } ] }, { "disease_id": "DOID:0061103", "recommended_name": { "id": "DOID:0061103", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0061103", "name": "retinitis pigmentosa 76", "description": "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34." }, "synonyms": [ { "id": "DOID:0061103", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0061103", "name": "RP76", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "retinitis pigmentosa 76", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene." }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "POMGNT1 retinitis pigmentosa", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "RP76", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "retinitis pigmentosa 76", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "retinitis pigmentosa 76; RP76", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "retinitis pigmentosa caused by mutation in POMGNT1", "description": "" }, { "id": "MONDO:0014929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014929", "name": "retinitis pigmentosa type 76", "description": "" }, { "id": "MIM:617123", "resource": "MIM", "url": "https://www.omim.org/entry/617123", "name": "Retinitis pigmentosa 76", "description": "Retinitis pigmentosa 76" } ], "unlinked_id_list": [], "evidence": [ { "id": "617123", "database": "MIM", "url": "https://www.omim.org/entry/617123" }, { "id": "POMGNT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details" }, { "id": "0061103", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061103" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q8WZA1-1" }, { "evidence": [ { "id": "rs267606962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606962" }, { "id": "rs267606962", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606962" }, { "id": "rs267606962", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267606962#frequency_tab" }, { "id": "rs267606962", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606962" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 605, "end_pos": 605, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "46189539", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R605", "disease": [ { "disease_id": "DOID:0110292", "recommended_name": { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "autosomal recessive limb-girdle muscular dystrophy type 2O", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34." }, "synonyms": [ { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "LGMD2O", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "MDDGC3", "description": "" }, { "id": "DOID:0110292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110292", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "autosomal recessive limb-girdle muscular dystrophy type 2O", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "LGMD-POMGNT1 related", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "LGMD2O", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "MDDGC3", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "POMGNT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "limb-girdle muscular dystrophy type 2O", "description": "" }, { "id": "MONDO:0013161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013161", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3", "description": "" }, { "id": "MIM:613157", "resource": "MIM", "url": "https://www.omim.org/entry/613157", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C3", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C3" } ], "unlinked_id_list": [], "evidence": [ { "id": "613157", "database": "MIM", "url": "https://www.omim.org/entry/613157" }, { "id": "POMGNT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details" }, { "id": "0110292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110292" } ] }, { "disease_id": "DOID:0111236", "recommended_name": { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "congenital muscular dystrophy-dystroglycanopathy type A3", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1." }, "synonyms": [ { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related", "description": "" }, { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "MDDGA3", "description": "" }, { "id": "DOID:0111236", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111236", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscle-eye-brain-POMGNT1 related", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "MDDGA3", "description": "" }, { "id": "MONDO:0009667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009667", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3", "description": "" }, { "id": "MIM:253280", "resource": "MIM", "url": "https://www.omim.org/entry/253280", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3" } ], "unlinked_id_list": [], "evidence": [ { "id": "253280", "database": "MIM", "url": "https://www.omim.org/entry/253280" }, { "id": "POMGNT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details" }, { "id": "55624", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/55624#disease" }, { "id": "0111236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111236" } ] }, { "disease_id": "DOID:0112378", "recommended_name": { "id": "DOID:0112378", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112378", "name": "muscular dystrophy-dystroglycanopathy type B3", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1." }, "synonyms": [ { "id": "DOID:0112378", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112378", "name": "MDDGB3", "description": "" }, { "id": "DOID:0112378", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112378", "name": "congenital muscular dystrophy POMGNT1-related", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "congenital muscular dystrophy-POMGNT1 related", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "MDDGB3", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3", "description": "" }, { "id": "MONDO:0013155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013155", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3", "description": "" }, { "id": "MIM:613151", "resource": "MIM", "url": "https://www.omim.org/entry/613151", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3" } ], "unlinked_id_list": [], "evidence": [ { "id": "613151", "database": "MIM", "url": "https://www.omim.org/entry/613151" }, { "id": "0112378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112378" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q8WZA1-1" }, { "evidence": [ { "id": "rs267607209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267607209" }, { "id": "rs267607209", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267607209#frequency_tab" }, { "id": "rs267607209", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267607209" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 495, "end_pos": 495, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "22", "chr_pos": "33304476", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W495", "disease": [ { "disease_id": "DOID:0111242", "recommended_name": { "id": "DOID:0111242", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111242", "name": "congenital muscular dystrophy-dystroglycanopathy type A6", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3." }, "synonyms": [ { "id": "DOID:0111242", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111242", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related", "description": "" }, { "id": "DOID:0111242", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111242", "name": "MDDGA6", "description": "" }, { "id": "DOID:0111242", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111242", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6", "description": "" }, { "id": "MONDO:0013158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013158", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6", "description": "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." }, { "id": "MONDO:0013158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013158", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6", "description": "" }, { "id": "MONDO:0013158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013158", "name": "MDDGA6", "description": "" }, { "id": "MONDO:0013158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013158", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6", "description": "" }, { "id": "MIM:613154", "resource": "MIM", "url": "https://www.omim.org/entry/613154", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6" } ], "unlinked_id_list": [], "evidence": [ { "id": "613154", "database": "MIM", "url": "https://www.omim.org/entry/613154" }, { "id": "LARGE1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/LARGE1/#!details" }, { "id": "0111242", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111242" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000001000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "O95461-1" }, { "evidence": [ { "id": "rs267606966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606966" }, { "id": "rs267606966", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606966" }, { "id": "rs267606966", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606966" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 246, "end_pos": 246, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "77301169", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G246", "disease": [ { "disease_id": "DOID:0112380", "recommended_name": { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "muscular dystrophy-dystroglycanopathy type B2", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "MDDGB2", "description": "" }, { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "congenital muscular dystrophy POMT2-related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2", "description": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-POMT2 related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "MDDGB2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2", "description": "" }, { "id": "MIM:613156", "resource": "MIM", "url": "https://www.omim.org/entry/613156", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613156", "database": "MIM", "url": "https://www.omim.org/entry/613156" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0112380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112380" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9UKY4-1" }, { "evidence": [ { "id": "Q9UKY4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UKY4" }, { "id": "rs267606970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606970" }, { "id": "rs267606970", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267606970#frequency_tab" }, { "id": "rs267606970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606970" }, { "id": "16701995", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16701995" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 353, "end_pos": 353, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "14", "chr_pos": "77296223", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G353", "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:0111240", "recommended_name": { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy type A2", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3." }, "synonyms": [ { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "MDDGA2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "MDDGA2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscle-eye-brain-POMT2 related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2", "description": "" }, { "id": "MIM:613150", "resource": "MIM", "url": "https://www.omim.org/entry/613150", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613150", "database": "MIM", "url": "https://www.omim.org/entry/613150" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0111240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111240" } ] }, { "disease_id": "DOID:0112380", "recommended_name": { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "muscular dystrophy-dystroglycanopathy type B2", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "MDDGB2", "description": "" }, { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "congenital muscular dystrophy POMT2-related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2", "description": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-POMT2 related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "MDDGB2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2", "description": "" }, { "id": "MIM:613156", "resource": "MIM", "url": "https://www.omim.org/entry/613156", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613156", "database": "MIM", "url": "https://www.omim.org/entry/613156" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0112380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112380" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9UKY4-1" }, { "evidence": [ { "id": "rs200198778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200198778" }, { "id": "rs200198778", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200198778" }, { "id": "rs200198778", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200198778#frequency_tab" }, { "id": "rs200198778", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200198778" }, { "id": "17634419", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17634419" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" }, { "id": "19138766", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19138766" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 666, "end_pos": 666, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "77278764", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y666", "disease": [ { "disease_id": "DOID:0110298", "recommended_name": { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "LGMD2N", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD-POMT2 related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "MDDGC2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "POMT2 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "limb-girdle muscular dystrophy type 2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2", "description": "" }, { "id": "MIM:613158", "resource": "MIM", "url": "https://www.omim.org/entry/613158", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C2", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613158", "database": "MIM", "url": "https://www.omim.org/entry/613158" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0110298", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110298" } ] }, { "disease_id": "DOID:0111240", "recommended_name": { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy type A2", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3." }, "synonyms": [ { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "MDDGA2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "MDDGA2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscle-eye-brain-POMT2 related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2", "description": "" }, { "id": "MIM:613150", "resource": "MIM", "url": "https://www.omim.org/entry/613150", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613150", "database": "MIM", "url": "https://www.omim.org/entry/613150" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0111240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111240" } ] }, { "disease_id": "DOID:0112380", "recommended_name": { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "muscular dystrophy-dystroglycanopathy type B2", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "MDDGB2", "description": "" }, { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "congenital muscular dystrophy POMT2-related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2", "description": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-POMT2 related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "MDDGB2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2", "description": "" }, { "id": "MIM:613156", "resource": "MIM", "url": "https://www.omim.org/entry/613156", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613156", "database": "MIM", "url": "https://www.omim.org/entry/613156" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0112380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112380" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "Q9UKY4-1" }, { "evidence": [ { "id": "rs267606969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606969" }, { "id": "rs267606969", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267606969" }, { "id": "16701995", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16701995" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 726, "end_pos": 726, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "77277452", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G726", "disease": [ { "disease_id": "DOID:0110298", "recommended_name": { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "LGMD2N", "description": "" }, { "id": "DOID:0110298", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110298", "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy type 2N", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD-POMT2 related", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "LGMD2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "MDDGC2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "POMT2 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "limb-girdle muscular dystrophy type 2N", "description": "" }, { "id": "MONDO:0013162", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013162", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2", "description": "" }, { "id": "MIM:613158", "resource": "MIM", "url": "https://www.omim.org/entry/613158", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C2", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613158", "database": "MIM", "url": "https://www.omim.org/entry/613158" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0110298", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110298" } ] }, { "disease_id": "DOID:0111240", "recommended_name": { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy type A2", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3." }, "synonyms": [ { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "MDDGA2", "description": "" }, { "id": "DOID:0111240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111240", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "MDDGA2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscle-eye-brain-POMT2 related", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2", "description": "" }, { "id": "MONDO:0013154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013154", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2", "description": "" }, { "id": "MIM:613150", "resource": "MIM", "url": "https://www.omim.org/entry/613150", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613150", "database": "MIM", "url": "https://www.omim.org/entry/613150" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0111240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111240" } ] }, { "disease_id": "DOID:0112380", "recommended_name": { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "muscular dystrophy-dystroglycanopathy type B2", "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3." }, "synonyms": [ { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "MDDGB2", "description": "" }, { "id": "DOID:0112380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112380", "name": "congenital muscular dystrophy POMT2-related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2", "description": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-POMT2 related", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "MDDGB2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2", "description": "" }, { "id": "MONDO:0013160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013160", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2", "description": "" }, { "id": "MIM:613156", "resource": "MIM", "url": "https://www.omim.org/entry/613156", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2" } ], "unlinked_id_list": [], "evidence": [ { "id": "613156", "database": "MIM", "url": "https://www.omim.org/entry/613156" }, { "id": "POMT2", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT2/#!details" }, { "id": "0112380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112380" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9UKY4-1" }, { "evidence": [ { "id": "rs587777820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777820" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 140, "end_pos": 140, "sequence_org": "M", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131507505_131507507", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M140", "disease": [ { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "muscular dystrophy-dystroglycanopathy type B", "description": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." }, "synonyms": [ { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "MDDGB", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "613155", "database": "MIM", "url": "https://www.omim.org/entry/613155" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000100000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9Y6A1-1" }, { "evidence": [ { "id": "rs119462983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119462983" }, { "id": "rs119462983", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119462983#frequency_tab" }, { "id": "rs119462983", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119462983" }, { "id": "11053679", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11053679" }, { "id": "16575835", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16575835" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 65, "end_pos": 65, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131506184", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G65", "disease": [ { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "muscular dystrophy-dystroglycanopathy type B", "description": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." }, "synonyms": [ { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "MDDGB", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "613155", "database": "MIM", "url": "https://www.omim.org/entry/613155" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9Y6A1-1" }, { "evidence": [ { "id": "rs587777817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777817" }, { "id": "12369018", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12369018" }, { "id": "18513969", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18513969" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 704, "end_pos": 704, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131522972", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A704", "disease": [ { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "Q9Y6A1-1" }, { "evidence": [ { "id": "rs398124245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398124245" }, { "id": "19299310", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19299310" } ], "glycoeffect": [], "start_pos": 723, "end_pos": 723, "sequence_org": "D", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "131523029", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D723", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110297", "recommended_name": { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)." }, "synonyms": [ { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "LGMD2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "MDDGC1", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "muscular dystrophy limb-girdle type 2K", "description": "" }, { "id": "DOID:0110297", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110297", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy type 2K", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD-POMT1 related", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "LGMD2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "MDDGC1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy - intellectual disability", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "limb-girdle muscular dystrophy type 2K", "description": "" }, { "id": "MONDO:0012248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012248", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1", "description": "" }, { "id": "MIM:609308", "resource": "MIM", "url": "https://www.omim.org/entry/609308", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1" } ], "unlinked_id_list": [], "evidence": [ { "id": "609308", "database": "MIM", "url": "https://www.omim.org/entry/609308" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0110297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110297" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0112375", "recommended_name": { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "muscular dystrophy-dystroglycanopathy type B", "description": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." }, "synonyms": [ { "id": "DOID:0112375", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112375", "name": "MDDGB", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "unlinked_id_list": [], "evidence": [ { "id": "613155", "database": "MIM", "url": "https://www.omim.org/entry/613155" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" } ] } ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.10.000.100", "uniprot_canonical_ac": "Q9Y6A1-1" } ], "record_id": "pubmed.19299310", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.", "journal": "Neuromuscular disorders : NMD", "date": "2009", "authors": "Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, Campbell KP, Abdenur JE", "reference": { "type": "PubMed", "id": "19342235", "url": "https://pubmed.ncbi.nlm.nih.gov/19342235" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119463995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119463995" }, { "id": "rs119463995", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119463995#frequency_tab" }, { "id": "17878207", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17878207" }, { "id": "19342235", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19342235" } ], "glycoeffect": [], "start_pos": 114, "end_pos": 114, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105601319", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A114", "disease": [ { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "FKTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD-FKTN related", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "MDDGC4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012699", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699" }, { "id": "611588", "database": "MIM", "url": "https://www.omim.org/entry/611588" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110296" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "O75072-1" }, { "evidence": [ { "id": "rs119463996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119463996" }, { "id": "rs119463996", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs119463996" }, { "id": "19342235", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19342235" } ], "glycoeffect": [], "start_pos": 176, "end_pos": 176, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105604372", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F176", "disease": [ { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "FKTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD-FKTN related", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "MDDGC4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012699", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699" }, { "id": "611588", "database": "MIM", "url": "https://www.omim.org/entry/611588" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110296" } ] }, { "disease_id": "DOID:0111229", "recommended_name": { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular dystrophy-dystroglycanopathy type A", "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." }, "synonyms": [ { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "klissencephaly type 2 with muscular and ocular involvement", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "MDDGA", "description": "" }, { "id": "DOID:0111229", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111229", "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" } ] }, { "disease_id": "DOID:0111237", "recommended_name": { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy type A1", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13." }, "synonyms": [ { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "MDDGA1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1", "description": "" }, { "id": "DOID:0111237", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111237", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1", "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscle-eye-brain-POMT1 related", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "MDDGA1", "description": "" }, { "id": "MONDO:0009364", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009364", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1", "description": "" }, { "id": "MIM:236670", "resource": "MIM", "url": "https://www.omim.org/entry/236670", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1" } ], "unlinked_id_list": [], "evidence": [ { "id": "236670", "database": "MIM", "url": "https://www.omim.org/entry/236670" }, { "id": "POMT1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMT1/#!details" }, { "id": "0111237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111237" } ] }, { "disease_id": "DOID:0112379", "recommended_name": { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "muscular dystrophy-dystroglycanopathy type B4", "description": "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." }, "synonyms": [ { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "MDDGB4", "description": "" }, { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112379", "name": "congenital muscular dystrophy FKTN-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "congenital muscular dystrophy-FKTN related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "MDDGB4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4", "description": "" }, { "id": "MIM:613152", "resource": "MIM", "url": "https://www.omim.org/entry/613152", "name": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4", "description": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4" } ], "unlinked_id_list": [], "evidence": [ { "id": "613152", "database": "MIM", "url": "https://www.omim.org/entry/613152" }, { "id": "FKTN", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details" }, { "id": "0112379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112379" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000010000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "O75072-1" } ], "record_id": "pubmed.19342235", "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": "Carrier testing for severe childhood recessive diseases by next-generation sequencing.", "journal": "Science translational medicine", "date": "2011-01-12", "authors": "Bell Callum J, Dinwiddie Darrell L, Miller Neil A, Hateley Shannon L, Ganusova Elena E, Mudge Joann, Langley Ray J, Zhang Lu, Lee Clarence C, Schilkey Faye D, Sheth Vrunda, Woodward Jimmy E, Peckham Heather E, Schroth Gary P, Kim Ryan W, Kingsmore Stephen F", "reference": { "type": "PubMed", "id": "21228398", "url": "https://pubmed.ncbi.nlm.nih.gov/21228398" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs34006675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34006675" }, { "id": "rs34006675", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34006675" }, { "id": "rs34006675", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34006675" }, { "id": "rs34006675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs34006675#frequency_tab" }, { "id": "rs34006675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs34006675" }, { "id": "18177472", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18177472" }, { "id": "21228398", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21228398" }, { "id": "rs34006675", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34006675" } ], "glycoeffect": [], "start_pos": 125, "end_pos": 125, "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105604218", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G125", "disease": [ { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O75072-1" } ], "record_id": "pubmed.21228398", "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": "Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.", "journal": "The Journal of biological chemistry", "date": "2012-03-09", "authors": "Tachikawa Masaji, Kanagawa Motoi, Yu Chih-Chieh, Kobayashi Kazuhiro, Toda Tatsushi", "reference": { "type": "PubMed", "id": "22275357", "url": "https://pubmed.ncbi.nlm.nih.gov/22275357" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119464997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119464997" }, { "id": "rs119464997", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs119464997#frequency_tab" }, { "id": "rs119464997", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119464997" }, { "id": "19179078", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19179078" }, { "id": "22275357", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22275357" } ], "glycoeffect": [], "start_pos": 170, "end_pos": 170, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105604354", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A170", "disease": [ { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O75072-1" } ], "record_id": "pubmed.22275357", "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": "Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.", "journal": "Gene", "date": "2014", "authors": "Ismail Samira, Schaffer Ashleigh E, Rosti Rasim O, Gleeson Joseph G, Zaki Maha S", "reference": { "type": "PubMed", "id": "24530477", "url": "https://pubmed.ncbi.nlm.nih.gov/24530477" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24530477", "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": "ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan.", "journal": "Nature communications", "date": "2016", "authors": "Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsee J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT", "reference": { "type": "PubMed", "id": "27194101", "url": "https://pubmed.ncbi.nlm.nih.gov/27194101" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9S5-1", "protein_name": "Ribitol 5-phosphate transferase FKRP", "gene_name": "FKRP", "tax_name": "Human" }, { "uniprot_canonical_ac": "A4D126-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": "CRPPA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27194101", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Okamura Y, Yamamoto T, Tsukui R, Kato Y, Shibata N", "reference": { "type": "PubMed", "id": "34830034", "url": "https://pubmed.ncbi.nlm.nih.gov/34830034" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34830034", "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": "Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.", "journal": "The journal of obstetrics and gynaecology research", "date": "2022-10", "authors": "Li Meng, Fu Huayu, Li Jiao, Meng Dahua, Zhang Qiang, Fei Dongmei", "reference": { "type": "PubMed", "id": "35843586", "url": "https://pubmed.ncbi.nlm.nih.gov/35843586" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07942-1", "protein_name": "Laminin subunit beta-1", "gene_name": "LAMB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WZA1-1", "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "gene_name": "POMGNT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35843586", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.", "journal": "Nature", "date": "1998", "authors": "Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T", "reference": { "type": "PubMed", "id": "9690476", "url": "https://pubmed.ncbi.nlm.nih.gov/9690476" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75072-1", "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75072", "url": "https://www.uniprot.org/uniprotkb/O75072" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs119463990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119463990" }, { "id": "rs119463990", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119463990" }, { "id": "rs119463990", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs119463990" }, { "id": "9690476", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9690476" }, { "id": "rs119463990", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs119463990" } ], "glycoeffect": [], "start_pos": 47, "end_pos": 47, "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105596631", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R47", "disease": [ { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "unlinked_id_list": [], "evidence": [ { "id": "0012704", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704" }, { "id": "611615", "database": "MIM", "url": "https://www.omim.org/entry/611615" }, { "id": "2218", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/2218#disease" }, { "id": "0110444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O75072-1" }, { "evidence": [ { "id": "rs587777813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587777813" }, { "id": "9690476", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9690476" } ], "glycoeffect": [], "start_pos": 63, "end_pos": 63, "sequence_org": "M", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.", "chr_id": "9", "chr_pos": "105601166_105601167", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M63", "disease": [ { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama Type Congenital Muscular Dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" }, { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000100000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "O75072-1" } ], "record_id": "pubmed.9690476", "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 3' exonuclease that specifically interacts with the 3' end of histone mRNA.", "journal": "Molecular cell", "date": "2003", "authors": "Dominski Z, Yang XC, Kaygun H, Dadlez M, Marzluff WF", "reference": { "type": "PubMed", "id": "14536070", "url": "https://pubmed.ncbi.nlm.nih.gov/14536070" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IV48-1", "protein_name": "3'-5' exoribonuclease 1", "gene_name": "ERI1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IV48", "url": "https://www.uniprot.org/uniprotkb/Q8IV48" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14536070", "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 conserved siRNA-degrading RNase negatively regulates RNA interference in C. elegans.", "journal": "Nature", "date": "2004", "authors": "Kennedy S, Wang D, Ruvkun G", "reference": { "type": "PubMed", "id": "14961122", "url": "https://pubmed.ncbi.nlm.nih.gov/14961122" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IV48-1", "protein_name": "3'-5' exoribonuclease 1", "gene_name": "ERI1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IV48", "url": "https://www.uniprot.org/uniprotkb/Q8IV48" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14961122", "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": "Crystallographic structure of the nuclease domain of 3'hExo, a DEDDh family member, bound to rAMP.", "journal": "Journal of molecular biology", "date": "2004", "authors": "Cheng Y, Patel DJ", "reference": { "type": "PubMed", "id": "15451662", "url": "https://pubmed.ncbi.nlm.nih.gov/15451662" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IV48-1", "protein_name": "3'-5' exoribonuclease 1", "gene_name": "ERI1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IV48", "url": "https://www.uniprot.org/uniprotkb/Q8IV48" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15451662", "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 and biochemical characterization of Drosophila Snipper: A promiscuous member of the metazoan 3'hExo/ERI-1 family of 3' to 5' exonucleases.", "journal": "RNA (New York, N.Y.)", "date": "2006", "authors": "Kupsco JM, Wu MJ, Marzluff WF, Thapar R, Duronio RJ", "reference": { "type": "PubMed", "id": "17135487", "url": "https://pubmed.ncbi.nlm.nih.gov/17135487" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IV48-1", "protein_name": "3'-5' exoribonuclease 1", "gene_name": "ERI1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q95RQ4-1", "protein_name": "3'-5' exonuclease Snipper", "gene_name": "Snp", "tax_name": "Fruit fly" }, { "uniprot_canonical_ac": "A8K979-1", "protein_name": "ERI1 exoribonuclease 2", "gene_name": "ERI2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IV48", "url": "https://www.uniprot.org/uniprotkb/Q8IV48" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17135487", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] } ]