[ { "title": "A novel proteomic approach for specific identification of tyrosine kinase substrates using [13C]tyrosine.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Ibarrola N, Molina H, Iwahori A, Pandey A", "reference": { "type": "PubMed", "id": "14739304", "url": "https://pubmed.ncbi.nlm.nih.gov/14739304" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BSA4-1", "protein_name": "Protein tweety homolog 2", "gene_name": "TTYH2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 827, "end_pos": 827, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "PubMed", "id": "21169560", "url": "https://pubmed.ncbi.nlm.nih.gov/21169560" }, { "database": "iPTMnet", "id": "Q07912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07912" }, { "database": "PubMed", "id": "14739304", "url": "https://pubmed.ncbi.nlm.nih.gov/14739304" }, { "database": "PubMed", "id": "18691976", "url": "https://pubmed.ncbi.nlm.nih.gov/18691976" }, { "database": "PubMed", "id": "18707149", "url": "https://pubmed.ncbi.nlm.nih.gov/18707149" } ], "site_lbl": "Tyr827", "uniprot_canonical_ac": "Q07912-1" }, { "start_pos": 494, "end_pos": 494, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9BSA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BSA4" }, { "database": "PubMed", "id": "14739304", "url": "https://pubmed.ncbi.nlm.nih.gov/14739304" } ], "site_lbl": "Tyr494", "uniprot_canonical_ac": "Q9BSA4-1" } ], "record_id": "pubmed.14739304", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Activated tyrosine kinase Ack1 promotes prostate tumorigenesis: role of Ack1 in polyubiquitination of tumor suppressor Wwox.", "journal": "Cancer research", "date": "2005", "authors": "Mahajan NP, Whang YE, Mohler JL, Earp HS", "reference": { "type": "PubMed", "id": "16288044", "url": "https://pubmed.ncbi.nlm.nih.gov/16288044" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZC7-1", "protein_name": "WW domain-containing oxidoreductase", "gene_name": "WWOX", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12866-1", "protein_name": "Tyrosine-protein kinase Mer", "gene_name": "MERTK", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 158, "end_pos": 158, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of autophosphorylation at Y-284.", "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "PubMed", "id": "20110370", "url": "https://pubmed.ncbi.nlm.nih.gov/20110370" }, { "database": "PubMed", "id": "16288044", "url": "https://pubmed.ncbi.nlm.nih.gov/16288044" } ], "uniprot_canonical_ac": "Q07912-1" }, { "start_pos": 487, "end_pos": 487, "sequence_org": "L", "sequence_mut": "F", "comment": "Constantly active kinase.", "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "PubMed", "id": "16288044", "url": "https://pubmed.ncbi.nlm.nih.gov/16288044" } ], "uniprot_canonical_ac": "Q07912-1" }, { "start_pos": 287, "end_pos": 287, "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of phosphorylation by TNK2.", "evidence": [ { "database": "UniProtKB", "id": "Q9NZC7", "url": "https://www.uniprot.org/uniprotkb/Q9NZC7" }, { "database": "PubMed", "id": "16288044", "url": "https://pubmed.ncbi.nlm.nih.gov/16288044" } ], "uniprot_canonical_ac": "Q9NZC7-1" } ], "phosphorylation": [ { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "Q07912-1", "kinase_gene_name": "TNK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NZC7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NZC7" }, { "database": "PubMed", "id": "16288044", "url": "https://pubmed.ncbi.nlm.nih.gov/16288044" } ], "site_lbl": "Tyr287", "uniprot_canonical_ac": "Q9NZC7-1" }, { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by TNK2", "evidence": [ { "database": "UniProtKB", "id": "Q9NZC7", "url": "https://www.uniprot.org/uniprotkb/Q9NZC7" }, { "database": "iPTMnet", "id": "Q9NZC7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NZC7" }, { "database": "PubMed", "id": "16288044", "url": "https://pubmed.ncbi.nlm.nih.gov/16288044" }, { "database": "PubMed", "id": "20432460", "url": "https://pubmed.ncbi.nlm.nih.gov/20432460" }, { "database": "PubMed", "id": "24899407", "url": "https://pubmed.ncbi.nlm.nih.gov/24899407" } ], "site_lbl": "Tyr287", "uniprot_canonical_ac": "Q9NZC7-1" }, { "start_pos": 33, "end_pos": 33, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9NZC7", "url": "https://www.uniprot.org/uniprotkb/Q9NZC7" }, { "database": "PubMed", "id": "19366691", "url": "https://pubmed.ncbi.nlm.nih.gov/19366691" }, { "database": "PubMed", "id": "15070730", "url": "https://pubmed.ncbi.nlm.nih.gov/15070730" }, { "database": "iPTMnet", "id": "Q9NZC7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NZC7" }, { "database": "PubMed", "id": "12514174", "url": "https://pubmed.ncbi.nlm.nih.gov/12514174" }, { "database": "PubMed", "id": "15580310", "url": "https://pubmed.ncbi.nlm.nih.gov/15580310" }, { "database": "IntAct", "id": "Q9NZC7", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9NZC7*" }, { "database": "PubMed", "id": "14555208", "url": "https://pubmed.ncbi.nlm.nih.gov/14555208" }, { "database": "PubMed", "id": "16288044", "url": "https://pubmed.ncbi.nlm.nih.gov/16288044" }, { "database": "PubMed", "id": "17567906", "url": "https://pubmed.ncbi.nlm.nih.gov/17567906" }, { "database": "PubMed", "id": "18371080", "url": "https://pubmed.ncbi.nlm.nih.gov/18371080" }, { "database": "PubMed", "id": "19484134", "url": "https://pubmed.ncbi.nlm.nih.gov/19484134" }, { "database": "PubMed", "id": "24008736", "url": "https://pubmed.ncbi.nlm.nih.gov/24008736" }, { "database": "PubMed", "id": "24899407", "url": "https://pubmed.ncbi.nlm.nih.gov/24899407" }, { "database": "PubMed", "id": "25649963", "url": "https://pubmed.ncbi.nlm.nih.gov/25649963" }, { "database": "PubMed", "id": "26120275", "url": "https://pubmed.ncbi.nlm.nih.gov/26120275" }, { "database": "PubMed", "id": "27339895", "url": "https://pubmed.ncbi.nlm.nih.gov/27339895" } ], "site_lbl": "Tyr33", "uniprot_canonical_ac": "Q9NZC7-1" } ], "record_id": "pubmed.16288044", "abstract": "", "glycosylation": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Purification and enzyme activity of ACK1.", "journal": "Methods in enzymology", "date": "2006", "authors": "Yokoyama N, Miller WT", "reference": { "type": "PubMed", "id": "16472662", "url": "https://pubmed.ncbi.nlm.nih.gov/16472662" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 284, "end_pos": 284, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by SRC and autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "iPTMnet", "id": "Q07912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07912" }, { "database": "PubMed", "id": "14506255", "url": "https://pubmed.ncbi.nlm.nih.gov/14506255" }, { "database": "PubMed", "id": "17389395", "url": "https://pubmed.ncbi.nlm.nih.gov/17389395" }, { "database": "PubMed", "id": "20333297", "url": "https://pubmed.ncbi.nlm.nih.gov/20333297" }, { "database": "PubMed", "id": "20623637", "url": "https://pubmed.ncbi.nlm.nih.gov/20623637" }, { "database": "PubMed", "id": "20979614", "url": "https://pubmed.ncbi.nlm.nih.gov/20979614" }, { "database": "PubMed", "id": "26498357", "url": "https://pubmed.ncbi.nlm.nih.gov/26498357" }, { "database": "PubMed", "id": "16472662", "url": "https://pubmed.ncbi.nlm.nih.gov/16472662" }, { "database": "PubMed", "id": "19369195", "url": "https://pubmed.ncbi.nlm.nih.gov/19369195" }, { "database": "PubMed", "id": "21169560", "url": "https://pubmed.ncbi.nlm.nih.gov/21169560" }, { "database": "PubMed", "id": "21309750", "url": "https://pubmed.ncbi.nlm.nih.gov/21309750" }, { "database": "PubMed", "id": "15308621", "url": "https://pubmed.ncbi.nlm.nih.gov/15308621" } ], "site_lbl": "Tyr284", "uniprot_canonical_ac": "Q07912-1" } ], "record_id": "pubmed.16472662", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Activated Cdc42-associated kinase Ack1 promotes prostate cancer progression via androgen receptor tyrosine phosphorylation.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2007", "authors": "Mahajan NP, Liu Y, Majumder S, Warren MR, Parker CE, Mohler JL, Earp HS, Whang YE", "reference": { "type": "PubMed", "id": "17494760", "url": "https://pubmed.ncbi.nlm.nih.gov/17494760" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10275-1", "protein_name": "Androgen receptor", "gene_name": "AR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 269, "end_pos": 269, "sequence_org": "Y", "sequence_mut": "F", "comment": "Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-365.", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprotkb/P10275" }, { "database": "PubMed", "id": "17494760", "url": "https://pubmed.ncbi.nlm.nih.gov/17494760" }, { "database": "PubMed", "id": "17045208", "url": "https://pubmed.ncbi.nlm.nih.gov/17045208" } ], "uniprot_canonical_ac": "P10275-1" }, { "start_pos": 365, "end_pos": 365, "sequence_org": "Y", "sequence_mut": "F", "comment": "Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-269.", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprotkb/P10275" }, { "database": "PubMed", "id": "17494760", "url": "https://pubmed.ncbi.nlm.nih.gov/17494760" }, { "database": "PubMed", "id": "17045208", "url": "https://pubmed.ncbi.nlm.nih.gov/17045208" } ], "uniprot_canonical_ac": "P10275-1" } ], "phosphorylation": [ { "start_pos": 269, "end_pos": 269, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by CSK and TNK2", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprotkb/P10275" }, { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "17494760", "url": "https://pubmed.ncbi.nlm.nih.gov/17494760" }, { "database": "PubMed", "id": "20623637", "url": "https://pubmed.ncbi.nlm.nih.gov/20623637" }, { "database": "PubMed", "id": "17045208", "url": "https://pubmed.ncbi.nlm.nih.gov/17045208" } ], "site_lbl": "Tyr269", "uniprot_canonical_ac": "P10275-1" }, { "start_pos": 365, "end_pos": 365, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by CSK and TNK2", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprotkb/P10275" }, { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "17494760", "url": "https://pubmed.ncbi.nlm.nih.gov/17494760" }, { "database": "PubMed", "id": "17045208", "url": "https://pubmed.ncbi.nlm.nih.gov/17045208" } ], "site_lbl": "Tyr365", "uniprot_canonical_ac": "P10275-1" } ], "record_id": "pubmed.17494760", "abstract": "", "glycosylation": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Dysregulation of Ack1 inhibits down-regulation of the EGF receptor.", "journal": "Experimental cell research", "date": "2008-04-01", "authors": "Gr\u00f8vdal Lene Melsaether, Johannessen Lene E, R\u00f8dland Marianne Skeie, Madshus Inger Helene, Stang Espen", "reference": { "type": "PubMed", "id": "18262180", "url": "https://pubmed.ncbi.nlm.nih.gov/18262180" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18262180", "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": "TNK2 preserves epidermal growth factor receptor expression on the cell surface and enhances migration and invasion of human breast cancer cells.", "journal": "Breast cancer research : BCR", "date": "2008", "authors": "Howlin Jillian, Rosenkvist Jeanette, Andersson Tommy", "reference": { "type": "PubMed", "id": "18435854", "url": "https://pubmed.ncbi.nlm.nih.gov/18435854" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18435854", "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": "Identification and optimization of N3,N6-diaryl-1H-pyrazolo[3,4-d]pyrimidine-3,6-diamines as a novel class of ACK1 inhibitors.", "journal": "Bioorg. Med. Chem. Lett.", "date": "2008", "authors": "Kopecky David J, Hao Xiaolin, Chen Yi, Fu Jiasheng, Jiao XianYun, Jaen Juan C, Cardozo Mario G, Liu Jinsong, Wang Zhulun, Walker Nigel P C, Wesche Holger, Li Shyun, Farrelly Ellyn, Xiao Shou-Hua, Kayser Frank", "reference": { "type": "PubMed", "id": "18993068", "url": "https://pubmed.ncbi.nlm.nih.gov/18993068" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18993068", "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": "Down-regulation of active ACK1 is mediated by association with the E3 ubiquitin ligase Nedd4-2.", "journal": "J. Biol. Chem.", "date": "2009", "authors": "Chan Wing, Tian Rui, Lee Yeow-Fong, Sit Soon Tuck, Lim Louis, Manser Ed", "reference": { "type": "PubMed", "id": "19144635", "url": "https://pubmed.ncbi.nlm.nih.gov/19144635" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PU5-1", "protein_name": "E3 ubiquitin-protein ligase NEDD4-like", "gene_name": "NEDD4L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19144635", "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": "Cancer-associated mutations activate the nonreceptor tyrosine kinase Ack1.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Prieto-Echague V, Gucwa A, Craddock BP, Brown DA, Miller WT", "reference": { "type": "PubMed", "id": "20110370", "url": "https://pubmed.ncbi.nlm.nih.gov/20110370" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 120, "end_pos": 120, "sequence_org": "L", "sequence_mut": "Q", "comment": "No effect on autophosphorylation at Y-284.", "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "PubMed", "id": "20110370", "url": "https://pubmed.ncbi.nlm.nih.gov/20110370" } ], "uniprot_canonical_ac": "Q07912-1" }, { "start_pos": 158, "end_pos": 158, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of autophosphorylation at Y-284.", "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "PubMed", "id": "20110370", "url": "https://pubmed.ncbi.nlm.nih.gov/20110370" }, { "database": "PubMed", "id": "16288044", "url": "https://pubmed.ncbi.nlm.nih.gov/16288044" } ], "uniprot_canonical_ac": "Q07912-1" }, { "start_pos": 197, "end_pos": 197, "sequence_org": "L", "sequence_mut": "Q", "comment": "No effect on autophosphorylation at Y-284.", "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "PubMed", "id": "20110370", "url": "https://pubmed.ncbi.nlm.nih.gov/20110370" } ], "uniprot_canonical_ac": "Q07912-1" }, { "start_pos": 365, "end_pos": 365, "sequence_org": "V", "sequence_mut": "R", "comment": "Increased autophosphorylation at Y-284.", "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "PubMed", "id": "20110370", "url": "https://pubmed.ncbi.nlm.nih.gov/20110370" } ], "uniprot_canonical_ac": "Q07912-1" } ], "record_id": "pubmed.20110370", "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": "Dasatinib inhibits site-specific tyrosine phosphorylation of androgen receptor by Ack1 and Src kinases.", "journal": "Oncogene", "date": "2010-06-03", "authors": "Liu Y, Karaca M, Zhang Z, Gioeli D, Earp H S, Whang Y E", "reference": { "type": "PubMed", "id": "20383201", "url": "https://pubmed.ncbi.nlm.nih.gov/20383201" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20383201", "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": "Shepherding AKT and androgen receptor by Ack1 tyrosine kinase.", "journal": "J. Cell. Physiol.", "date": "2010", "authors": "Mahajan K, Mahajan NP", "reference": { "type": "PubMed", "id": "20432460", "url": "https://pubmed.ncbi.nlm.nih.gov/20432460" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31749-1", "protein_name": "RAC-alpha serine/threonine-protein kinase", "gene_name": "AKT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZC7-1", "protein_name": "WW domain-containing oxidoreductase", "gene_name": "WWOX", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 176, "end_pos": 176, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by TNK2", "evidence": [ { "database": "UniProtKB", "id": "P31749", "url": "https://www.uniprot.org/uniprotkb/P31749" }, { "database": "iPTMnet", "id": "P31749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31749" }, { "database": "PubMed", "id": "20432460", "url": "https://pubmed.ncbi.nlm.nih.gov/20432460" }, { "database": "PubMed", "id": "20333297", "url": "https://pubmed.ncbi.nlm.nih.gov/20333297" } ], "site_lbl": "Tyr176", "uniprot_canonical_ac": "P31749-1" }, { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by TNK2", "evidence": [ { "database": "UniProtKB", "id": "Q9NZC7", "url": "https://www.uniprot.org/uniprotkb/Q9NZC7" }, { "database": "iPTMnet", "id": "Q9NZC7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NZC7" }, { "database": "PubMed", "id": "16288044", "url": "https://pubmed.ncbi.nlm.nih.gov/16288044" }, { "database": "PubMed", "id": "20432460", "url": "https://pubmed.ncbi.nlm.nih.gov/20432460" }, { "database": "PubMed", "id": "24899407", "url": "https://pubmed.ncbi.nlm.nih.gov/24899407" } ], "site_lbl": "Tyr287", "uniprot_canonical_ac": "Q9NZC7-1" } ], "record_id": "pubmed.20432460", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Effect of Ack1 tyrosine kinase inhibitor on ligand-independent androgen receptor activity.", "journal": "The Prostate", "date": "2010", "authors": "Mahajan K, Challa S, Coppola D, Lawrence H, Luo Y, Gevariya H, Zhu W, Chen YA, Lawrence NJ, Mahajan NP", "reference": { "type": "PubMed", "id": "20623637", "url": "https://pubmed.ncbi.nlm.nih.gov/20623637" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10275-1", "protein_name": "Androgen receptor", "gene_name": "AR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 284, "end_pos": 284, "kinase_uniprot_canonical_ac": "Q07912-1", "kinase_gene_name": "TNK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q07912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07912" }, { "database": "PubMed", "id": "20333297", "url": "https://pubmed.ncbi.nlm.nih.gov/20333297" }, { "database": "PubMed", "id": "20623637", "url": "https://pubmed.ncbi.nlm.nih.gov/20623637" }, { "database": "PubMed", "id": "20979614", "url": "https://pubmed.ncbi.nlm.nih.gov/20979614" }, { "database": "PubMed", "id": "21169560", "url": "https://pubmed.ncbi.nlm.nih.gov/21169560" }, { "database": "PubMed", "id": "14506255", "url": "https://pubmed.ncbi.nlm.nih.gov/14506255" }, { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "PubMed", "id": "15308621", "url": "https://pubmed.ncbi.nlm.nih.gov/15308621" } ], "site_lbl": "Tyr284", "uniprot_canonical_ac": "Q07912-1" }, { "start_pos": 284, "end_pos": 284, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by SRC and autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "iPTMnet", "id": "Q07912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07912" }, { "database": "PubMed", "id": "14506255", "url": "https://pubmed.ncbi.nlm.nih.gov/14506255" }, { "database": "PubMed", "id": "17389395", "url": "https://pubmed.ncbi.nlm.nih.gov/17389395" }, { "database": "PubMed", "id": "20333297", "url": "https://pubmed.ncbi.nlm.nih.gov/20333297" }, { "database": "PubMed", "id": "20623637", "url": "https://pubmed.ncbi.nlm.nih.gov/20623637" }, { "database": "PubMed", "id": "20979614", "url": "https://pubmed.ncbi.nlm.nih.gov/20979614" }, { "database": "PubMed", "id": "26498357", "url": "https://pubmed.ncbi.nlm.nih.gov/26498357" }, { "database": "PubMed", "id": "16472662", "url": "https://pubmed.ncbi.nlm.nih.gov/16472662" }, { "database": "PubMed", "id": "19369195", "url": "https://pubmed.ncbi.nlm.nih.gov/19369195" }, { "database": "PubMed", "id": "21169560", "url": "https://pubmed.ncbi.nlm.nih.gov/21169560" }, { "database": "PubMed", "id": "21309750", "url": "https://pubmed.ncbi.nlm.nih.gov/21309750" }, { "database": "PubMed", "id": "15308621", "url": "https://pubmed.ncbi.nlm.nih.gov/15308621" } ], "site_lbl": "Tyr284", "uniprot_canonical_ac": "Q07912-1" }, { "start_pos": 269, "end_pos": 269, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by CSK and TNK2", "evidence": [ { "database": "UniProtKB", "id": "P10275", "url": "https://www.uniprot.org/uniprotkb/P10275" }, { "database": "iPTMnet", "id": "P10275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10275" }, { "database": "PubMed", "id": "17494760", "url": "https://pubmed.ncbi.nlm.nih.gov/17494760" }, { "database": "PubMed", "id": "20623637", "url": "https://pubmed.ncbi.nlm.nih.gov/20623637" }, { "database": "PubMed", "id": "17045208", "url": "https://pubmed.ncbi.nlm.nih.gov/17045208" } ], "site_lbl": "Tyr269", "uniprot_canonical_ac": "P10275-1" } ], "record_id": "pubmed.20623637", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Regulation of Ack1 localization and activity by the amino-terminal SAM domain.", "journal": "BMC biochemistry", "date": "2010", "authors": "Prieto-Echague V, Gucwa A, Brown DA, Miller WT", "reference": { "type": "PubMed", "id": "20979614", "url": "https://pubmed.ncbi.nlm.nih.gov/20979614" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 284, "end_pos": 284, "kinase_uniprot_canonical_ac": "Q07912-1", "kinase_gene_name": "TNK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q07912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07912" }, { "database": "PubMed", "id": "20333297", "url": "https://pubmed.ncbi.nlm.nih.gov/20333297" }, { "database": "PubMed", "id": "20623637", "url": "https://pubmed.ncbi.nlm.nih.gov/20623637" }, { "database": "PubMed", "id": "20979614", "url": "https://pubmed.ncbi.nlm.nih.gov/20979614" }, { "database": "PubMed", "id": "21169560", "url": "https://pubmed.ncbi.nlm.nih.gov/21169560" }, { "database": "PubMed", "id": "14506255", "url": "https://pubmed.ncbi.nlm.nih.gov/14506255" }, { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "PubMed", "id": "15308621", "url": "https://pubmed.ncbi.nlm.nih.gov/15308621" } ], "site_lbl": "Tyr284", "uniprot_canonical_ac": "Q07912-1" }, { "start_pos": 284, "end_pos": 284, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by SRC and autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "iPTMnet", "id": "Q07912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07912" }, { "database": "PubMed", "id": "14506255", "url": "https://pubmed.ncbi.nlm.nih.gov/14506255" }, { "database": "PubMed", "id": "17389395", "url": "https://pubmed.ncbi.nlm.nih.gov/17389395" }, { "database": "PubMed", "id": "20333297", "url": "https://pubmed.ncbi.nlm.nih.gov/20333297" }, { "database": "PubMed", "id": "20623637", "url": "https://pubmed.ncbi.nlm.nih.gov/20623637" }, { "database": "PubMed", "id": "20979614", "url": "https://pubmed.ncbi.nlm.nih.gov/20979614" }, { "database": "PubMed", "id": "26498357", "url": "https://pubmed.ncbi.nlm.nih.gov/26498357" }, { "database": "PubMed", "id": "16472662", "url": "https://pubmed.ncbi.nlm.nih.gov/16472662" }, { "database": "PubMed", "id": "19369195", "url": "https://pubmed.ncbi.nlm.nih.gov/19369195" }, { "database": "PubMed", "id": "21169560", "url": "https://pubmed.ncbi.nlm.nih.gov/21169560" }, { "database": "PubMed", "id": "21309750", "url": "https://pubmed.ncbi.nlm.nih.gov/21309750" }, { "database": "PubMed", "id": "15308621", "url": "https://pubmed.ncbi.nlm.nih.gov/15308621" } ], "site_lbl": "Tyr284", "uniprot_canonical_ac": "Q07912-1" } ], "record_id": "pubmed.20979614", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.", "journal": "Annals of neurology", "date": "2013", "authors": "Hitomi Y, Heinzen EL, Donatello S, Dahl HH, Damiano JA, McMahon JM, Berkovic SF, Scheffer IE, Legros B, Rai M, Weckhuysen S, Suls A, De Jonghe P, Pandolfo M, Goldstein DB, Van Bogaert P, Depondt C", "reference": { "type": "PubMed", "id": "23686771", "url": "https://pubmed.ncbi.nlm.nih.gov/23686771" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23686771", "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": "PDGFR-beta-activated ACK1-AKT signaling promotes glioma tumorigenesis.", "journal": "International journal of cancer", "date": "2015", "authors": "Zhang J, Chen T, Mao Q, Lin J, Jia J, Li S, Xiong W, Lin Y, Liu Z, Liu X, Zhao H, Wang G, Zheng D, Qiu S, Ge J", "reference": { "type": "PubMed", "id": "25257795", "url": "https://pubmed.ncbi.nlm.nih.gov/25257795" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 635, "end_pos": 635, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q07912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07912" }, { "database": "PubMed", "id": "25257795", "url": "https://pubmed.ncbi.nlm.nih.gov/25257795" } ], "site_lbl": "Tyr635", "uniprot_canonical_ac": "Q07912-1" } ], "record_id": "pubmed.25257795", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Amplification of ACK1 promotes gastric tumorigenesis via ECD-dependent p53 ubiquitination degradation.", "journal": "Oncotarget", "date": "2017", "authors": "Xu SH, Huang JZ, Chen M, Zeng M, Zou FY, Chen, Yan GR", "reference": { "type": "PubMed", "id": "26498357", "url": "https://pubmed.ncbi.nlm.nih.gov/26498357" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 284, "end_pos": 284, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by SRC and autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" }, { "database": "iPTMnet", "id": "Q07912", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07912" }, { "database": "PubMed", "id": "14506255", "url": "https://pubmed.ncbi.nlm.nih.gov/14506255" }, { "database": "PubMed", "id": "17389395", "url": "https://pubmed.ncbi.nlm.nih.gov/17389395" }, { "database": "PubMed", "id": "20333297", "url": "https://pubmed.ncbi.nlm.nih.gov/20333297" }, { "database": "PubMed", "id": "20623637", "url": "https://pubmed.ncbi.nlm.nih.gov/20623637" }, { "database": "PubMed", "id": "20979614", "url": "https://pubmed.ncbi.nlm.nih.gov/20979614" }, { "database": "PubMed", "id": "26498357", "url": "https://pubmed.ncbi.nlm.nih.gov/26498357" }, { "database": "PubMed", "id": "16472662", "url": "https://pubmed.ncbi.nlm.nih.gov/16472662" }, { "database": "PubMed", "id": "19369195", "url": "https://pubmed.ncbi.nlm.nih.gov/19369195" }, { "database": "PubMed", "id": "21169560", "url": "https://pubmed.ncbi.nlm.nih.gov/21169560" }, { "database": "PubMed", "id": "21309750", "url": "https://pubmed.ncbi.nlm.nih.gov/21309750" }, { "database": "PubMed", "id": "15308621", "url": "https://pubmed.ncbi.nlm.nih.gov/15308621" } ], "site_lbl": "Tyr284", "uniprot_canonical_ac": "Q07912-1" } ], "record_id": "pubmed.26498357", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Domain Architecture of the Nonreceptor Tyrosine Kinase Ack1.", "journal": "Cells", "date": "2023-03-15", "authors": "Kan Yagmur, Paung YiTing, Seeliger Markus A, Miller W Todd", "reference": { "type": "PubMed", "id": "36980241", "url": "https://pubmed.ncbi.nlm.nih.gov/36980241" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36980241", "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": "Host factor TNK2 is required for influenza virus infection.", "journal": "Genes & genomics", "date": "2023-05-03", "authors": "Zhou Ao, Zhang Wenhua, Wang Baoxin", "reference": { "type": "PubMed", "id": "37133719", "url": "https://pubmed.ncbi.nlm.nih.gov/37133719" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37133719", "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": "ACKnowledging the role of the Activated-Cdc42 associated kinase (ACK) in regulating protein stability in cancer.", "journal": "Small GTPases", "date": "2023-12", "authors": "Hodder Samantha, Fox Millie, Binti Ahmad Mokhtar Ana Masara, Mott Helen R, Owen Darerca", "reference": { "type": "PubMed", "id": "37194323", "url": "https://pubmed.ncbi.nlm.nih.gov/37194323" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37194323", "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": "ZNF692 promotes osteosarcoma cell proliferation, migration, and invasion through TNK2-mediated activation of the MEK/ERK pathway.", "journal": "Biology direct", "date": "2024-04-22", "authors": "Zheng Di, Wei Zhun, Zhang Chong, Liu Wenda, Gong Changtian, Wu Fei, Guo Weichun", "reference": { "type": "PubMed", "id": "38650011", "url": "https://pubmed.ncbi.nlm.nih.gov/38650011" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BU19-1", "protein_name": "Zinc finger protein 692", "gene_name": "ZNF692", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38650011", "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": "A non-receptor tyrosine kinase that inhibits the GTPase activity of p21cdc42.", "journal": "Nature", "date": "1993", "authors": "Manser E, Leung T, Salihuddin H, Tan L, Lim L", "reference": { "type": "PubMed", "id": "8497321", "url": "https://pubmed.ncbi.nlm.nih.gov/8497321" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07912-1", "protein_name": "Activated CDC42 kinase 1", "gene_name": "TNK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07912", "url": "https://www.uniprot.org/uniprotkb/Q07912" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8497321", "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": "Fibroblast growth factor receptor-1-mediated endothelial cell proliferation is dependent on the Src homology (SH) 2/SH3 domain-containing adaptor protein Crk.", "journal": "The Journal of biological chemistry", "date": "1999-09-03", "authors": "Larsson H, Klint P, Landgren E, Claesson-Welsh L", "reference": { "type": "PubMed", "id": "10464310", "url": "https://pubmed.ncbi.nlm.nih.gov/10464310" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 463, "end_pos": 463, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "IntAct", "id": "P11362", "url": "https://www.ebi.ac.uk/intact/interactors/id:P11362*" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "10464310", "url": "https://pubmed.ncbi.nlm.nih.gov/10464310" }, { "database": "PubMed", "id": "9880324", "url": "https://pubmed.ncbi.nlm.nih.gov/9880324" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr463", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.10464310", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2000-02", "authors": "Seminara S B, Beranova M, Oliveira L M, Martin K A, Crowley W F, Hall J E", "reference": { "type": "PubMed", "id": "10690855", "url": "https://pubmed.ncbi.nlm.nih.gov/10690855" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909637" }, { "id": "rs121909637", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121909637" }, { "id": "rs121909637", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909637" }, { "id": "rs121909637", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909637#frequency_tab" }, { "id": "rs121909637", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909637" }, { "id": "10690855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10690855" }, { "id": "17235395", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17235395" }, { "id": "rs121909637", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121909637" } ], "glycoeffect": [], "start_pos": 470, "end_pos": 470, "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38418249", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R470", "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.10690855", "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": "Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis.", "journal": "American journal of medical genetics", "date": "2000-04-10", "authors": "Nowaczyk M J, Mernagh J R, Bourgeois J M, Thompson P J, Jurriaans E", "reference": { "type": "PubMed", "id": "10766980", "url": "https://pubmed.ncbi.nlm.nih.gov/10766980" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs779707422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779707422" }, { "id": "rs779707422", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779707422" }, { "id": "rs779707422", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779707422#frequency_tab" }, { "id": "rs779707422", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779707422" }, { "id": "10766980", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10766980" }, { "id": "23819449", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23819449" }, { "id": "26942290", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/26942290" }, { "id": "rs779707422", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779707422" } ], "glycoeffect": [], "start_pos": 546, "end_pos": 546, "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38417331", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N546", "keywords": [ "ebi", "somatic" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.10766980", "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": "Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.", "journal": "Cell", "date": "2000-05-12", "authors": "Plotnikov A N, Hubbard S R, Schlessinger J, Mohammadi M", "reference": { "type": "PubMed", "id": "10830168", "url": "https://pubmed.ncbi.nlm.nih.gov/10830168" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10830168", "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": "Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.", "journal": "American journal of medical genetics", "date": "2000", "authors": "Roscioli T, Flanagan S, Kumar P, Masel J, Gattas M, Hyland VJ, Glass IA", "reference": { "type": "PubMed", "id": "10861678", "url": "https://pubmed.ncbi.nlm.nih.gov/10861678" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909627" }, { "id": "rs121909627", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909627" }, { "id": "rs121909627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909627#frequency_tab" }, { "id": "rs121909627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909627" }, { "id": "10861678", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10861678" }, { "id": "14613973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14613973" }, { "id": "7874169", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7874169" } ], "glycoeffect": [], "start_pos": 252, "end_pos": 252, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38424690", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P252", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.10861678", "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": "Crystal structure of a ternary FGF-FGFR-heparin complex reveals a dual role for heparin in FGFR binding and dimerization.", "journal": "Mol. Cell", "date": "2000", "authors": "Schlessinger J, Plotnikov A N, Ibrahimi O A, Eliseenkova A V, Yeh B K, Yayon A, Linhardt R J, Mohammadi M", "reference": { "type": "PubMed", "id": "11030354", "url": "https://pubmed.ncbi.nlm.nih.gov/11030354" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11030354", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.", "journal": "Cytogenetics and cell genetics", "date": "2000", "authors": "Kress W, Petersen B, Collmann H, Grimm T", "reference": { "type": "PubMed", "id": "11173846", "url": "https://pubmed.ncbi.nlm.nih.gov/11173846" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909633" }, { "id": "rs121909633", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121909633" }, { "id": "rs121909633", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909633" }, { "id": "rs121909633", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909633#frequency_tab" }, { "id": "rs121909633", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909633" }, { "id": "11173846", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11173846" }, { "id": "14513299", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14513299" }, { "id": "15793702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15793702" } ], "glycoeffect": [], "start_pos": 300, "end_pos": 300, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38424546", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I300", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.11173846", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The structure and function of vertebrate fibroblast growth factor receptor 1.", "journal": "Int. J. Dev. Biol.", "date": "2002", "authors": "Groth Casper, Lardelli Michael", "reference": { "type": "PubMed", "id": "12141425", "url": "https://pubmed.ncbi.nlm.nih.gov/12141425" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12141425", "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": "FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting.", "journal": "The Journal of clinical investigation", "date": "2003", "authors": "Riminucci M, Collins MT, Fedarko NS, Cherman N, Corsi A, White KE, Waguespack S, Gupta A, Hannon T, Econs MJ, Bianco P, Gehron Robey P", "reference": { "type": "PubMed", "id": "12952917", "url": "https://pubmed.ncbi.nlm.nih.gov/12952917" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909632" }, { "id": "rs121909632", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909632" }, { "id": "12952917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12952917" }, { "id": "15625620", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15625620" }, { "id": "16470795", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16470795" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 330, "end_pos": 330, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVS->IVS); glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38421889", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N330", "disease": [ { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "001000000000000000000.00010000000000.000000000001000000.01001.10.001.010", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.12952917", "abstract": "", "glycosylation": [], "mutagenesis": [], "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": "K-sam-related gene, N-sam, encodes fibroblast growth factor receptor and is expressed in T-lymphocytic tumors.", "journal": "Cancer Res.", "date": "1992", "authors": "Hattori Y, Odagiri H, Katoh O, Sakamoto H, Morita T, Shimotohno K, Tobinai K, Sugimura T, Terada M", "reference": { "type": "PubMed", "id": "1317750", "url": "https://pubmed.ncbi.nlm.nih.gov/1317750" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1317750", "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": "Point mutation of an FGF receptor abolishes phosphatidylinositol turnover and Ca2+ flux but not mitogenesis.", "journal": "Nature", "date": "1992", "authors": "Peters KG, Marie J, Wilson E, Ives HE, Escobedo J, Del Rosario M, Mirda D, Williams LT", "reference": { "type": "PubMed", "id": "1379697", "url": "https://pubmed.ncbi.nlm.nih.gov/1379697" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 766, "end_pos": 766, "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes interaction with PLCG1 and SHB. Decreases phosphorylation of FRS2, activation of RAS and MAP kinase signaling and stimulation of cell proliferation.", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "PubMed", "id": "12181353", "url": "https://pubmed.ncbi.nlm.nih.gov/12181353" }, { "database": "PubMed", "id": "1379698", "url": "https://pubmed.ncbi.nlm.nih.gov/1379698" }, { "database": "PubMed", "id": "7516330", "url": "https://pubmed.ncbi.nlm.nih.gov/7516330" }, { "database": "PubMed", "id": "1379697", "url": "https://pubmed.ncbi.nlm.nih.gov/1379697" } ], "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.1379697", "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": "Antley-Bixler syndrome with radioulnar synostosis.", "journal": "Pediatric radiology", "date": "2004-02", "authors": "Hurley Maja E, White Martin J, Green Andrew J, Kelleher Jerry", "reference": { "type": "PubMed", "id": "14513299", "url": "https://pubmed.ncbi.nlm.nih.gov/14513299" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909633" }, { "id": "rs121909633", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121909633" }, { "id": "rs121909633", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909633" }, { "id": "rs121909633", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909633#frequency_tab" }, { "id": "rs121909633", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909633" }, { "id": "11173846", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11173846" }, { "id": "14513299", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14513299" }, { "id": "15793702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15793702" } ], "glycoeffect": [], "start_pos": 300, "end_pos": 300, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38424546", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I300", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.14513299", "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": "Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.", "journal": "American journal of human genetics", "date": "2005", "authors": "White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ", "reference": { "type": "PubMed", "id": "15625620", "url": "https://pubmed.ncbi.nlm.nih.gov/15625620" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909632" }, { "id": "rs121909632", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909632" }, { "id": "12952917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12952917" }, { "id": "15625620", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15625620" }, { "id": "16470795", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16470795" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 330, "end_pos": 330, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVS->IVS); glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38421889", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N330", "disease": [ { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "001000000000000000000.00010000000000.000000000001000000.01001.10.001.010", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs121909631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909631" }, { "id": "rs121909631", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909631" }, { "id": "15625620", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15625620" }, { "id": "rs746082633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746082633" }, { "id": "rs746082633", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746082633" }, { "id": "rs746082633", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746082633#frequency_tab" }, { "id": "rs746082633", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746082633" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 374, "end_pos": 374, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38419696", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y374", "disease": [ { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs121909634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909634" }, { "id": "rs121909634", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909634" }, { "id": "15625620", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15625620" } ], "glycoeffect": [], "start_pos": 381, "end_pos": 381, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38419676", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C381", "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000010000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.15625620", "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": "Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.", "journal": "American journal of human genetics", "date": "2005-05", "authors": "Huang Ningwu, Pandey Amit V, Agrawal Vishal, Reardon William, Lapunzina Pablo D, Mowat David, Jabs Ethylin Wang, Van Vliet Guy, Sack Joseph, Fl\u00fcck Christa E, Miller Walter L", "reference": { "type": "PubMed", "id": "15793702", "url": "https://pubmed.ncbi.nlm.nih.gov/15793702" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909633" }, { "id": "rs121909633", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121909633" }, { "id": "rs121909633", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909633" }, { "id": "rs121909633", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909633#frequency_tab" }, { "id": "rs121909633", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909633" }, { "id": "11173846", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11173846" }, { "id": "14513299", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14513299" }, { "id": "15793702", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15793702" } ], "glycoeffect": [], "start_pos": 300, "end_pos": 300, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38424546", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I300", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.15793702", "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": "Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.", "journal": "Human reproduction (Oxford, England)", "date": "2005", "authors": "Sato N, Hasegawa T, Hori N, Fukami M, Yoshimura Y, Ogata T", "reference": { "type": "PubMed", "id": "15845591", "url": "https://pubmed.ncbi.nlm.nih.gov/15845591" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15845591", "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": "Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2006-04", "authors": "Sato Naoko, Ohyama Kenji, Fukami Maki, Okada Michiyo, Ogata Tsutomu", "reference": { "type": "PubMed", "id": "16418210", "url": "https://pubmed.ncbi.nlm.nih.gov/16418210" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs587776835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587776835" }, { "id": "16418210", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16418210" } ], "glycoeffect": [], "start_pos": 441, "end_pos": 441, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38418340_38418341", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V441", "keywords": [ "ebi", "germline" ], "filter_code": "000000000000000000010.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.16418210", "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": "Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.", "journal": "American journal of medical genetics. Part A", "date": "2006", "authors": "Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR, Pitukcheewanont P, White KE", "reference": { "type": "PubMed", "id": "16470795", "url": "https://pubmed.ncbi.nlm.nih.gov/16470795" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909632" }, { "id": "rs121909632", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909632" }, { "id": "12952917", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12952917" }, { "id": "15625620", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15625620" }, { "id": "16470795", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16470795" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 330, "end_pos": 330, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVS->IVS); glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38421889", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N330", "disease": [ { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "001000000000000000000.00010000000000.000000000001000000.01001.10.001.010", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.16470795", "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": "Factors controlling fibroblast growth factor receptor-1's cytoplasmic trafficking and its regulation as revealed by FRAP analysis.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Dunham-Ems SM, Pudavar HE, Myers JM, Maher PA, Prasad PN, Stachowiak MK", "reference": { "type": "PubMed", "id": "16481405", "url": "https://pubmed.ncbi.nlm.nih.gov/16481405" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16481405", "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": "Alternative splicing generates at least five different isoforms of the human basic-FGF receptor.", "journal": "Oncogene", "date": "1991", "authors": "Eisemann A, Ahn J A, Graziani G, Tronick S R, Ron D", "reference": { "type": "PubMed", "id": "1650441", "url": "https://pubmed.ncbi.nlm.nih.gov/1650441" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1650441", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The human fibroblast growth factor receptor genes: a common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain.", "journal": "Mol. Cell. Biol.", "date": "1991", "authors": "Johnson D E, Lu J, Chen H, Werner S, Williams L T", "reference": { "type": "PubMed", "id": "1652059", "url": "https://pubmed.ncbi.nlm.nih.gov/1652059" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1652059", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Pitteloud N, Acierno JS Jr, Meysing A, Eliseenkova AV, Ma J, Ibrahimi OA, Metzger DL, Hayes FJ, Dwyer AA, Hughes VA, Yialamas M, Hall JE, Grant E, Mohammadi M, Crowley WF Jr", "reference": { "type": "PubMed", "id": "16606836", "url": "https://pubmed.ncbi.nlm.nih.gov/16606836" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs267606806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606806" }, { "id": "rs267606806", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606806" }, { "id": "rs267606806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267606806#frequency_tab" }, { "id": "rs267606806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267606806" }, { "id": "16606836", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16606836" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 724, "end_pos": 724, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NCT->KCT); glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38414166", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N724", "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "001000000000000000000.00010000000000.000000000001000000.01001.10.100.010", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs121909635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909635" }, { "id": "rs121909635", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909635" }, { "id": "16606836", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16606836" } ], "glycoeffect": [], "start_pos": 237, "end_pos": 237, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38426158", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G237", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] } ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs121909636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909636" }, { "id": "rs121909636", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909636" }, { "id": "16606836", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16606836" } ], "glycoeffect": [], "start_pos": 680, "end_pos": 680, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38414569", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q680", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] } ], "filter_code": "000000100000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs267606805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606805" }, { "id": "rs267606805", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267606805" }, { "id": "16606836", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16606836" } ], "glycoeffect": [], "start_pos": 722, "end_pos": 722, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38414173", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P722", "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.16606836", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular cloning of a human basic fibroblast growth factor receptor cDNA and expression of a biologically active extracellular domain in a baculovirus system.", "journal": "Growth Factors", "date": "1991", "authors": "Kiefer M C, Baird A, Nguyen T, George-Nascimento C, Mason O B, Boley L J, Valenzuela P, Barr P J", "reference": { "type": "PubMed", "id": "1662973", "url": "https://pubmed.ncbi.nlm.nih.gov/1662973" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1662973", "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": "Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).", "journal": "Molecular and cellular endocrinology", "date": "2006", "authors": "Zenaty D, Bretones P, Lambe C, Guemas I, David M, Leger J, de Roux N", "reference": { "type": "PubMed", "id": "16757108", "url": "https://pubmed.ncbi.nlm.nih.gov/16757108" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16757108", "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 fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2006", "authors": "Trarbach EB, Costa EM, Versiani B, de Castro M, Baptista MT, Garmes HM, de Mendonca BB, Latronico AC", "reference": { "type": "PubMed", "id": "16882753", "url": "https://pubmed.ncbi.nlm.nih.gov/16882753" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909641" }, { "id": "rs121909641", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909641" }, { "id": "16882753", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16882753" }, { "id": "rs2150673946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150673946" }, { "id": "rs2150673946", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2150673946" } ], "glycoeffect": [], "start_pos": 366, "end_pos": 366, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38419720", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P366", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:0090078", "recommended_name": { "id": "DOID:0090078", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090078", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported." }, "synonyms": [ { "id": "MONDO:0007794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007794", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported." }, { "id": "MONDO:0007794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007794", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "" }, { "id": "MONDO:0007794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007794", "name": "hypogonadotropic hypogonadism 7 without anosmia", "description": "" }, { "id": "MONDO:0007794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007794", "name": "HH7", "description": "" }, { "id": "MIM:146110", "resource": "MIM", "url": "https://www.omim.org/entry/146110", "name": "Hypogonadotropic hypogonadism 7 with or without anosmia", "description": "Hypogonadotropic hypogonadism 7 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090078" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs121909640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909640" }, { "id": "rs121909640", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909640" }, { "id": "16882753", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16882753" } ], "glycoeffect": [], "start_pos": 48, "end_pos": 48, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38429898", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G48", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] } ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs121909642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909642" }, { "id": "rs121909642", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909642" }, { "id": "16882753", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16882753" } ], "glycoeffect": [], "start_pos": 722, "end_pos": 722, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38414174", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P722", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] } ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.16882753", "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 FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.", "journal": "Human mutation", "date": "2007", "authors": "Dode C, Fouveaut C, Mortier G, Janssens S, Bertherat J, Mahoudeau J, Kottler ML, Chabrolle C, Gancel A, Francois I, Devriendt K, Wolczynski S, Pugeat M, Pineiro-Garcia A, Murat A, Bouchard P, Young J, Delpech M, Hardelin JP", "reference": { "type": "PubMed", "id": "17154279", "url": "https://pubmed.ncbi.nlm.nih.gov/17154279" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17154279", "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 mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2007-03", "authors": "Xu Ning, Qin Yu, Reindollar Richard H, Tho Sandra P T, McDonough Paul G, Layman Lawrence C", "reference": { "type": "PubMed", "id": "17200176", "url": "https://pubmed.ncbi.nlm.nih.gov/17200176" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909628" }, { "id": "rs121909628", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909628" }, { "id": "12627230", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12627230" }, { "id": "17200176", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17200176" } ], "glycoeffect": [], "start_pos": 622, "end_pos": 622, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38414892", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R622", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:0090078", "recommended_name": { "id": "DOID:0090078", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090078", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported." }, "synonyms": [ { "id": "MONDO:0007794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007794", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported." }, { "id": "MONDO:0007794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007794", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "" }, { "id": "MONDO:0007794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007794", "name": "hypogonadotropic hypogonadism 7 without anosmia", "description": "" }, { "id": "MONDO:0007794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007794", "name": "HH7", "description": "" }, { "id": "MIM:146110", "resource": "MIM", "url": "https://www.omim.org/entry/146110", "name": "Hypogonadotropic hypogonadism 7 with or without anosmia", "description": "Hypogonadotropic hypogonadism 7 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090078" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.17200176", "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": "cDNA cloning and expression of a human FGF receptor which binds acidic and basic FGF.", "journal": "Growth Factors", "date": "1991", "authors": "Wennstr\u00f6m S, Sandstr\u00f6m C, Claesson-Welsh L", "reference": { "type": "PubMed", "id": "1722683", "url": "https://pubmed.ncbi.nlm.nih.gov/1722683" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1722683", "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": "Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.", "journal": "The Journal of clinical investigation", "date": "2007", "authors": "Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng YZ, Li WP, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley W", "reference": { "type": "PubMed", "id": "17235395", "url": "https://pubmed.ncbi.nlm.nih.gov/17235395" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909638" }, { "id": "rs121909638", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909638" }, { "id": "17235395", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17235395" } ], "glycoeffect": [], "start_pos": 342, "end_pos": 342, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38421853", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L342", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] } ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs121909637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909637" }, { "id": "rs121909637", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121909637" }, { "id": "rs121909637", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909637" }, { "id": "rs121909637", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909637#frequency_tab" }, { "id": "rs121909637", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909637" }, { "id": "10690855", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10690855" }, { "id": "17235395", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17235395" }, { "id": "rs121909637", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121909637" } ], "glycoeffect": [], "start_pos": 470, "end_pos": 470, "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38418249", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R470", "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.17235395", "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": "Fibroblast growth factor receptor-induced phosphorylation of STAT1 at the Golgi apparatus without translocation to the nucleus.", "journal": "Journal of cellular physiology", "date": "2007", "authors": "Citores L, Bai L, Sorensen V, Olsnes S", "reference": { "type": "PubMed", "id": "17311277", "url": "https://pubmed.ncbi.nlm.nih.gov/17311277" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P42224-1", "protein_name": "Signal transducer and activator of transcription 1-alpha/beta", "gene_name": "STAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22455-1", "protein_name": "Fibroblast growth factor receptor 4", "gene_name": "FGFR4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 503, "end_pos": 503, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P22455", "url": "https://www.uniprot.org/uniprotkb/P22455" }, { "database": "PubMed", "id": "11433297", "url": "https://pubmed.ncbi.nlm.nih.gov/11433297" }, { "database": "PubMed", "id": "17311277", "url": "https://pubmed.ncbi.nlm.nih.gov/17311277" } ], "uniprot_canonical_ac": "P22455-1" } ], "record_id": "pubmed.17311277", "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": "Impaired FGF signaling contributes to cleft lip and palate.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007-03-13", "authors": "Riley Bridget M, Mansilla M Adela, Ma Jinghong, Daack-Hirsch Sandra, Maher Brion S, Raffensperger Lisa M, Russo Erilynn T, Vieira Alexandre R, Dod\u00e9 Catherine, Mohammadi Moosa, Marazita Mary L, Murray Jeffrey C", "reference": { "type": "PubMed", "id": "17360555", "url": "https://pubmed.ncbi.nlm.nih.gov/17360555" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909639" }, { "id": "rs121909639", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909639" }, { "id": "17360555", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17360555" }, { "id": "rs121909639", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121909639" } ], "glycoeffect": [], "start_pos": 609, "end_pos": 609, "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38415899", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R609", "keywords": [ "ebi", "somatic", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00101.11.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.17360555", "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": "14-3-3 Integrates prosurvival signals mediated by the AKT and MAPK pathways in ZNF198-FGFR1-transformed hematopoietic cells.", "journal": "Blood", "date": "2007", "authors": "Dong S, Kang S, Gu TL, Kardar S, Fu H, Lonial S, Khoury HJ, Khuri F, Chen J", "reference": { "type": "PubMed", "id": "17389761", "url": "https://pubmed.ncbi.nlm.nih.gov/17389761" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NVK5-1", "protein_name": "FGFR1 oncogene partner 2", "gene_name": "FGFR1OP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17389761", "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": "Phosphorylation of fibroblast growth factor (FGF) receptor 1 at Ser777 by p38 mitogen-activated protein kinase regulates translocation of exogenous FGF1 to the cytosol and nucleus.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Sorensen V, Zhen Y, Zakrzewska M, Haugsten EM, Walchli S, Nilsen T, Olsnes S, Wiedlocha A", "reference": { "type": "PubMed", "id": "18411303", "url": "https://pubmed.ncbi.nlm.nih.gov/18411303" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 777, "end_pos": 777, "kinase_uniprot_canonical_ac": "Q16539-1", "kinase_gene_name": "MAPK14", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18411303", "url": "https://pubmed.ncbi.nlm.nih.gov/18411303" }, { "database": "PubMed", "id": "20626350", "url": "https://pubmed.ncbi.nlm.nih.gov/20626350" } ], "site_lbl": "Ser777", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 777, "end_pos": 777, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18411303", "url": "https://pubmed.ncbi.nlm.nih.gov/18411303" }, { "database": "PubMed", "id": "23405013", "url": "https://pubmed.ncbi.nlm.nih.gov/23405013" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "31146385", "url": "https://pubmed.ncbi.nlm.nih.gov/31146385" } ], "site_lbl": "Ser777", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.18411303", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Fibroblast growth factor receptors from liver vary in three structural domains.", "journal": "Science", "date": "1991", "authors": "Hou J Z, Kan M K, McKeehan K, McBride G, Adams P, McKeehan W L", "reference": { "type": "PubMed", "id": "1846977", "url": "https://pubmed.ncbi.nlm.nih.gov/1846977" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1846977", "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": "Ubiquitination of fibroblast growth factor receptor 1 is required for its intracellular sorting but not for its endocytosis.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Haugsten EM, Malecki J, Bjorklund SM, Olsnes S, Wesche J", "reference": { "type": "PubMed", "id": "18480409", "url": "https://pubmed.ncbi.nlm.nih.gov/18480409" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22455-1", "protein_name": "Fibroblast growth factor receptor 4", "gene_name": "FGFR4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 642, "end_pos": 642, "kinase_uniprot_canonical_ac": "P22455-1", "kinase_gene_name": "FGFR4", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P22455", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22455" }, { "database": "PubMed", "id": "18480409", "url": "https://pubmed.ncbi.nlm.nih.gov/18480409" }, { "database": "PubMed", "id": "18670643", "url": "https://pubmed.ncbi.nlm.nih.gov/18670643" }, { "database": "PubMed", "id": "7518429", "url": "https://pubmed.ncbi.nlm.nih.gov/7518429" }, { "database": "UniProtKB", "id": "P22455", "url": "https://www.uniprot.org/uniprotkb/P22455" } ], "site_lbl": "Tyr642", "uniprot_canonical_ac": "P22455-1" }, { "start_pos": 643, "end_pos": 643, "kinase_uniprot_canonical_ac": "P22455-1", "kinase_gene_name": "FGFR4", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P22455", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22455" }, { "database": "PubMed", "id": "18480409", "url": "https://pubmed.ncbi.nlm.nih.gov/18480409" }, { "database": "PubMed", "id": "18670643", "url": "https://pubmed.ncbi.nlm.nih.gov/18670643" }, { "database": "PubMed", "id": "7518429", "url": "https://pubmed.ncbi.nlm.nih.gov/7518429" }, { "database": "UniProtKB", "id": "P22455", "url": "https://www.uniprot.org/uniprotkb/P22455" } ], "site_lbl": "Tyr643", "uniprot_canonical_ac": "P22455-1" }, { "start_pos": 754, "end_pos": 754, "kinase_uniprot_canonical_ac": "P22455-1", "kinase_gene_name": "FGFR4", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P22455", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P22455" }, { "database": "PubMed", "id": "10918587", "url": "https://pubmed.ncbi.nlm.nih.gov/10918587" }, { "database": "PubMed", "id": "8576110", "url": "https://pubmed.ncbi.nlm.nih.gov/8576110" }, { "database": "PubMed", "id": "18480409", "url": "https://pubmed.ncbi.nlm.nih.gov/18480409" }, { "database": "PubMed", "id": "18670643", "url": "https://pubmed.ncbi.nlm.nih.gov/18670643" }, { "database": "PubMed", "id": "7518429", "url": "https://pubmed.ncbi.nlm.nih.gov/7518429" }, { "database": "UniProtKB", "id": "P22455", "url": "https://www.uniprot.org/uniprotkb/P22455" } ], "site_lbl": "Tyr754", "uniprot_canonical_ac": "P22455-1" } ], "record_id": "pubmed.18480409", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.", "journal": "The Journal of clinical investigation", "date": "2008", "authors": "Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N", "reference": { "type": "PubMed", "id": "18596921", "url": "https://pubmed.ncbi.nlm.nih.gov/18596921" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55075-1", "protein_name": "Fibroblast growth factor 8", "gene_name": "FGF8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909645" }, { "id": "rs121909645", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121909645" }, { "id": "18596921", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18596921" }, { "id": "21700882", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21700882" }, { "id": "23643382", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23643382" }, { "id": "6881209", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/6881209" }, { "id": "rs121909645", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121909645" } ], "glycoeffect": [], "start_pos": 250, "end_pos": 250, "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38424696", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R250", "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "keywords": [ "ebi", "somatic", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs121909643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909643" }, { "id": "rs121909643", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909643#frequency_tab" }, { "id": "18596921", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18596921" } ], "glycoeffect": [], "start_pos": 764, "end_pos": 764, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38413918", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q764", "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000100000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs121909644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909644" }, { "id": "rs121909644", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909644#frequency_tab" }, { "id": "18596921", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18596921" } ], "glycoeffect": [], "start_pos": 768, "end_pos": 768, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38413795", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D768", "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.10.000.100", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs137852663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852663" }, { "id": "rs137852663", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs137852663#frequency_tab" }, { "id": "rs137852663", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs137852663" }, { "id": "18596921", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18596921" } ], "glycoeffect": [], "start_pos": 116, "end_pos": 116, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor.", "chr_id": "10", "chr_pos": "101771528", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R116", "disease": [ { "disease_id": "DOID:0090086", "recommended_name": { "id": "DOID:0090086", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090086", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene." }, "synonyms": [ { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "FGF8 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism caused by mutation in FGF8", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "KAL6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "HH6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "Kallmann syndrome 6", "description": "" }, { "id": "MIM:612702", "resource": "MIM", "url": "https://www.omim.org/entry/612702", "name": "Hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Hypogonadotropic hypogonadism 6 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "612702", "database": "MIM", "url": "https://www.omim.org/entry/612702" }, { "id": "0090086", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090086" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P55075-1" }, { "evidence": [ { "id": "rs137852659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852659" }, { "id": "rs137852659", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs137852659" }, { "id": "18596921", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18596921" } ], "glycoeffect": [], "start_pos": 14, "end_pos": 14, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor.", "chr_id": "10", "chr_pos": "101775769", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H14", "disease": [ { "disease_id": "DOID:0090086", "recommended_name": { "id": "DOID:0090086", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090086", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene." }, "synonyms": [ { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "FGF8 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism caused by mutation in FGF8", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "KAL6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "HH6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "Kallmann syndrome 6", "description": "" }, { "id": "MIM:612702", "resource": "MIM", "url": "https://www.omim.org/entry/612702", "name": "Hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Hypogonadotropic hypogonadism 6 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "612702", "database": "MIM", "url": "https://www.omim.org/entry/612702" }, { "id": "0090086", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090086" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000001000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P55075-1" }, { "evidence": [ { "id": "P55075", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P55075" }, { "id": "rs137852664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852664" }, { "id": "rs137852664", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs137852664" }, { "id": "rs137852664", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852664" }, { "id": "rs137852664", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs137852664#frequency_tab" }, { "id": "rs137852664", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs137852664" }, { "id": "18596921", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18596921" }, { "id": "21045958", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21045958" }, { "id": "rs137852664", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs137852664" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 218, "end_pos": 218, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor).", "chr_id": "10", "chr_pos": "101770378", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T218", "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:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:4621", "recommended_name": { "id": "DOID:4621", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4621", "name": "holoprosencephaly", "description": "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies." }, "synonyms": [ { "id": "DOID:4621", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4621", "name": "Holoprosencephaly sequence", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "holoprosencephaly 1", "description": "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22." }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "Hpe, familial", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "cyclopia", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "HPE1", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "holoprosencephaly 1", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "holoprosencephaly 1, isolated cases", "description": "" }, { "id": "MONDO:0009349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009349", "name": "holoprosencephaly type 1", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "4621", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4621" } ] }, { "disease_id": "DOID:0090086", "recommended_name": { "id": "DOID:0090086", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090086", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene." }, "synonyms": [ { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "FGF8 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism caused by mutation in FGF8", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "KAL6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "HH6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "Kallmann syndrome 6", "description": "" }, { "id": "MIM:612702", "resource": "MIM", "url": "https://www.omim.org/entry/612702", "name": "Hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Hypogonadotropic hypogonadism 6 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "612702", "database": "MIM", "url": "https://www.omim.org/entry/612702" }, { "id": "0090086", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090086" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000000010000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "P55075-1" }, { "evidence": [ { "id": "rs137852660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852660" }, { "id": "rs137852660", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs137852660" }, { "id": "rs137852660", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852660" }, { "id": "rs137852660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs137852660#frequency_tab" }, { "id": "rs137852660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs137852660" }, { "id": "18596921", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18596921" } ], "glycoeffect": [], "start_pos": 26, "end_pos": 26, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor.", "chr_id": "10", "chr_pos": "101775209", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P26", "disease": [ { "disease_id": "DOID:0090086", "recommended_name": { "id": "DOID:0090086", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090086", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene." }, "synonyms": [ { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "FGF8 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism caused by mutation in FGF8", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "KAL6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "HH6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "Kallmann syndrome 6", "description": "" }, { "id": "MIM:612702", "resource": "MIM", "url": "https://www.omim.org/entry/612702", "name": "Hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Hypogonadotropic hypogonadism 6 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "612702", "database": "MIM", "url": "https://www.omim.org/entry/612702" }, { "id": "0090086", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090086" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P55075-1" }, { "evidence": [ { "id": "rs137852661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852661" }, { "id": "rs137852661", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs137852661" }, { "id": "18596921", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18596921" } ], "glycoeffect": [], "start_pos": 40, "end_pos": 40, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor.", "chr_id": "10", "chr_pos": "101775168", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F40", "disease": [ { "disease_id": "DOID:0090086", "recommended_name": { "id": "DOID:0090086", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090086", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene." }, "synonyms": [ { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "FGF8 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism caused by mutation in FGF8", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "KAL6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "HH6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "Kallmann syndrome 6", "description": "" }, { "id": "MIM:612702", "resource": "MIM", "url": "https://www.omim.org/entry/612702", "name": "Hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Hypogonadotropic hypogonadism 6 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "612702", "database": "MIM", "url": "https://www.omim.org/entry/612702" }, { "id": "0090086", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090086" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000010000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P55075-1" }, { "evidence": [ { "id": "rs137852662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852662" }, { "id": "rs137852662", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs137852662" }, { "id": "18596921", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18596921" } ], "glycoeffect": [], "start_pos": 89, "end_pos": 89, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor.", "chr_id": "10", "chr_pos": "101774771", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K89", "disease": [ { "disease_id": "DOID:0090086", "recommended_name": { "id": "DOID:0090086", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090086", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene." }, "synonyms": [ { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "FGF8 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism 6 with or without anosmia", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "hypogonadotropic hypogonadism caused by mutation in FGF8", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "KAL6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "HH6", "description": "" }, { "id": "MONDO:0012988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012988", "name": "Kallmann syndrome 6", "description": "" }, { "id": "MIM:612702", "resource": "MIM", "url": "https://www.omim.org/entry/612702", "name": "Hypogonadotropic hypogonadism 6 with or without anosmia", "description": "Hypogonadotropic hypogonadism 6 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "612702", "database": "MIM", "url": "https://www.omim.org/entry/612702" }, { "id": "0090086", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090086" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P55075-1" } ], "record_id": "pubmed.18596921", "abstract": "", "glycosylation": [], "mutagenesis": [], "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": "Fibroblast growth factor receptor-1 (FGFR1) nuclear dynamics reveal a novel mechanism in transcription control.", "journal": "Molecular biology of the cell", "date": "2009-05", "authors": "Dunham-Ems Star M, Lee Yu-Wei, Stachowiak Ewa K, Pudavar Haridas, Claus Peter, Prasad Paras N, Stachowiak Michal K", "reference": { "type": "PubMed", "id": "19261810", "url": "https://pubmed.ncbi.nlm.nih.gov/19261810" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19261810", "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": "Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.", "journal": "American journal of medical genetics. Part A", "date": "2009-07", "authors": "Vilain Catheline, Mortier Geert, Van Vliet Guy, Dubourg Christ\u00e8le, Heinrichs Claudine, de Silva Deephti, Verloes Alain, Baumann Clarisse", "reference": { "type": "PubMed", "id": "19504604", "url": "https://pubmed.ncbi.nlm.nih.gov/19504604" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs397515481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397515481" }, { "id": "rs397515481", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs397515481" }, { "id": "19504604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19504604" }, { "id": "23812909", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23812909" } ], "glycoeffect": [], "start_pos": 165, "end_pos": 165, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38428048", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L165", "keywords": [ "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs398122945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398122945" }, { "id": "rs398122945", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs398122945" }, { "id": "19504604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19504604" }, { "id": "23812909", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23812909" } ], "glycoeffect": [], "start_pos": 725, "end_pos": 725, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38414164", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C725", "keywords": [ "ebi", "germline" ], "filter_code": "000010000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.19504604", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The selectivity of receptor tyrosine kinase signaling is controlled by a secondary SH2 domain binding site.", "journal": "Cell", "date": "2009", "authors": "Bae JH, Lew ED, Yuzawa S, Tome F, Lax I, Schlessinger J", "reference": { "type": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18083107", "url": "https://pubmed.ncbi.nlm.nih.gov/18083107" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr653", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 654, "end_pos": 654, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29720732", "url": "https://pubmed.ncbi.nlm.nih.gov/29720732" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr654", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 766, "end_pos": 766, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "1656221", "url": "https://pubmed.ncbi.nlm.nih.gov/1656221" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" }, { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" } ], "site_lbl": "Tyr766", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.19665973", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2009", "authors": "Raivio T, Sidis Y, Plummer L, Chen H, Ma J, Mukherjee A, Jacobson-Dickman E, Quinton R, Van Vliet G, Lavoie H, Hughes VA, Dwyer A, Hayes FJ, Xu S, Sparks S, Kaiser UB, Mohammadi M, Pitteloud N", "reference": { "type": "PubMed", "id": "19820032", "url": "https://pubmed.ncbi.nlm.nih.gov/19820032" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19820032", "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": "Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2010", "authors": "Goetz Regina, Nakada Yuji, Hu Ming Chang, Kurosu Hiroshi, Wang Lei, Nakatani Teruyo, Shi Mingjun, Eliseenkova Anna V, Razzaque Mohammed S, Moe Orson W, Kuro-o Makoto, Mohammadi Moosa", "reference": { "type": "PubMed", "id": "19966287", "url": "https://pubmed.ncbi.nlm.nih.gov/19966287" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19966287", "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": "Asymmetric receptor contact is required for tyrosine autophosphorylation of fibroblast growth factor receptor in living cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Bae JH, Boggon TJ, Tome F, Mandiyan V, Lax I, Schlessinger J", "reference": { "type": "PubMed", "id": "20133753", "url": "https://pubmed.ncbi.nlm.nih.gov/20133753" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 577, "end_pos": 577, "sequence_org": "R", "sequence_mut": "E", "comment": "Strongly reduced autophosphorylation in response to FGF signaling. No effect on in vitro kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "PubMed", "id": "20133753", "url": "https://pubmed.ncbi.nlm.nih.gov/20133753" } ], "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.20133753", "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": "A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.", "journal": "Human reproduction (Oxford, England)", "date": "2010-04", "authors": "Miura Kiyonori, Miura Shoko, Yoshiura Koh-Ichiro, Seminara Stephanie, Hamaguchi Daisuke, Niikawa Norio, Masuzaki Hideaki", "reference": { "type": "PubMed", "id": "20139426", "url": "https://pubmed.ncbi.nlm.nih.gov/20139426" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20139426", "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 novel fibroblast growth factor-1 (FGF1) mutant that acts as an FGF antagonist.", "journal": "PLoS ONE", "date": "2010", "authors": "Yamaji S, Saegusa J, Ieguchi K, Fujita M, Mori S, Takada YK, Takada Y", "reference": { "type": "PubMed", "id": "20422052", "url": "https://pubmed.ncbi.nlm.nih.gov/20422052" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 50, "end_pos": 50, "sequence_org": "R", "sequence_mut": "E", "comment": "Dominant-negative mutant. Defective in integrin-binding and in ternary complex formation with integrin and FGFR1. No effect on heparin- and FGFR1-binding. Defective in inducing FGF1 signaling, cell proliferation and cell migration. Defective in inducing angiogenesis, and suppression of angiogenesis in different in vitro and in vivo angiogenesis models.", "evidence": [ { "database": "UniProtKB", "id": "P05230", "url": "https://www.uniprot.org/uniprotkb/P05230" }, { "database": "PubMed", "id": "20422052", "url": "https://pubmed.ncbi.nlm.nih.gov/20422052" }, { "database": "PubMed", "id": "23469107", "url": "https://pubmed.ncbi.nlm.nih.gov/23469107" }, { "database": "PubMed", "id": "18441324", "url": "https://pubmed.ncbi.nlm.nih.gov/18441324" } ], "uniprot_canonical_ac": "P05230-1" } ], "record_id": "pubmed.20422052", "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": "A novel mode of protein kinase inhibition exploiting hydrophobic motifs of autoinhibited kinases: discovery of ATP-independent inhibitors of fibroblast growth factor receptor.", "journal": "J. Biol. Chem.", "date": "2011", "authors": "Eathiraj Sudharshan, Palma Rocio, Hirschi Marscha, Volckova Erika, Nakuci Enkeleda, Castro Jennifer, Chen Chang-Rung, Chan Thomas C K, France Dennis S, Ashwell Mark A", "reference": { "type": "PubMed", "id": "21454610", "url": "https://pubmed.ncbi.nlm.nih.gov/21454610" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21454610", "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": "Complete sequence of a human receptor for acidic and basic fibroblast growth factors.", "journal": "Nucleic Acids Res.", "date": "1990", "authors": "Isacchi A, Bergonzoni L, Sarmientos P", "reference": { "type": "PubMed", "id": "2159626", "url": "https://pubmed.ncbi.nlm.nih.gov/2159626" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2159626", "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 complete amino acid sequence of the shorter form of human basic fibroblast growth factor receptor deduced from its cDNA.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1990", "authors": "Itoh N, Terachi T, Ohta M, Seo M K", "reference": { "type": "PubMed", "id": "2162671", "url": "https://pubmed.ncbi.nlm.nih.gov/2162671" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2162671", "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": "Diverse forms of a receptor for acidic and basic fibroblast growth factors.", "journal": "Mol. Cell. Biol.", "date": "1990", "authors": "Johnson D E, Lee P L, Lu J, Williams L T", "reference": { "type": "PubMed", "id": "2167437", "url": "https://pubmed.ncbi.nlm.nih.gov/2167437" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2167437", "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": "Fibronectin induces endothelial cell migration through beta1 integrin and Src-dependent phosphorylation of fibroblast growth factor receptor-1 at tyrosines 653/654 and 766.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Zou L, Cao S, Kang N, Huebert RC, Shah VH", "reference": { "type": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18083107", "url": "https://pubmed.ncbi.nlm.nih.gov/18083107" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr653", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 654, "end_pos": 654, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29720732", "url": "https://pubmed.ncbi.nlm.nih.gov/29720732" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr654", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 766, "end_pos": 766, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "IntAct", "id": "P11362", "url": "https://www.ebi.ac.uk/intact/interactors/id:P11362*" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18412956", "url": "https://pubmed.ncbi.nlm.nih.gov/18412956" }, { "database": "PubMed", "id": "1656221", "url": "https://pubmed.ncbi.nlm.nih.gov/1656221" }, { "database": "PubMed", "id": "12181353", "url": "https://pubmed.ncbi.nlm.nih.gov/12181353" }, { "database": "PubMed", "id": "8321198", "url": "https://pubmed.ncbi.nlm.nih.gov/8321198" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" } ], "site_lbl": "Tyr766", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.22247553", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A translocation t(2;8)(q12;p11) fuses FGFR1 to a novel partner gene, RANBP2/NUP358, in a myeloproliferative/myelodysplastic neoplasm.", "journal": "Leukemia", "date": "2013", "authors": "Gervais C, Dano L, Perrusson N, Helias C, Jeandidier E, Galoisy AC, Ittel A, Herbrecht R, Bilger K, Mauvieux L", "reference": { "type": "PubMed", "id": "23041776", "url": "https://pubmed.ncbi.nlm.nih.gov/23041776" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49792-1", "protein_name": "E3 SUMO-protein ligase RanBP2", "gene_name": "RANBP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23041776", "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": "ERK-mediated phosphorylation of fibroblast growth factor receptor 1 on Ser777 inhibits signaling.", "journal": "Science signaling", "date": "2013", "authors": "Zakrzewska M, Haugsten EM, Nadratowska-Wesolowska B, Oppelt A, Hausott B, Jin Y, Otlewski J, Wesche J, Wiedlocha A", "reference": { "type": "PubMed", "id": "23405013", "url": "https://pubmed.ncbi.nlm.nih.gov/23405013" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 777, "end_pos": 777, "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "23405013", "url": "https://pubmed.ncbi.nlm.nih.gov/23405013" } ], "site_lbl": "Ser777", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 777, "end_pos": 777, "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "23405013", "url": "https://pubmed.ncbi.nlm.nih.gov/23405013" } ], "site_lbl": "Ser777", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 777, "end_pos": 777, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18411303", "url": "https://pubmed.ncbi.nlm.nih.gov/18411303" }, { "database": "PubMed", "id": "23405013", "url": "https://pubmed.ncbi.nlm.nih.gov/23405013" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "31146385", "url": "https://pubmed.ncbi.nlm.nih.gov/31146385" } ], "site_lbl": "Ser777", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.23405013", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.", "journal": "Journal of medical genetics", "date": "2013", "authors": "Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C", "reference": { "type": "PubMed", "id": "23812909", "url": "https://pubmed.ncbi.nlm.nih.gov/23812909" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs397515481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397515481" }, { "id": "rs397515481", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs397515481" }, { "id": "19504604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19504604" }, { "id": "23812909", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23812909" } ], "glycoeffect": [], "start_pos": 165, "end_pos": 165, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38428048", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L165", "keywords": [ "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs398122946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398122946" }, { "id": "rs398122946", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs398122946" }, { "id": "23812909", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23812909" } ], "glycoeffect": [], "start_pos": 623, "end_pos": 623, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38414889", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D623", "keywords": [ "ebi", "germline" ], "filter_code": "000100000000000000000.00000000000000.000000000001000000.00101.10.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs398122945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398122945" }, { "id": "rs398122945", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs398122945" }, { "id": "19504604", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19504604" }, { "id": "23812909", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23812909" } ], "glycoeffect": [], "start_pos": 725, "end_pos": 725, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38414164", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C725", "keywords": [ "ebi", "germline" ], "filter_code": "000010000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.23812909", "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": "An infant with an alopecic plaque on the scalp and ocular choristomas: case presentation. Diagnosis: Encephalocraniocutaneous lipomatosis (ECCL).", "journal": "Pediatric dermatology", "date": "2013", "authors": "Kupsik Michalina, Brandling-Bennett Heather", "reference": { "type": "PubMed", "id": "23819449", "url": "https://pubmed.ncbi.nlm.nih.gov/23819449" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs779707422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779707422" }, { "id": "rs779707422", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779707422" }, { "id": "rs779707422", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779707422#frequency_tab" }, { "id": "rs779707422", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779707422" }, { "id": "10766980", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10766980" }, { "id": "23819449", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23819449" }, { "id": "26942290", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/26942290" }, { "id": "rs779707422", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779707422" } ], "glycoeffect": [], "start_pos": 546, "end_pos": 546, "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38417331", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N546", "keywords": [ "ebi", "somatic" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.23819449", "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": "RSK2 regulates endocytosis of FGF receptor 1 by phosphorylation on serine 789.", "journal": "Oncogene", "date": "2014", "authors": "Nadratowska-Wesolowska B, Haugsten EM, Zakrzewska M, Jakimowicz P, Zhen Y, Pajdzik D, Wesche J, Wiedlocha A", "reference": { "type": "PubMed", "id": "24141780", "url": "https://pubmed.ncbi.nlm.nih.gov/24141780" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 789, "end_pos": 789, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "24141780", "url": "https://pubmed.ncbi.nlm.nih.gov/24141780" } ], "site_lbl": "Ser789", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.24141780", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.", "journal": "American journal of medical genetics. Part A", "date": "2014", "authors": "Dhamija R, Kirmani S, Wang X, Ferber MJ, Wieben ED, Lazaridis KN, Babovic-Vuksanovic D", "reference": { "type": "PubMed", "id": "24888332", "url": "https://pubmed.ncbi.nlm.nih.gov/24888332" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24888332", "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": "Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2015-08", "authors": "Villanueva Carine, Jacobson-Dickman Elka, Xu Cheng, Manouvrier Sylvie, Dwyer Andrew A, Sykiotis Gerasimos P, Beenken Andrew, Liu Yang, Tommiska Johanna, Hu Youli, Tiosano Dov, Gerard Marion, Leger Juliane, Drouin-Garraud Val\u00e9rie, Lefebvre Herv\u00e9, Polak Michel, Carel Jean-Claude, Phan-Hug Franziska, Hauschild Michael, Plummer Lacey, Rey Jean-Pierre, Raivio Taneli, Bouloux Pierre, Sidis Yisrael, Mohammadi Moosa, de Roux Nicolas, Pitteloud Nelly", "reference": { "type": "PubMed", "id": "25394172", "url": "https://pubmed.ncbi.nlm.nih.gov/25394172" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs886037634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886037634" }, { "id": "rs886037634", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs886037634" }, { "id": "23643382", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23643382" }, { "id": "25394172", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25394172" }, { "id": "rs886037634", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs886037634" } ], "glycoeffect": [], "start_pos": 348, "end_pos": 348, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38421836", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G348", "keywords": [ "ebi", "somatic", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] } ], "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.25394172", "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": "Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL.", "journal": "American journal of medical genetics. Part A", "date": "2015-04", "authors": "Bieser Sarah, Reis Martin, Guzman Miguel, Gauvain Karen, Elbabaa Samer, Braddock Stephen R, Abdel-Baki Mohamed S", "reference": { "type": "PubMed", "id": "25705862", "url": "https://pubmed.ncbi.nlm.nih.gov/25705862" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs869320694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869320694" }, { "id": "rs869320694", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869320694" }, { "id": "25705862", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25705862" }, { "id": "26942290", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/26942290" }, { "id": "rs869320694", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs869320694" } ], "glycoeffect": [], "start_pos": 656, "end_pos": 656, "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38414790", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K656", "keywords": [ "ebi", "somatic" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.01.000.100", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.25705862", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The Effect of Mutations on Drug Sensitivity and Kinase Activity of Fibroblast Growth Factor Receptors: A Combined Experimental and Theoretical Study.", "journal": "EBioMedicine", "date": "2015-03-01", "authors": "Bunney Tom D, Wan Shunzhou, Thiyagarajan Nethaji, Sutto Ludovico, Williams Sarah V, Ashford Paul, Koss Hans, Knowles Margaret A, Gervasio Francesco L, Coveney Peter V, Katan Matilda", "reference": { "type": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18083107", "url": "https://pubmed.ncbi.nlm.nih.gov/18083107" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr653", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 654, "end_pos": 654, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29720732", "url": "https://pubmed.ncbi.nlm.nih.gov/29720732" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr654", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.26097890", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.", "journal": "Fertility and sterility", "date": "2015", "authors": "Goncalves C, Bastos M, Pignatelli D, Borges T, Aragues JM, Fonseca F, Pereira BD, Socorro S, Lemos MC", "reference": { "type": "PubMed", "id": "26277103", "url": "https://pubmed.ncbi.nlm.nih.gov/26277103" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26277103", "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": "Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.", "journal": "American journal of human genetics", "date": "2016", "authors": "Bennett JT, Tan TY, Alcantara D, Tetrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM", "reference": { "type": "PubMed", "id": "26942290", "url": "https://pubmed.ncbi.nlm.nih.gov/26942290" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs779707422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779707422" }, { "id": "rs779707422", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779707422" }, { "id": "rs779707422", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779707422#frequency_tab" }, { "id": "rs779707422", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779707422" }, { "id": "10766980", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10766980" }, { "id": "23819449", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23819449" }, { "id": "26942290", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/26942290" }, { "id": "rs779707422", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs779707422" } ], "glycoeffect": [], "start_pos": 546, "end_pos": 546, "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38417331", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N546", "keywords": [ "ebi", "somatic" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "rs869320694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869320694" }, { "id": "rs869320694", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869320694" }, { "id": "25705862", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25705862" }, { "id": "26942290", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/26942290" }, { "id": "rs869320694", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs869320694" } ], "glycoeffect": [], "start_pos": 656, "end_pos": 656, "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38414790", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K656", "keywords": [ "ebi", "somatic" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.01.000.100", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.26942290", "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": "Dual Targeting of PDGFRalpha and FGFR1 Displays Synergistic Efficacy in Malignant Rhabdoid Tumors.", "journal": "Cell reports", "date": "2016", "authors": "Wong JP, Todd JR, Finetti MA, McCarthy F, Broncel M, Vyse S, Luczynski MT, Crosier S, Ryall KA, Holmes K, Payne LS, Daley F, Wai P, Jenks A, Tanos B, Tan AC, Natrajan RC, Williamson D, Huang PH", "reference": { "type": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 583, "end_pos": 583, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr583", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 585, "end_pos": 585, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr585", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18083107", "url": "https://pubmed.ncbi.nlm.nih.gov/18083107" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr653", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 654, "end_pos": 654, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29720732", "url": "https://pubmed.ncbi.nlm.nih.gov/29720732" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr654", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.27783942", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutation in the FGFR1 tyrosine kinase domain or inactivation of PTEN is associated with acquired resistance to FGFR inhibitors in FGFR1-driven leukemia/lymphomas.", "journal": "International journal of cancer", "date": "2017", "authors": "Cowell JK, Qin H, Hu T, Wu Q, Bhole A, Ren M", "reference": { "type": "PubMed", "id": "28646488", "url": "https://pubmed.ncbi.nlm.nih.gov/28646488" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28646488", "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": "Fibroblast growth factor receptor-1 mediates internalization of pathogenic spotted fever rickettsiae into host endothelium.", "journal": "PloS one", "date": "2017", "authors": "Sahni A, Patel J, Narra HP, Schroeder CLC, Walker DH, Sahni SK", "reference": { "type": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18083107", "url": "https://pubmed.ncbi.nlm.nih.gov/18083107" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr653", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 654, "end_pos": 654, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29720732", "url": "https://pubmed.ncbi.nlm.nih.gov/29720732" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr654", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.28806774", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "FGFR1 fusion kinase regulation of MYC expression drives development of stem cell leukemia/lymphoma syndrome.", "journal": "Leukemia", "date": "2018", "authors": "Hu T, Wu Q, Chong Y, Qin H, Poole CJ, van Riggelen J, Ren M, Cowell JK", "reference": { "type": "PubMed", "id": "29720732", "url": "https://pubmed.ncbi.nlm.nih.gov/29720732" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 654, "end_pos": 654, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29720732", "url": "https://pubmed.ncbi.nlm.nih.gov/29720732" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr654", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.29720732", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cross-link regulation of precursor N-cadherin and FGFR1 by GDNF increases U251MG cell viability.", "journal": "Oncology reports", "date": "2018", "authors": "Tang CX, Gu YX, Liu XF, Tong SY, Ayanlaja AA, Gao Y, Ji GQ, Xiong Y, Huang LY, Gao DS", "reference": { "type": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18083107", "url": "https://pubmed.ncbi.nlm.nih.gov/18083107" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr653", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 654, "end_pos": 654, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29720732", "url": "https://pubmed.ncbi.nlm.nih.gov/29720732" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr654", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.29750313", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Crumbs3 is a critical factor that regulates invasion and metastasis of colon adenocarcinoma via the specific interaction with FGFR1.", "journal": "International journal of cancer", "date": "2019", "authors": "Iioka H, Saito K, Sakaguchi M, Tachibana T, Homma K, Kondo E", "reference": { "type": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18083107", "url": "https://pubmed.ncbi.nlm.nih.gov/18083107" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr653", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 654, "end_pos": 654, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29720732", "url": "https://pubmed.ncbi.nlm.nih.gov/29720732" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr654", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.30980524", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Crosstalk between p38 and Erk 1/2 in Downregulation of FGF1-Induced Signaling.", "journal": "International journal of molecular sciences", "date": "2019", "authors": "Zakrzewska M, Opalinski L, Haugsten EM, Otlewski J, Wiedlocha A", "reference": { "type": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18083107", "url": "https://pubmed.ncbi.nlm.nih.gov/18083107" }, { "database": "PubMed", "id": "16507368", "url": "https://pubmed.ncbi.nlm.nih.gov/16507368" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr653", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 654, "end_pos": 654, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" }, { "database": "PubMed", "id": "26097890", "url": "https://pubmed.ncbi.nlm.nih.gov/26097890" }, { "database": "PubMed", "id": "27783942", "url": "https://pubmed.ncbi.nlm.nih.gov/27783942" }, { "database": "PubMed", "id": "28806774", "url": "https://pubmed.ncbi.nlm.nih.gov/28806774" }, { "database": "PubMed", "id": "29720732", "url": "https://pubmed.ncbi.nlm.nih.gov/29720732" }, { "database": "PubMed", "id": "29750313", "url": "https://pubmed.ncbi.nlm.nih.gov/29750313" }, { "database": "PubMed", "id": "30980524", "url": "https://pubmed.ncbi.nlm.nih.gov/30980524" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "19665973", "url": "https://pubmed.ncbi.nlm.nih.gov/19665973" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr654", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 777, "end_pos": 777, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18411303", "url": "https://pubmed.ncbi.nlm.nih.gov/18411303" }, { "database": "PubMed", "id": "23405013", "url": "https://pubmed.ncbi.nlm.nih.gov/23405013" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "31146385", "url": "https://pubmed.ncbi.nlm.nih.gov/31146385" } ], "site_lbl": "Ser777", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.31013829", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cancer Mutations in FGFR2 Prevent a Negative Feedback Loop Mediated by the ERK1/2 Pathway.", "journal": "Cells", "date": "2019", "authors": "Szybowska P, Kostas M, Wesche J, Wiedlocha A, Haugsten EM", "reference": { "type": "PubMed", "id": "31146385", "url": "https://pubmed.ncbi.nlm.nih.gov/31146385" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 777, "end_pos": 777, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18411303", "url": "https://pubmed.ncbi.nlm.nih.gov/18411303" }, { "database": "PubMed", "id": "23405013", "url": "https://pubmed.ncbi.nlm.nih.gov/23405013" }, { "database": "PubMed", "id": "31013829", "url": "https://pubmed.ncbi.nlm.nih.gov/31013829" }, { "database": "PubMed", "id": "31146385", "url": "https://pubmed.ncbi.nlm.nih.gov/31146385" } ], "site_lbl": "Ser777", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 780, "end_pos": 780, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P21802", "url": "https://www.uniprot.org/uniprotkb/P21802" }, { "database": "PubMed", "id": "24275569", "url": "https://pubmed.ncbi.nlm.nih.gov/24275569" }, { "database": "iPTMnet", "id": "P21802", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21802" }, { "database": "PubMed", "id": "31146385", "url": "https://pubmed.ncbi.nlm.nih.gov/31146385" } ], "site_lbl": "Ser780", "uniprot_canonical_ac": "P21802-1" } ], "record_id": "pubmed.31146385", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Immunomodulation via FGFR inhibition augments FGFR1 targeting T-cell based antitumor immunotherapy for head and neck squamous cell carcinoma.", "journal": "Oncoimmunology", "date": "2022", "authors": "Kono Michihisa, Komatsuda Hiroki, Yamaki Hidekiyo, Kumai Takumi, Hayashi Ryusuke, Wakisaka Risa, Nagato Toshihiro, Ohkuri Takayuki, Kosaka Akemi, Ohara Kenzo, Kishibe Kan, Takahara Miki, Katada Akihiro, Hayashi Tatsuya, Kobayashi Hiroya, Harabuchi Yasuaki", "reference": { "type": "PubMed", "id": "35003900", "url": "https://pubmed.ncbi.nlm.nih.gov/35003900" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22455-1", "protein_name": "Fibroblast growth factor receptor 4", "gene_name": "FGFR4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35003900", "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": "Fibroblast growth receptor 1 is regulated by G-quadruplex in metastatic breast cancer.", "journal": "Communications biology", "date": "2024-08-09", "authors": "Lin Hang, Hassan Safdar Muhammad, Washburn Sarah, S Akhand Saeed, Dickerhoff Jonathan, Ayers Mitchell, Monteiro Marvis, Solorio Luis, Yang Danzhou, Wendt Michael K", "reference": { "type": "PubMed", "id": "39122837", "url": "https://pubmed.ncbi.nlm.nih.gov/39122837" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.39122837", "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": "Multivalent ligand-receptor binding interactions in the fibroblast growth factor system produce a cooperative growth factor and heparin mechanism for receptor dimerization.", "journal": "Biochemistry", "date": "1994", "authors": "Pantoliano M W, Horlick R A, Springer B A, Van Dyk D E, Tobery T, Wetmore D R, Lear J D, Nahapetian A T, Bradley J D, Sisk W P", "reference": { "type": "PubMed", "id": "7520751", "url": "https://pubmed.ncbi.nlm.nih.gov/7520751" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7520751", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Distinct role of 2-O-, N-, and 6-O-sulfate groups of heparin in the formation of the ternary complex with basic fibroblast growth factor and soluble FGF receptor-1.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1994", "authors": "Rusnati M, Coltrini D, Caccia P, Dell'Era P, Zoppetti G, Oreste P, Valsasina B, Presta M", "reference": { "type": "PubMed", "id": "8074689", "url": "https://pubmed.ncbi.nlm.nih.gov/8074689" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8074689", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Control of fibroblast growth factor receptor kinase signal transduction by heterodimerization of combinatorial splice variants.", "journal": "Molecular and cellular biology", "date": "1993-07", "authors": "Shi E, Kan M, Xu J, Wang F, Hou J, McKeehan W L", "reference": { "type": "PubMed", "id": "8321198", "url": "https://pubmed.ncbi.nlm.nih.gov/8321198" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 766, "end_pos": 766, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "IntAct", "id": "P11362", "url": "https://www.ebi.ac.uk/intact/interactors/id:P11362*" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18412956", "url": "https://pubmed.ncbi.nlm.nih.gov/18412956" }, { "database": "PubMed", "id": "1656221", "url": "https://pubmed.ncbi.nlm.nih.gov/1656221" }, { "database": "PubMed", "id": "12181353", "url": "https://pubmed.ncbi.nlm.nih.gov/12181353" }, { "database": "PubMed", "id": "8321198", "url": "https://pubmed.ncbi.nlm.nih.gov/8321198" }, { "database": "PubMed", "id": "22247553", "url": "https://pubmed.ncbi.nlm.nih.gov/22247553" } ], "site_lbl": "Tyr766", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.8321198", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of tyrosines 154 and 307 in the extracellular domain and 653 and 766 in the intracellular domain as phosphorylation sites in the heparin-binding fibroblast growth factor receptor tyrosine kinase (flg).", "journal": "Protein science : a publication of the Protein Society", "date": "1993", "authors": "Hou J, McKeehan K, Kan M, Carr SA, Huddleston MJ, Crabb JW, McKeehan WL", "reference": { "type": "PubMed", "id": "8443592", "url": "https://pubmed.ncbi.nlm.nih.gov/8443592" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 154, "end_pos": 154, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "8443592", "url": "https://pubmed.ncbi.nlm.nih.gov/8443592" } ], "site_lbl": "Tyr154", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 307, "end_pos": 307, "kinase_uniprot_canonical_ac": "P11362-1", "kinase_gene_name": "FGFR1", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "8443592", "url": "https://pubmed.ncbi.nlm.nih.gov/8443592" } ], "site_lbl": "Tyr307", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.8443592", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism.", "journal": "Cell", "date": "1996", "authors": "Mohammadi M, Schlessinger J, Hubbard S R", "reference": { "type": "PubMed", "id": "8752212", "url": "https://pubmed.ncbi.nlm.nih.gov/8752212" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8752212", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structure of a heparin-linked biologically active dimer of fibroblast growth factor.", "journal": "Nature", "date": "1998", "authors": "DiGabriele AD, Lax I, Chen DI, Svahn CM, Jaye M, Schlessinger J, Hendrickson WA", "reference": { "type": "PubMed", "id": "9655399", "url": "https://pubmed.ncbi.nlm.nih.gov/9655399" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9655399", "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": "Different tyrosine autophosphorylation requirements in fibroblast growth factor receptor-1 mediate urokinase-type plasminogen activator induction and mitogenesis.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Dell'Era P, Mohammadi M, Presta M", "reference": { "type": "PubMed", "id": "9880324", "url": "https://pubmed.ncbi.nlm.nih.gov/9880324" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 463, "end_pos": 463, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "IntAct", "id": "P11362", "url": "https://www.ebi.ac.uk/intact/interactors/id:P11362*" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "10464310", "url": "https://pubmed.ncbi.nlm.nih.gov/10464310" }, { "database": "PubMed", "id": "9880324", "url": "https://pubmed.ncbi.nlm.nih.gov/9880324" }, { "database": "PubMed", "id": "19224897", "url": "https://pubmed.ncbi.nlm.nih.gov/19224897" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr463", "uniprot_canonical_ac": "P11362-1" }, { "start_pos": 730, "end_pos": 730, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by autocatalysis", "evidence": [ { "database": "UniProtKB", "id": "P11362", "url": "https://www.uniprot.org/uniprotkb/P11362" }, { "database": "IntAct", "id": "P11362", "url": "https://www.ebi.ac.uk/intact/interactors/id:P11362*" }, { "database": "iPTMnet", "id": "P11362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11362" }, { "database": "PubMed", "id": "18412956", "url": "https://pubmed.ncbi.nlm.nih.gov/18412956" }, { "database": "PubMed", "id": "9880324", "url": "https://pubmed.ncbi.nlm.nih.gov/9880324" }, { "database": "PubMed", "id": "8622701", "url": "https://pubmed.ncbi.nlm.nih.gov/8622701" } ], "site_lbl": "Tyr730", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.9880324", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).", "journal": "Genomics", "date": "2003", "authors": "Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, Moore AT, Zhang K, Hunt DM", "reference": { "type": "PubMed", "id": "12659814", "url": "https://pubmed.ncbi.nlm.nih.gov/12659814" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86UR5-1", "protein_name": "Regulating synaptic membrane exocytosis protein 1", "gene_name": "RIMS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UR5", "url": "https://www.uniprot.org/uniprotkb/Q86UR5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12659814", "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": "C-terminal splice variants of P/Q-type Ca(2+) channel CaV2.1 alpha1 subunits are differentially regulated by Rab3-interacting molecule proteins.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Hirano M, Takada Y, Wong CF, Yamaguchi K, Kotani H, Kurokawa T, Mori MX, Snutch TP, Ronjat M, De Waard M, Mori Y", "reference": { "type": "PubMed", "id": "28377503", "url": "https://pubmed.ncbi.nlm.nih.gov/28377503" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86UR5-1", "protein_name": "Regulating synaptic membrane exocytosis protein 1", "gene_name": "RIMS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ26-6", "protein_name": "Regulating synaptic membrane exocytosis protein 2", "gene_name": "RIMS2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UR5", "url": "https://www.uniprot.org/uniprotkb/Q86UR5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28377503", "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": "Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility.", "journal": "Breast cancer research and treatment", "date": "2009", "authors": "Osorio A, Barroso A, Garcia MJ, Martinez-Delgado B, Urioste M, Benitez J", "reference": { "type": "PubMed", "id": "18270812", "url": "https://pubmed.ncbi.nlm.nih.gov/18270812" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UWZ7-1", "protein_name": "BRCA1-A complex subunit Abraxas 1", "gene_name": "ABRAXAS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UWZ7", "url": "https://www.uniprot.org/uniprotkb/Q6UWZ7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18270812", "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": [] } ] } ]