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Autoimmun.", "date": "2012", "authors": "Lahiri Ayan, Pochard Pierre, Le Pottier La\u00ebtitia, Tob\u00f3n Gabriel J, Bendaoud Boutahar, Youinou Pierre, Pers Jacques-Olivier", "reference": { "type": "PubMed", "id": "22749832", "url": "https://pubmed.ncbi.nlm.nih.gov/22749832" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y275-1", "protein_name": "Tumor necrosis factor ligand superfamily member 13B", "gene_name": "TNFSF13B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y275", "url": "https://www.uniprot.org/uniprotkb/Q9Y275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22749832", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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Reduces binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with 'E-108'; 'R-109' and 'E-142' in LTB (subunit 1). Abolishes binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with 'E-108'; 'R-109'; 'E-142' and 'A-170' in LTB (subunit 1), and 'E-108'; 'R-109' and 'E-142' in LTB (subunit 2).", "evidence": [ { "database": "UniProtKB", "id": "P01374", "url": "https://www.uniprot.org/uniprotkb/P01374" }, { "database": "PubMed", "id": "24248355", "url": "https://pubmed.ncbi.nlm.nih.gov/24248355" } ], "uniprot_canonical_ac": "P01374-1" }, { "start_pos": 108, "end_pos": 108, "sequence_org": "K", "sequence_mut": "E", "comment": "In subunit 1; reduces binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with R-109 and E-142, and 'A-142' in LTA. In subunit 2; reduces binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with R-109 and E-142, and with 'A-170' in LTB (subunit 1). In subunit 1; abolishes binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with R-109; E-142 and A-170, and with 'E-108'; 'R-109' and 'E-142' in LTB (subunit 2), and with 'A-142' in LTA.", "evidence": [ { "database": "UniProtKB", "id": "Q06643", "url": "https://www.uniprot.org/uniprotkb/Q06643" }, { "database": "PubMed", "id": "24248355", "url": "https://pubmed.ncbi.nlm.nih.gov/24248355" } ], "uniprot_canonical_ac": "Q06643-1" }, { "start_pos": 109, "end_pos": 109, "sequence_org": "E", "sequence_mut": "R", "comment": "In subunit 1; reduces binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with E-108 and E-142, and 'A-142' in LTA. In subunit 2; reduces binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with E-108 and E-142, and with 'A-170' in LTB (subunit 1). In subunit 1; abolishes binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with E-108; E-142 and A-170, and with 'E-108'; 'R-109' and 'E-142' in LTB (subunit 2), and with 'A-142' in LTA.", "evidence": [ { "database": "UniProtKB", "id": "Q06643", "url": "https://www.uniprot.org/uniprotkb/Q06643" }, { "database": "PubMed", "id": "24248355", "url": "https://pubmed.ncbi.nlm.nih.gov/24248355" } ], "uniprot_canonical_ac": "Q06643-1" }, { "start_pos": 142, "end_pos": 142, "sequence_org": "R", "sequence_mut": "E", "comment": "In subunit 1; reduces binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with E-108 and R-109, and 'A-142' in LTA. In subunit 2; reduces binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with E-108 and R-109, and with 'A-170' in LTB (subunit 1). In subunit 1; abolishes binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with E-108; R-109 and A-170, and with 'E-108'; 'R-109' and 'E-142' in LTB (subunit 2), and with 'A-142' in LTA.", "evidence": [ { "database": "UniProtKB", "id": "Q06643", "url": "https://www.uniprot.org/uniprotkb/Q06643" }, { "database": "PubMed", "id": "24248355", "url": "https://pubmed.ncbi.nlm.nih.gov/24248355" } ], "uniprot_canonical_ac": "Q06643-1" }, { "start_pos": 170, "end_pos": 170, "sequence_org": "Y", "sequence_mut": "A", "comment": "In subunit 2; no significant effect on binding of LTA(1)-LTB(2) to LTBR and LTBR-mediated NF-kappa-B signaling activation. In subunit 1; reduces binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with 'E-108', 'R-109' and 'E-142' in LTB (subunit 2). In subunit 1, abolishes binding of LTA(1)-LTB(2) to LTBR and abolishes LTBR-mediated NF-kappa-B signaling activation; when associated with E-108; R-109 and E-142, and with 'E-108'; 'R-109' and 'E-142' in LTB (subunit 2), and with 'A-142' in LTA.", "evidence": [ { "database": "UniProtKB", "id": "Q06643", "url": "https://www.uniprot.org/uniprotkb/Q06643" }, { "database": "PubMed", "id": "24248355", "url": "https://pubmed.ncbi.nlm.nih.gov/24248355" } ], "uniprot_canonical_ac": "Q06643-1" } ], "record_id": "pubmed.24248355", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 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"uniprot_canonical_ac": "P01374-1", "protein_name": "Lymphotoxin-alpha", "gene_name": "LTA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96RJ3-1", "protein_name": "Tumor necrosis factor receptor superfamily member 13C", "gene_name": "TNFRSF13C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13490-1", "protein_name": "Baculoviral IAP repeat-containing protein 2", "gene_name": "BIRC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP84-1", "protein_name": "Tumor necrosis factor receptor superfamily member 12A", "gene_name": "TNFRSF12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13489-1", "protein_name": "Baculoviral IAP repeat-containing protein 3", "gene_name": "BIRC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P36941-1", "protein_name": "Tumor necrosis factor receptor superfamily member 3", "gene_name": "LTBR", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43508-1", "protein_name": "Tumor necrosis factor ligand superfamily member 12", "gene_name": "TNFSF12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06643-1", "protein_name": "Lymphotoxin-beta", "gene_name": "LTB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99558-1", "protein_name": "Mitogen-activated protein kinase kinase kinase 14", "gene_name": "MAP3K14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13114-1", "protein_name": "TNF receptor-associated factor 3", "gene_name": "TRAF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14788-1", "protein_name": "Tumor necrosis factor ligand superfamily member 11", "gene_name": "TNFSF11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6Q6-1", "protein_name": "Tumor necrosis factor receptor superfamily member 11A", "gene_name": "TNFRSF11A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12933-1", "protein_name": "TNF receptor-associated factor 2", "gene_name": "TRAF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y275", "url": "https://www.uniprot.org/uniprotkb/Q9Y275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24298274", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Non-Canonical NF-kappaB Signaling Initiated by BAFF Influences B Cell Biology at Multiple Junctures.", "journal": "Frontiers in immunology", "date": "2014", "authors": "Gardam S, Brink R", "reference": { "type": "PubMed", "id": "24432023", "url": "https://pubmed.ncbi.nlm.nih.gov/24432023" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y275-1", "protein_name": "Tumor necrosis factor ligand superfamily member 13B", "gene_name": "TNFSF13B", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43557-1", "protein_name": "Tumor necrosis factor ligand superfamily member 14", "gene_name": "TNFSF14", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29965-1", "protein_name": "CD40 ligand", "gene_name": "CD40LG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P01374-1", "protein_name": "Lymphotoxin-alpha", "gene_name": "LTA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96RJ3-1", "protein_name": "Tumor necrosis factor receptor superfamily member 13C", "gene_name": "TNFRSF13C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13490-1", "protein_name": "Baculoviral IAP repeat-containing protein 2", "gene_name": "BIRC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP84-1", "protein_name": "Tumor necrosis factor receptor superfamily member 12A", "gene_name": "TNFRSF12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13489-1", "protein_name": "Baculoviral IAP repeat-containing protein 3", "gene_name": "BIRC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P36941-1", "protein_name": "Tumor necrosis factor receptor superfamily member 3", "gene_name": "LTBR", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43508-1", "protein_name": "Tumor necrosis factor ligand superfamily member 12", "gene_name": "TNFSF12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06643-1", "protein_name": "Lymphotoxin-beta", "gene_name": "LTB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99558-1", "protein_name": "Mitogen-activated protein kinase kinase kinase 14", "gene_name": "MAP3K14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13114-1", "protein_name": "TNF receptor-associated factor 3", "gene_name": "TRAF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14788-1", "protein_name": "Tumor necrosis factor ligand superfamily member 11", "gene_name": "TNFSF11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6Q6-1", "protein_name": "Tumor necrosis factor receptor superfamily member 11A", "gene_name": "TNFRSF11A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12933-1", "protein_name": "TNF receptor-associated factor 2", "gene_name": "TRAF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y275", "url": "https://www.uniprot.org/uniprotkb/Q9Y275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24432023", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": 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Genet.", "date": "2003", "authors": "Meng X, Zhang C, Chen J, Peng S, Cao Y, Ying K, Xie Y, Mao Y", "reference": { "type": "PubMed", "id": "12670024", "url": "https://pubmed.ncbi.nlm.nih.gov/12670024" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y320-1", "protein_name": "Thioredoxin-related transmembrane protein 2", "gene_name": "TMX2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y320", "url": "https://www.uniprot.org/uniprotkb/Q9Y320" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12670024", "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" ] }, { 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microlissencephaly.", "journal": "Journal of medical genetics", "date": "2020", "authors": "Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, Gleeson JG", "reference": { "type": "PubMed", "id": "31586943", "url": "https://pubmed.ncbi.nlm.nih.gov/31586943" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y320-1", "protein_name": "Thioredoxin-related transmembrane protein 2", "gene_name": "TMX2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y320", "url": "https://www.uniprot.org/uniprotkb/Q9Y320" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31586943", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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X, Li Y, Xu M, Wang X, Jing Y, Guo W, Yang C", "reference": { "type": "PubMed", "id": "28860274", "url": "https://pubmed.ncbi.nlm.nih.gov/28860274" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "A4D1P6-1", "protein_name": "WD repeat-containing protein 91", "gene_name": "WDR91", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7TMQ7-1", "protein_name": "WD repeat-containing protein 91", "gene_name": "Wdr91", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprotkb/A4D1P6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28860274", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ 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targeted differential RNA display method to select for mRNA subsets.", "journal": "Nucleic Acids Res.", "date": "1997", "authors": "Gonsky R, Knauf J A, Elisei R, Wang J W, Su S, Fagin J A", "reference": { "type": "PubMed", "id": "9380504", "url": "https://pubmed.ncbi.nlm.nih.gov/9380504" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14709-1", "protein_name": "Zinc finger protein 197", "gene_name": "ZNF197", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14709", "url": "https://www.uniprot.org/uniprotkb/O14709" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9380504", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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[] } ] }, { "title": "Characterization of the gene for dbpA, a family member of the nucleic-acid-binding proteins containing a cold-shock domain.", "journal": "Eur. J. Biochem.", "date": "1995", "authors": "Kudo S, Mattei M G, Fukuda M", "reference": { "type": "PubMed", "id": "7628487", "url": "https://pubmed.ncbi.nlm.nih.gov/7628487" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P16989-1", "protein_name": "Y-box-binding protein 3", "gene_name": "YBX3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P16989", "url": "https://www.uniprot.org/uniprotkb/P16989" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7628487", "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": [ { 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expressed in human T cells.", "journal": "New Biol.", "date": "1990", "authors": "Thiesen H J", "reference": { "type": "PubMed", "id": "2288909", "url": "https://pubmed.ncbi.nlm.nih.gov/2288909" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P17025-1", "protein_name": "Zinc finger protein 182", "gene_name": "ZNF182", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17019-1", "protein_name": "Zinc finger protein 708", "gene_name": "ZNF708", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21506-1", "protein_name": "Zinc finger protein 10", "gene_name": "ZNF10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17032-1", "protein_name": "Zinc finger protein 37A", "gene_name": "ZNF37A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17040-1", "protein_name": "Zinc finger and SCAN domain-containing protein 20", "gene_name": "ZSCAN20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17036-1", "protein_name": "Zinc finger protein 3", "gene_name": "ZNF3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17041-1", "protein_name": "Zinc finger protein 32", "gene_name": "ZNF32", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17031-1", "protein_name": "Zinc finger protein 26", "gene_name": "ZNF26", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17024-1", "protein_name": "Zinc finger protein 20", "gene_name": "ZNF20", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06732-1", "protein_name": "Zinc finger protein 33B", "gene_name": "ZNF33B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17014-1", "protein_name": "Zinc finger protein 12", "gene_name": "ZNF12", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17028-1", "protein_name": "Zinc finger protein 24", "gene_name": "ZNF24", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17097-1", "protein_name": "Zinc finger protein 7", "gene_name": "ZNF7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17038-1", "protein_name": "Zinc finger protein 43", "gene_name": 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"gene_name": "ZNF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17029-1", "protein_name": "Zinc finger protein with KRAB and SCAN domains 1", "gene_name": "ZKSCAN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17027-1", "protein_name": "Zinc finger protein 23", "gene_name": "ZNF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17020-1", "protein_name": "Zinc finger protein 16", "gene_name": "ZNF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17017-1", "protein_name": "Zinc finger protein 14", "gene_name": "ZNF14", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17026-1", "protein_name": "Zinc finger protein 22", "gene_name": "ZNF22", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z340-1", "protein_name": "Zinc finger protein 551", "gene_name": "ZNF551", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17021-1", "protein_name": "Zinc finger protein 17", "gene_name": "ZNF17", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 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"Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.", "journal": "Epilepsia", "date": "2013", "authors": "Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF", "reference": { "type": "PubMed", "id": "23647072", "url": "https://pubmed.ncbi.nlm.nih.gov/23647072" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P17025-1", "protein_name": "Zinc finger protein 182", "gene_name": "ZNF182", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94989-1", "protein_name": "Rho guanine nucleotide exchange factor 15", "gene_name": "ARHGEF15", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35498-1", "protein_name": "Sodium channel protein type 1 subunit alpha", "gene_name": "SCN1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NCM2-1", "protein_name": "Voltage-gated delayed 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"8586441", "url": "https://pubmed.ncbi.nlm.nih.gov/8586441" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P51786-1", "protein_name": "Zinc finger protein 157", "gene_name": "ZNF157", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51786", "url": "https://www.uniprot.org/uniprotkb/P51786" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8586441", "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": [ { 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"uniprot_canonical_ac": "P58501-1", "protein_name": "PAX3- and PAX7-binding protein 1", "gene_name": "Paxbp1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P58500-1", "protein_name": "MAP3K7 C-terminal-like protein", "gene_name": "Map3k7cl", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P57077-4", "protein_name": "MAP3K7 C-terminal-like protein", "gene_name": "MAP3K7CL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y5B6-1", "protein_name": "PAX3- and PAX7-binding protein 1", "gene_name": "PAXBP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9D309-1", "protein_name": "Protein FAM3B", "gene_name": "Fam3b", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P18583-1", "protein_name": "Protein SON", "gene_name": "SON", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NVD3-1", "protein_name": "SET domain-containing protein 4", "gene_name": "SETD4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P58511-1", "protein_name": "Small integral membrane protein 11", 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"tax_name": "Human" }, { "uniprot_canonical_ac": "Q91VH6-1", "protein_name": "Protein MEMO1", "gene_name": "Memo1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P58499-1", "protein_name": "Protein FAM3B", "gene_name": "FAM3B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y316-1", "protein_name": "Protein MEMO1", "gene_name": "MEMO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P58659-1", "protein_name": "Protein eva-1 homolog C", "gene_name": "Eva1c", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q99J19-1", "protein_name": "Small integral membrane protein 11", "gene_name": "Smim11", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P58557", "url": "https://www.uniprot.org/uniprotkb/P58557" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11707072", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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}, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Antibody-based protein profiling of the human chromosome 21.", "journal": "Mol. Cell. Proteomics", "date": "2012", "authors": "Uhl\u00e9n Mathias, Oksvold Per, \u00c4lgen\u00e4s Cajsa, Hamsten Carl, Fagerberg Linn, Klevebring Daniel, Lundberg Emma, Odeberg Jacob, Pont\u00e9n Fredrik, Kondo Tadashi, Sivertsson \u00c5sa", "reference": { "type": "PubMed", "id": "22042635", "url": "https://pubmed.ncbi.nlm.nih.gov/22042635" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P58557-1", "protein_name": "Endoribonuclease YbeY", "gene_name": "YBEY", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H9P2-1", "protein_name": "Chondrolectin", "gene_name": "CHODL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NSI5-1", "protein_name": "Immunoglobulin superfamily member 5", "gene_name": "IGSF5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P45844-1", "protein_name": "ATP-binding cassette sub-family G member 1", "gene_name": "ABCG1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "C21orf57 is a human homologue of bacterial YbeY proteins.", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "Ghosal A, Kohrer C, Babu VMP, Yamanaka K, Davies BW, Jacob AI, Ferullo DJ, Gruber CC, Vercruysse M, Walker GC", "reference": { "type": "PubMed", "id": "28153719", "url": "https://pubmed.ncbi.nlm.nih.gov/28153719" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P58557-1", "protein_name": "Endoribonuclease YbeY", "gene_name": "YBEY", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P58557", "url": "https://www.uniprot.org/uniprotkb/P58557" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 118, "end_pos": 118, "sequence_org": "H", "sequence_mut": "A", "comment": "No endonuclease activity.", "evidence": [ { "database": "UniProtKB", "id": "P58557", "url": 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}, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "YbeY, eminence grise of ribosome biogenesis.", "journal": "Biochemical Society transactions", "date": "2021", "authors": "Liao Z, Schelcher C, Smirnov A", "reference": { "type": "PubMed", "id": "33929506", "url": "https://pubmed.ncbi.nlm.nih.gov/33929506" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P58557-1", "protein_name": "Endoribonuclease YbeY", "gene_name": "YBEY", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P58557", "url": "https://www.uniprot.org/uniprotkb/P58557" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33929506", "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 }, { 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0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "YbeY is required for ribosome small subunit assembly and tRNA processing in human mitochondria.", "journal": "Nucleic acids research", "date": "2021", "authors": "D'Souza AR, Van Haute L, Powell CA, Mutti CD, Palenikova P, Rebelo-Guiomar P, Rorbach J, Minczuk M", "reference": { "type": "PubMed", "id": "34037799", "url": "https://pubmed.ncbi.nlm.nih.gov/34037799" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P58557-1", "protein_name": "Endoribonuclease YbeY", "gene_name": "YBEY", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P58557", "url": "https://www.uniprot.org/uniprotkb/P58557" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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Shasha, Chen Biao, Xiao Meng, Li Yingying, Liao Yuan, Rai Kul Raj, Zhao Zhonghui, Ouyang Jing, Pan Qidong, Zhang Lianfeng, Huang Shile, Chen Ji-Long", "reference": { "type": "PubMed", "id": "34054851", "url": "https://pubmed.ncbi.nlm.nih.gov/34054851" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q0VG73-1", "protein_name": "Putative protein RDUR", "gene_name": "RDUR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q0VG73", "url": "https://www.uniprot.org/uniprotkb/Q0VG73" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34054851", "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", 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "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 the Cryptic HLA-I Immunopeptidome.", "journal": "Cancer immunology research", "date": "2020-08", "authors": "Erhard Florian, D\u00f6lken Lars, Schilling Bastian, Schlosser Andreas", "reference": { "type": "PubMed", "id": "32561536", "url": "https://pubmed.ncbi.nlm.nih.gov/32561536" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q1RN00-1", "protein_name": "Uncharacterized protein NECTIN3-AS1", "gene_name": "NECTIN3-AS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZRM9-1", "protein_name": "Putative uncharacterized protein FLJ46235", "gene_name": "", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96MT0-1", "protein_name": "Putative uncharacterized protein FLJ31958", "gene_name": "", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24928-1", "protein_name": "DNA-directed RNA polymerase II subunit RPB1", "gene_name": "POLR2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5T3I0-1", "protein_name": "G patch domain-containing protein 4", "gene_name": "GPATCH4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NB78-1", "protein_name": "Lysine-specific histone demethylase 2", "gene_name": "KDM1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00370-1", "protein_name": "LINE-1 retrotransposable element ORF2 protein", "gene_name": "", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NC38-1", "protein_name": "Putative uncharacterized protein ZNF436-AS1", "gene_name": "ZNF436-AS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BVR0-1", "protein_name": "Putative HERC2-like protein 3", "gene_name": "HERC2P3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DOY2-1", "protein_name": "Immunoglobulin lambda constant 2", "gene_name": "IGLC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P03905-1", "protein_name": "NADH-ubiquinone oxidoreductase chain 4", "gene_name": "MT-ND4", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8MQ11-1", "protein_name": "Postmeiotic segregation increased 2-like protein 5", "gene_name": "PMS2P5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6P435-1", "protein_name": "Putative uncharacterized SMG1-like protein", "gene_name": "", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UN81-1", "protein_name": "LINE-1 retrotransposable element ORF1 protein", "gene_name": "L1RE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P1A2-1", "protein_name": "Putative serine/threonine-protein phosphatase 4 regulatory subunit 1-like", "gene_name": "PPP4R1L", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GIP4-3", "protein_name": "Putative L-type amino acid transporter 1-like protein IMAA", "gene_name": "SLC7A5P2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5VT28-1", "protein_name": "Protein FAM27A/B/C", "gene_name": "FAM27B; FAM27C", "tax_name": "Human" }, { "uniprot_canonical_ac": "A0A0A0MT94-1", "protein_name": "T cell receptor beta joining 2-2", "gene_name": "TRBJ2-2", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NI72-1", "protein_name": "Putative neutrophil cytosol factor 1B", "gene_name": "NCF1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "A0A0A0MS15-1", "protein_name": "Immunoglobulin heavy variable 3-49", "gene_name": "IGHV3-49", "tax_name": "Human" }, { "uniprot_canonical_ac": "A0A0C4DH34-1", "protein_name": "Immunoglobulin heavy variable 4-28", "gene_name": "IGHV4-28", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95744-1", "protein_name": "Putative postmeiotic segregation increased 2-like protein 2", "gene_name": "PMS2P2", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NEC2-1", "protein_name": "Puromycin-sensitive aminopeptidase-like protein", "gene_name": "NPEPPSL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6MZN7-1", "protein_name": "HLA class I histocompatibility antigen protein P5", "gene_name": "HCP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "A0A5B9-1", "protein_name": "T cell receptor beta constant 2", "gene_name": "TRBC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P01848-1", "protein_name": "T cell receptor alpha chain constant", "gene_name": "TRAC", "tax_name": "Human" }, { "uniprot_canonical_ac": "B7Z8K6-1", "protein_name": "T cell receptor delta constant", "gene_name": "TRDC", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6NVU6-1", "protein_name": "Ufm1-specific protease 1", "gene_name": "UFSP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A0A0C4DH43-1", "protein_name": "Immunoglobulin heavy variable 2-70D", "gene_name": "IGHV2-70D", "tax_name": "Human" }, { "uniprot_canonical_ac": "P01893-1", "protein_name": "Putative HLA class I histocompatibility antigen, alpha chain H", "gene_name": "HLA-H", "tax_name": "Human" }, { "uniprot_canonical_ac": "A2NJV5-1", "protein_name": "Immunoglobulin kappa variable 2-29", "gene_name": "IGKV2-29", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NC97-1", "protein_name": "Putative protein ARB2BP", "gene_name": "ARB2BP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6VEQ5-1", "protein_name": "WAS protein family homolog 2", "gene_name": "WASH2P", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q1RN00", "url": "https://www.uniprot.org/uniprotkb/Q1RN00" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32561536", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": 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medicine", "date": "2001-06-04", "authors": "Kirchgessner H, Dietrich J, Scherer J, Isom\u00e4ki P, Korinek V, Hilgert I, Bruyns E, Leo A, Cope A P, Schraven B", "reference": { "type": "PubMed", "id": "11390434", "url": "https://pubmed.ncbi.nlm.nih.gov/11390434" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6PIZ9-1", "protein_name": "T-cell receptor-associated transmembrane adapter 1", "gene_name": "TRAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20963-1", "protein_name": "T-cell surface glycoprotein CD3 zeta chain", "gene_name": "CD247", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PIZ9", "url": "https://www.uniprot.org/uniprotkb/Q6PIZ9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11390434", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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"journal": "Scientific reports", "date": "2019", "authors": "Duarte VHR, Miranda CTOF, Cruz MS, de Araujo JNG, Duarte MKRN, Santos AMQSD, Santos ICCD, Santos JCD, da Silva AMG, de Oliveira JM, Paiva MSMO, de Oliveira Galvao MF, Rezende AA, Hirata MH, Hirata RDC, Luchessi AD, Silbiger VN", "reference": { "type": "PubMed", "id": "31076644", "url": "https://pubmed.ncbi.nlm.nih.gov/31076644" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UXN2-1", "protein_name": "Trem-like transcript 4 protein", "gene_name": "TREML4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXN2", "url": "https://www.uniprot.org/uniprotkb/Q6UXN2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31076644", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ 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"table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", 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"https://www.omim.org/entry/615249", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12" } ], "unlinked_id_list": [], "evidence": [ { "id": "0014101", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014101" }, { "id": "615249", "database": "MIM", "url": "https://www.omim.org/entry/615249" }, { "id": "POMK", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMK/#!details" }, { "id": "0111235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111235" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9H5K3-1" }, { "evidence": [ { "id": "rs397509386", "database": "dbSNP", "url": 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muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21." }, "synonyms": [ { "id": "DOID:0112381", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112381", "name": "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related", "description": "" }, { "id": "DOID:0112381", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112381", "name": "LGMD due to POMK deficiency", "description": "" }, { "id": "DOID:0112381", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112381", "name": "MDDGC12", "description": "" }, { "id": "DOID:0112381", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112381", "name": "Limb-girdle muscular dystrophy due to POMK deficiency", "description": "" }, { "id": "MONDO:0014489", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014489", "name": "limb-girdle muscular dystrophy due to POMK deficiency", "description": "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence." }, { "id": "MONDO:0014489", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014489", "name": "LGMD due to POMK deficiency", "description": "" }, { "id": "MONDO:0014489", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014489", "name": "MDDGC12", "description": "" }, { "id": "MONDO:0014489", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014489", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12", "description": "" }, { "id": "MIM:616094", "resource": "MIM", "url": "https://www.omim.org/entry/616094", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C12", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C12" } ], "unlinked_id_list": [], "evidence": [ { "id": "0014489", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014489" }, { "id": "616094", "database": "MIM", "url": "https://www.omim.org/entry/616094" }, { "id": "0112381", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112381" } ] }, { "disease_id": "DOID:0111235", "recommended_name": { "id": "DOID:0111235", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111235", "name": "congenital muscular dystrophy-dystroglycanopathy type A12", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21." }, "synonyms": [ { "id": "DOID:0111235", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111235", "name": "Walker-Warburg syndrome or muscle-eye-brain disease POMK-related", "description": "" }, { "id": "DOID:0111235", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111235", "name": "MDDGA12", "description": "" }, { "id": "DOID:0111235", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111235", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12", "description": "" }, { "id": "MONDO:0014101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014101", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene." }, { "id": "MONDO:0014101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014101", "name": "POMK muscular dystrophy-dystroglycanopathy, type A", "description": "" }, { "id": "MONDO:0014101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014101", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "description": "" }, { "id": "MONDO:0014101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014101", "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK", "description": "" }, { "id": "MONDO:0014101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014101", "name": "MDDGA12", "description": "" }, { "id": "MIM:615249", "resource": "MIM", "url": "https://www.omim.org/entry/615249", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12" } ], "unlinked_id_list": [], "evidence": [ { "id": "0014101", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014101" }, { "id": "615249", "database": "MIM", "url": "https://www.omim.org/entry/615249" }, { "id": "POMK", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMK/#!details" }, { "id": "0111235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111235" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000100000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "Q9H5K3-1" }, { "evidence": [ { "id": "Q9Y2B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2B1" }, { "id": "rs397514695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397514695" }, { "id": "rs397514695", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397514695" }, { "id": "rs397514695", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs397514695#frequency_tab" }, { "id": "rs397514695", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs397514695" }, { "id": "23519211", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23519211" }, { "id": "rs397514695", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs397514695" } ], "glycoeffect": [], "start_pos": 340, "end_pos": 340, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "12", "chr_pos": "63808778", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R340", "disease": [ { "disease_id": "DOID:9256", 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"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, 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"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": 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Part A", "date": "2020", "authors": "Preiksaitiene E, Voisin N, Gueneau L, Benusiene E, Krasovskaja N, Blazyte EM, Ambrozaityte L, Rancelis T, Reymond A, Kucinskas V", "reference": { "type": "PubMed", "id": "31833209", "url": "https://pubmed.ncbi.nlm.nih.gov/31833209" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H5K3-1", "protein_name": "Protein O-mannose kinase", "gene_name": "POMK", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5K3", "url": "https://www.uniprot.org/uniprotkb/Q9H5K3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31833209", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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}, { "uniprot_canonical_ac": "P25445-1", "protein_name": "Tumor necrosis factor receptor superfamily member 6", "gene_name": "FAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86XT9-1", "protein_name": "Insulin-like growth factor-binding protein 3 receptor", "gene_name": "TMEM219", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBN6-1", "protein_name": "Tumor necrosis factor receptor superfamily member 10D", "gene_name": "TNFRSF10D", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14763-1", "protein_name": "Tumor necrosis factor receptor superfamily member 10B", "gene_name": "TNFRSF10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13625-1", "protein_name": "Apoptosis-stimulating of p53 protein 2", "gene_name": "TP53BP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04637-1", "protein_name": "Cellular tumor antigen p53", "gene_name": "TP53", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", 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"count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Induction of the growth inhibitor IGF-binding protein 3 by p53.", "journal": "Nature", "date": "1995", "authors": "Buckbinder L, Talbott R, Velasco-Miguel S, Takenaka I, Faha B, Seizinger BR, Kley N", "reference": { "type": "PubMed", "id": "7566179", "url": "https://pubmed.ncbi.nlm.nih.gov/7566179" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14798-1", "protein_name": "Tumor necrosis factor receptor superfamily member 10C", "gene_name": "TNFRSF10C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96KQ4-1", "protein_name": "Apoptosis-stimulating of p53 protein 1", "gene_name": "PPP1R13B", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00220-1", "protein_name": "Tumor necrosis factor receptor superfamily member 10A", "gene_name": "TNFRSF10A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17936-1", "protein_name": "Insulin-like growth factor-binding protein 3", "gene_name": "IGFBP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15350-1", "protein_name": "Tumor protein p73", "gene_name": "TP73", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H3D4-1", "protein_name": "Tumor protein 63", "gene_name": "TP63", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25445-1", "protein_name": "Tumor necrosis factor receptor superfamily member 6", "gene_name": "FAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86XT9-1", "protein_name": "Insulin-like growth factor-binding protein 3 receptor", "gene_name": "TMEM219", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBN6-1", "protein_name": "Tumor necrosis factor receptor superfamily member 10D", "gene_name": "TNFRSF10D", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14763-1", "protein_name": "Tumor necrosis factor receptor superfamily member 10B", "gene_name": "TNFRSF10B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13625-1", "protein_name": "Apoptosis-stimulating of p53 protein 2", "gene_name": "TP53BP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04637-1", "protein_name": "Cellular tumor antigen p53", "gene_name": "TP53", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14798", "url": "https://www.uniprot.org/uniprotkb/O14798" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7566179", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 12 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": 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"count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] } ]