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Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T", "reference": { "type": "PubMed", "id": "33565190", "url": "https://pubmed.ncbi.nlm.nih.gov/33565190" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q7L7X3-1", "protein_name": "Serine/threonine-protein kinase TAO1", "gene_name": "TAOK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5F2E8-1", "protein_name": "Serine/threonine-protein kinase TAO1", "gene_name": "Taok1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7L7X3", "url": "https://www.uniprot.org/uniprotkb/Q7L7X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33565190", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", 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"lincRNA00907 promotes NASH progression by targeting miRNA-942-5p/TAOK1.", "journal": "Aging", "date": "2024-04-10", "authors": "Du Gang, Jiang Zhaochen, Xia Tong, Liu Mingkun, Liu Zeyang, Zhou Huaxin, Zhang Hao, Zhai Xiangyu, Jin Bin", "reference": { "type": "PubMed", "id": "38613803", "url": "https://pubmed.ncbi.nlm.nih.gov/38613803" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q7L7X3-1", "protein_name": "Serine/threonine-protein kinase TAO1", "gene_name": "TAOK1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7L7X3", "url": "https://www.uniprot.org/uniprotkb/Q7L7X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38613803", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Isolation of TAO1, a protein kinase that activates MEKs in stress-activated protein kinase cascades.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Hutchison M, Berman KS, Cobb MH", "reference": { "type": "PubMed", "id": "9786855", "url": "https://pubmed.ncbi.nlm.nih.gov/9786855" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q7L7X3-1", "protein_name": "Serine/threonine-protein kinase TAO1", "gene_name": "TAOK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O88664-1", "protein_name": "Serine/threonine-protein kinase TAO1", "gene_name": "Taok1", "tax_name": "Rat" }, { "uniprot_canonical_ac": "P46734-1", "protein_name": "Dual specificity mitogen-activated protein kinase kinase 3", "gene_name": "MAP2K3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5F2E8-1", "protein_name": "Serine/threonine-protein kinase TAO1", "gene_name": "Taok1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7L7X3", "url": "https://www.uniprot.org/uniprotkb/Q7L7X3" } ], "common_name": "Human", 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "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 mutated transporters associated with antigen-processing 2 on characteristic major histocompatibility complex binding peptides: analysis using electrospray ionization tandem mass spectrometry.", "journal": "Rapid communications in mass spectrometry : RCM", "date": "2004", "authors": "Kageyama G, Kawano S, Kanagawa S, Kondo S, Sugita M, Nakanishi T, Shimizu A, Kumagai S", "reference": { "type": "PubMed", "id": "15116427", "url": "https://pubmed.ncbi.nlm.nih.gov/15116427" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99576-1", "protein_name": "TSC22 domain family protein 3", "gene_name": "TSC22D3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49591-1", "protein_name": "Serine--tRNA ligase, cytoplasmic", "gene_name": "SARS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62136-1", "protein_name": "Serine/threonine-protein phosphatase PP1-alpha catalytic subunit", "gene_name": "PPP1CA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13547-1", "protein_name": "Histone deacetylase 1", "gene_name": "HDAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P84098-1", "protein_name": "Large ribosomal subunit protein eL19", "gene_name": "RPL19", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16633-1", "protein_name": "POU domain class 2-associating factor 1", "gene_name": "POU2AF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49720-1", "protein_name": "Proteasome subunit beta type-3", "gene_name": "PSMB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P23921-1", "protein_name": "Ribonucleoside-diphosphate reductase large subunit", "gene_name": "RRM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15371-1", "protein_name": "Eukaryotic translation initiation factor 3 subunit D", "gene_name": "EIF3D", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09012-1", "protein_name": "U1 small nuclear ribonucleoprotein A", "gene_name": "SNRPA", "tax_name": "Human" }, { 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Cell. Biochem.", "date": "2016", "authors": "Pepin A, Espinasse MA, Latre de Late P, Szely N, Pallardy M, Biola-Vidamment A", "reference": { "type": "PubMed", "id": "26752201", "url": "https://pubmed.ncbi.nlm.nih.gov/26752201" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99576-1", "protein_name": "TSC22 domain family protein 3", "gene_name": "TSC22D3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15714-1", "protein_name": "TSC22 domain family protein 1", "gene_name": "TSC22D1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Z2S7-1", "protein_name": "TSC22 domain family protein 3", "gene_name": "Tsc22d3", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P62500-1", "protein_name": "TSC22 domain family protein 1", "gene_name": "Tsc22d1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99576", "url": "https://www.uniprot.org/uniprotkb/Q99576" } ], "common_name": 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Biophys. 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Biophys. Acta", "date": "2013", "authors": "Hanein S, Garcia M, Fares-Taie L, Serre V, De Keyzer Y, Delaveau T, Perrault I, Delphin N, Gerber S, Schmitt A, Masse JM, Munnich A, Kaplan J, Devaux F, Rozet JM", "reference": { "type": "PubMed", "id": "23500070", "url": "https://pubmed.ncbi.nlm.nih.gov/23500070" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H061-1", "protein_name": "Transmembrane protein 126A", "gene_name": "TMEM126A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H061", "url": "https://www.uniprot.org/uniprotkb/Q9H061" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23500070", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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"https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": 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"https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 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}, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, 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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. 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It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0111908", "recommended_name": { "id": "DOID:0111908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111908", "name": "thrombophilia due to thrombomodulin defect", "description": "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21." }, "synonyms": [ { "id": "DOID:0111908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111908", "name": "THBD-related bleeding disorder", "description": "" }, { "id": "DOID:0111908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111908", "name": "THBD-related coagulopathy", 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"http://gnomad.broadinstitute.org/awesome?query=rs41348347" }, { "id": "10460600", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10460600" }, { "id": "11986219", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11986219" }, { "id": "12139752", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12139752" }, { "id": "7811989", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7811989" } ], "glycoeffect": [], "start_pos": 486, "end_pos": 486, "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "20", "chr_pos": "23048049", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D486", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0111908", "recommended_name": { "id": "DOID:0111908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111908", "name": 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LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay O, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH", "reference": { "type": "PubMed", "id": "28384794", "url": "https://pubmed.ncbi.nlm.nih.gov/28384794" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NX18-1", "protein_name": "Succinate dehydrogenase assembly factor 2, mitochondrial", "gene_name": "SDHAF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NX18", "url": "https://www.uniprot.org/uniprotkb/Q9NX18" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28384794", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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