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"sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14663127", "evidence": [ { "id": "rs581566583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581566583" } ] }, { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14663126", "evidence": [ { "id": "rs583623930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583623930" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Pro78", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14663061", "evidence": [ { "id": "rs262623770", "database": "dbSNP", "url": 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7", "disease": [ { "disease_id": "DOID:1508", "name": "candidiasis", "description": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.", "url": "https://disease-ontology.org/term/DOID:1508", "evidence": [ { "id": "1508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1508" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation", "id": "GO:0002361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002361", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "leukocyte migration involved in immune response", "id": "GO:0002522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002522", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "positive regulation of leukocyte tethering or rolling", "id": "GO:1903238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903238", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "positive regulation of leukocyte adhesion to vascular endothelial cell", "id": "GO:1904996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904996", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "glycoprotein biosynthetic process", "id": "GO:0009101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009101", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "leukocyte migration involved in inflammatory response", "id": "GO:0002523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002523", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "ceramide metabolic process", "id": "GO:0006672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006672", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "lymphocyte migration into lymphoid organs", "id": "GO:0097021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097021", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "regulation of insulin receptor signaling pathway", "id": "GO:0046626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046626", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "lymphocyte migration into lymph node", "id": "GO:0097022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097022", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "positive regulation of neutrophil migration", "id": "GO:1902624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902624", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "regulation of leukocyte adhesion to vascular endothelial cell", "id": "GO:1904994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904994", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": "regulation of neutrophil extravasation", "id": "GO:2000389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000389", "evidence": [ { "database": "UniProtKB", "id": "Q11131", "url": "https://www.uniprot.org/uniprotkb/Q11131" } ], "pmid": "" }, { "name": 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passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "8", "chr_pos": "123327298", "evidence": [ { "id": "rs3388998130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388998130" } ] } ] }, { "uniprot_canonical_ac": "Q571E4-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Tyr188", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "8", "chr_pos": "123326074", "evidence": [ { "id": "rs3388998113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388998113" } ] } ] }, { "uniprot_canonical_ac": "Q571E4-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Gln204", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "8", "chr_pos": "123326026", "evidence": [ { "id": "rs3399702051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399702051" } ] } ] }, { "uniprot_canonical_ac": "Q571E4-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Leu205", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "8", "chr_pos": "123326023", "evidence": [ { "id": "rs3399717421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399717421" } ] } ] }, { "uniprot_canonical_ac": "Q571E4-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Thr207", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "8", "chr_pos": "123326016", "evidence": [ { "id": "rs244939203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244939203" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "8", "chr_pos": "123326017", "evidence": [ { "id": "rs265672854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265672854" } ] } ] }, { "uniprot_canonical_ac": "Q571E4-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Asp212", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "8", "chr_pos": "123325896", "evidence": [ { "id": "rs3389016079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389016079" } ] } ] }, { "uniprot_canonical_ac": "Q571E4-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Gln215", 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Nearly abolishes enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN3", "url": "https://www.uniprot.org/uniprotkb/Q8BHN3" }, { "database": "PubMed", "id": "27462106", "url": "https://glygen.org/publication/PubMed/27462106" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN3-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Pro836", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8892397", "evidence": [ { "id": "rs219834958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219834958" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN3-1", "start_pos": "837", "end_pos": "837", "site_lbl": "Gln837", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": 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"uniprot_canonical_ac": "Q8BHN3-1", "start_pos": "856", "end_pos": "856", "site_lbl": "Thr856", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8892576", "evidence": [ { "id": "rs3389481578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389481578" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN3-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Leu91", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8882318", "evidence": [ { "id": "rs3389529276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389529276" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN3-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Pro921", 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"evidence": [ { "id": "rs3408929182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408929182" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN3-1", "start_pos": "542", "end_pos": "542", "site_lbl": "Asp542", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN3", "url": "https://www.uniprot.org/uniprotkb/Q8BHN3" }, { "database": "PubMed", "id": "27462106", "url": "https://glygen.org/publication/PubMed/27462106" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHN3", "url": "https://www.uniprot.org/uniprotkb/Q8BHN3" }, { "database": "PubMed", "id": "27462106", "url": "https://glygen.org/publication/PubMed/27462106" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN3-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Asp618", "weight": 0.0, 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217836819" } ] } ] }, { "uniprot_canonical_ac": "Q8BVW0-1", "start_pos": "814", "end_pos": "814", "site_lbl": "Leu814", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "2", "chr_pos": "120287714", "evidence": [ { "id": "rs3388582804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388582804" } ] } ] }, { "uniprot_canonical_ac": "Q8BVW0-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Glu88", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "2", "chr_pos": "120249901", "evidence": [ { "id": "rs3388577209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388577209" } ] } ] }, { "uniprot_canonical_ac": "Q8BVW0-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Thr90", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "2", "chr_pos": "120249906", "evidence": [ { "id": "rs27443939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27443939" } ] } ] } ], "record_id": "Q8BVW0-1" }, { "uniprot_canonical_ac": "Q8C7B6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C7B6", "url": "https://www.uniprot.org/uniprotkb/Q8C7B6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 236, "chemical_mass": 26320.0, "gene_names": "Fbxl22;1110004B15Rik;Fbxl22", "protein_name": "F-box and leucine-rich protein 22", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8C7B6", "url": "https://www.uniprot.org/uniprotkb/Q8C7B6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C7B6", "url": "https://www.uniprot.org/uniprotkb/Q8C7B6" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q8C7B6", "url": "https://www.uniprot.org/uniprotkb/Q8C7B6" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q8C7B6", "url": "https://www.uniprot.org/uniprotkb/Q8C7B6" } ], "pmid": "" } ], "biological_process": [ { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q8C7B6", "url": "https://www.uniprot.org/uniprotkb/Q8C7B6" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q8C7B6", "url": "https://www.uniprot.org/uniprotkb/Q8C7B6" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q8C7B6", "url": "https://www.uniprot.org/uniprotkb/Q8C7B6" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8C7B6", "url": "https://www.uniprot.org/uniprotkb/Q8C7B6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8C7B6-1" }, { "uniprot_canonical_ac": "Q8CFA2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CFA2", "url": "https://www.uniprot.org/uniprotkb/Q8CFA2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 403, "chemical_mass": 44009.0, "gene_names": "Amt;Amt;EG434437;GCVT", "protein_name": "Aminomethyltransferase, mitochondrial", "disease": [ { "disease_id": "DOID:0061001", "name": "glycine encephalopathy 2", "description": "A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0061001", "evidence": [ { "id": "0061001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061001" } ], "weight": 0.0 }, { "disease_id": "DOID:9268", "name": "glycine encephalopathy", "description": "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.", "url": "https://disease-ontology.org/term/DOID:9268", "evidence": [ { "id": "9268", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9268" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CFA2", "url": "https://www.uniprot.org/uniprotkb/Q8CFA2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8CFA2", "url": "https://www.uniprot.org/uniprotkb/Q8CFA2" } ], "pmid": "" }, { "name": "glycine cleavage complex", "id": "GO:0005960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005960", "evidence": [ { 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"uniprot_canonical_ac": "Q8CFB4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CFB4", "url": "https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 590, "chemical_mass": 66930.0, "gene_names": "Gbp5;5330409J06Rik;Gbp5a;Gbp5", "protein_name": "Guanylate-binding protein 5", "disease": [], "biological_process": [ { "name": "positive regulation of interleukin-18 production", "id": "GO:0032741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032741", "evidence": [ { "database": "UniProtKB", "id": "Q8CFB4", "url": "https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q8CFB4", "url": "https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "pmid": "" }, { "name": "protein 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"UniProtKB", "id": "Q8CFB4", "url": "https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8CFB4", "url": "https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8CFB4", "url": "https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q8CFB4", "url": "https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8CFB4", "url": "https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "pmid": "" }, { "name": "symbiont cell surface", "id": "GO:0106139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106139", "evidence": [ { "database": "UniProtKB", "id": "Q8CFB4", "url": "https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8CFB4", "url": "https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8CFB4", "url": "https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CFB4", "url": 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"https://www.uniprot.org/uniprotkb/Q8CFB4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8CFB4-1" }, { "uniprot_canonical_ac": "Q8R322-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R322", "url": "https://www.uniprot.org/uniprotkb/Q8R322" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 699, "chemical_mass": 79574.0, "gene_names": "Gle1;4933405K21Rik;Gle1l;Gle1", "protein_name": "mRNA export factor GLE1", "disease": [ { "disease_id": "DOID:0060559", "name": "lethal congenital contracture syndrome 1", "description": "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0060559", "evidence": [ { "id": "0060559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060559" } ], "weight": 0.0 } ], "biological_process": [ { "name": "poly(A)+ mRNA export from nucleus", "id": "GO:0016973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016973", "evidence": [ { "database": "UniProtKB", "id": "Q8R322", "url": "https://www.uniprot.org/uniprotkb/Q8R322" } ], "pmid": "" }, { "name": "nucleocytoplasmic transport", "id": "GO:0006913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006913", "evidence": [ { "database": "UniProtKB", "id": "Q8R322", "url": "https://www.uniprot.org/uniprotkb/Q8R322" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8R322", "url": "https://www.uniprot.org/uniprotkb/Q8R322" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": 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[10090]" } ], "length": 492, "chemical_mass": 55441.0, "gene_names": "Mmp11;MMP-11;Mmp11;SL-3;ST3;Stmy3", "protein_name": "Stromelysin-3", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q02853", "url": "https://www.uniprot.org/uniprotkb/Q02853" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q02853", "url": "https://www.uniprot.org/uniprotkb/Q02853" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q02853", "url": "https://www.uniprot.org/uniprotkb/Q02853" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": 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"Q02853-1" }, { "uniprot_canonical_ac": "O08574-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08574", "url": "https://www.uniprot.org/uniprotkb/O08574" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 370, "chemical_mass": 39789.0, "gene_names": "Mesp2;Mesp2;bHLHc6", "protein_name": "Mesoderm posterior protein 2", "disease": [ { "disease_id": "DOID:0112362", "name": "spondylocostal dysostosis 2", "description": "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1.", "url": "https://disease-ontology.org/term/DOID:0112362", "evidence": [ { "id": "0112362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112362" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O08574", "url": "https://www.uniprot.org/uniprotkb/O08574" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "O08574", "url": "https://www.uniprot.org/uniprotkb/O08574" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O08574", "url": "https://www.uniprot.org/uniprotkb/O08574" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O08574", "url": "https://www.uniprot.org/uniprotkb/O08574" } ], "pmid": "" }, { "name": 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The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "weight": 0.0 }, { "disease_id": "DOID:10457", "name": "Legionnaires' disease", "description": "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.", "url": "https://disease-ontology.org/term/DOID:10457", "evidence": [ { "id": "10457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10457" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10887", "name": "lepromatous leprosy", "description": "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.", "url": "https://disease-ontology.org/term/DOID:10887", "evidence": [ { "id": "10887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10887" } ], "weight": 0.0 }, { "disease_id": "DOID:11162", "name": "respiratory failure", "description": "A lung disease characterized by inadequate gas exchange by the respiratory system.", "url": "https://disease-ontology.org/term/DOID:11162", "evidence": [ { "id": "11162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11162" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12177", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens.", "url": "https://disease-ontology.org/term/DOID:12177", "evidence": [ { "id": "12177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12177" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12375", "name": "bronchopneumonia", "description": "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.", "url": "https://disease-ontology.org/term/DOID:12375", "evidence": [ { "id": "12375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12375" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID:13166", "name": "allergic bronchopulmonary aspergillosis", "description": "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:13166", "evidence": [ { "id": "13166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13166" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13450", "name": "coccidioidomycosis", "description": "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules.", "url": "https://disease-ontology.org/term/DOID:13450", "evidence": [ { "id": "13450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13450" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1564", "name": "fungal infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.", "url": "https://disease-ontology.org/term/DOID:1564", "evidence": [ { "id": "1564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1564" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1733", "name": "cryptosporidiosis", "description": "A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.", "url": "https://disease-ontology.org/term/DOID:1733", "evidence": [ { "id": "1733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1733" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2272", "name": "vulvovaginal candidiasis", "description": "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.", "url": "https://disease-ontology.org/term/DOID:2272", "evidence": [ { "id": "2272", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2272" } ], "weight": 0.0 }, { "disease_id": "DOID:2297", "name": "leptospirosis", "description": "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.", "url": "https://disease-ontology.org/term/DOID:2297", "evidence": [ { "id": "2297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2297" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3385", "name": "bacterial vaginosis", "description": "A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.", "url": "https://disease-ontology.org/term/DOID:3385", "evidence": [ { "id": "3385", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3385" } ], "weight": 0.0 }, { "disease_id": "DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:57", "name": "aortic valve insufficiency", "description": "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.", "url": "https://disease-ontology.org/term/DOID:57", "evidence": [ { "id": "57", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:57" } ], "weight": 0.0 }, { "disease_id": "DOID:594", "name": "panic disorder", "description": "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.", "url": "https://disease-ontology.org/term/DOID:594", "evidence": [ { "id": "594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:594" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:853", "name": "polymyalgia rheumatica", "description": "A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck.", "url": "https://disease-ontology.org/term/DOID:853", "evidence": [ { "id": "853", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:853" } ], "weight": 0.0 }, { "disease_id": "DOID:8566", "name": "herpes simplex", "description": "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person.", "url": "https://disease-ontology.org/term/DOID:8566", "evidence": [ { "id": "8566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8566" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "phosphatidylinositol-4-phosphate binding", "id": "GO:0070273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "galactose binding", "id": "GO:0005534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005534", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "serine-type endopeptidase complex", "id": "GO:1905370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905370", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "symbiont cell surface", "id": "GO:0106139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106139", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "surfactant homeostasis", "id": "GO:0043129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043129", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "negative regulation of viral process", "id": "GO:0048525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048525", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "complement activation, lectin pathway", "id": "GO:0001867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001867", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "zymogen activation", "id": "GO:0031638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031638", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "killing by host of symbiont cells", "id": "GO:0051873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051873", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "positive regulation of complement activation", "id": "GO:0045917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045917", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "complement activation", "id": "GO:0006956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "positive regulation of opsonization", "id": "GO:1903028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903028", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "opsonization", "id": "GO:0008228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008228", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "cell surface pattern recognition receptor signaling pathway", "id": "GO:0002752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002752", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "activation of membrane attack complex", "id": "GO:0001905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001905", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P41317-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Asn210", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 210, "start_aa": "Asn", "end_pos": 210, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn210", "evidence": [ { "id": "P41317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P41317#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P41317-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Thr75", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 75, "start_aa": "Thr", "end_pos": 75, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr75", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P41317-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Thr212", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NNT->NNA); glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "19", "chr_pos": "30216823", "evidence": [ { "id": "rs237212485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237212485" } ] } ] }, { "uniprot_canonical_ac": "P41317-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Ser102", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.", "chr_id": "19", "chr_pos": "30215800", "evidence": [ { 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No effect on IFN-gamma production.", "evidence": [ { "database": "UniProtKB", "id": "P97378", "url": "https://www.uniprot.org/uniprotkb/P97378" }, { "database": "PubMed", "id": "12370372", "url": "https://glygen.org/publication/PubMed/12370372" } ] } ] }, { "uniprot_canonical_ac": "P97378-1", "start_pos": "727", "end_pos": "727", "site_lbl": "Tyr727", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No loss of IL12-induced STAT4 activation nor T-cell proliferation. No effect on IFN-gamma production.", "evidence": [ { "database": "UniProtKB", "id": "P97378", "url": "https://www.uniprot.org/uniprotkb/P97378" }, { "database": "PubMed", "id": "12370372", "url": "https://glygen.org/publication/PubMed/12370372" } ] } ] }, { "uniprot_canonical_ac": "P97378-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Tyr737", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No loss of IL12-induced STAT4 activation nor T-cell proliferation. No effect on IFN-gamma production.", "evidence": [ { "database": "UniProtKB", "id": "P97378", "url": "https://www.uniprot.org/uniprotkb/P97378" }, { "database": "PubMed", "id": "12370372", "url": "https://glygen.org/publication/PubMed/12370372" } ] } ] }, { "uniprot_canonical_ac": "P97378-1", "start_pos": "748", "end_pos": "748", "site_lbl": "Tyr748", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No loss of IL12-induced STAT4 activation nor T-cell proliferation. No effect on IFN-gamma production.", "evidence": [ { "database": "UniProtKB", "id": "P97378", "url": "https://www.uniprot.org/uniprotkb/P97378" }, { "database": "PubMed", "id": "12370372", "url": "https://glygen.org/publication/PubMed/12370372" } ] } ] }, { "uniprot_canonical_ac": "P97378-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Tyr778", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No loss of IL12-induced STAT4 activation nor T-cell proliferation. 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"", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 539, "start_aa": "Asn", "end_pos": 539, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn539", "evidence": [ { "id": "Q8R2R1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R2R1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Ala115", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32130724", "evidence": [ { "id": "rs3388544254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388544254" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Gly134", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32131718", "evidence": [ { "id": "rs3388544643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388544643" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Leu146", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32132913", "evidence": [ { "id": "rs3388544732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388544732" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Ile164", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32131808", "evidence": [ { "id": "rs28236424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28236424" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Leu168", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32132913", "evidence": [ { "id": "rs3388544732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388544732" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Val189", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32132976", "evidence": [ { "id": "rs216945353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216945353" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Pro203", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32133479", "evidence": [ { "id": "rs3388543646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388543646" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Val236", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32133666", "evidence": [ { "id": "rs3388546090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388546090" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Val258", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32134252", "evidence": [ { "id": "rs3391302457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391302457" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Val272", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32134294", "evidence": [ { "id": "rs28236416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28236416" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Phe281", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32134321", "evidence": [ { "id": "rs3388540389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388540389" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Gln317", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32135588", "evidence": [ { "id": "rs3391408294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391408294" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Pro318", 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"uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Glu527", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32141300", "evidence": [ { "id": "rs3391290420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391290420" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Ser537", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32141330", "evidence": [ { "id": "rs3388547997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388547997" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Gln55", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32127499", "evidence": [ { "id": "rs3391290438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391290438" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "563", "end_pos": "563", "site_lbl": "His563", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32141958", "evidence": [ { "id": "rs3388540339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388540339" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Ser57", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32127504", "evidence": [ { "id": "rs3388544241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388544241" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "607", "end_pos": "607", "site_lbl": "Thr607", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32142943", "evidence": [ { "id": "rs3388541441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388541441" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Trp616", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32142971", "evidence": [ { "id": "rs3388536791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388536791" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Ala61", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32127516", "evidence": [ { "id": "rs3391450005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391450005" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "687", "end_pos": "687", "site_lbl": "His687", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32143896", "evidence": [ { "id": "rs3388543612", "database": "dbSNP", "url": 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"Q8R2R1-1", "start_pos": "714", "end_pos": "714", "site_lbl": "Asn714", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32144355", "evidence": [ { "id": "rs3388543679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388543679" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Gly729", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "32144401", "evidence": [ { "id": "rs3388547265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388547265" } ] } ] }, { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Gly99", "weight": 0.0, "snv": [ { 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"uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Val112", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105584400", "evidence": [ { "id": "rs3388493610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493610" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Leu126", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105583724", "evidence": [ { "id": "rs3388491460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388491460" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "127", "end_pos": 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"Gln1000", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774214", "evidence": [ { "id": "rs3399655207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399655207" } ] }, { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774215", "evidence": [ { "id": "rs3399159243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399159243" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1006", "end_pos": "1006", "site_lbl": "Met1006", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774196", "evidence": [ { "id": "rs3389001576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389001576" } ] }, { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774198", "evidence": [ { "id": "rs3389013500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013500" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1007", "end_pos": "1007", "site_lbl": "Phe1007", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774194_117774195insCCATCA", "evidence": [ { "id": "rs3389008714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389008714" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1009", "end_pos": "1009", "site_lbl": "Ala1009", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774188", "evidence": [ { "id": "rs3389001571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389001571" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ser100", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808224_117808225insTTGCTTCCA", "evidence": [ { "id": "rs3399702818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399702818" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1010", "end_pos": "1010", "site_lbl": "Val1010", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774185", "evidence": [ { "id": "rs3389011795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389011795" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1011", "end_pos": "1011", "site_lbl": "Gly1011", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774183", "evidence": [ { "id": "rs3388984412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388984412" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1025", "end_pos": "1025", "site_lbl": "Pro1025", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774140", "evidence": [ { "id": "rs259746867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259746867" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1026", "end_pos": "1026", "site_lbl": "Met1026", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774136", "evidence": [ { "id": "rs228542238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228542238" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1030", "end_pos": "1030", "site_lbl": "Ser1030", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774125", "evidence": [ { "id": "rs3389020464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020464" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1032", "end_pos": "1032", "site_lbl": "Gln1032", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774119", "evidence": [ { "id": "rs3389008752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389008752" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1146", "end_pos": "1146", "site_lbl": "Ser1146", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117770014", "evidence": [ { "id": "rs3389017039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017039" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ala119", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808168", "evidence": [ { "id": "rs253288398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253288398" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1232", "end_pos": "1232", "site_lbl": "Ala1232", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117768954", "evidence": [ { "id": "rs241598224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241598224" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ser125", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808149", "evidence": [ { "id": "rs236023388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236023388" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117809153", "evidence": [ { "id": "rs3389020422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020422" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1347", "end_pos": "1347", "site_lbl": "Val1347", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117764855", "evidence": [ { "id": "rs3388984401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388984401" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Ser134", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808123", "evidence": [ { "id": "rs3389020409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020409" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1350", "end_pos": "1350", "site_lbl": "Thr1350", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117764845", "evidence": [ { "id": "rs3389007909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389007909" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1380", "end_pos": "1380", "site_lbl": "Val1380", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117762635", "evidence": [ { "id": "rs3389020393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020393" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1402", "end_pos": "1402", "site_lbl": "Arg1402", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117762568", "evidence": [ { "id": "rs3389020400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020400" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Val150", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808075", "evidence": [ { "id": "rs36666765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36666765" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Ala166", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117807541", "evidence": [ { "id": "rs36354942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36354942" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1707", "end_pos": "1707", "site_lbl": "Glu1707", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117755075_117755076insAACCA", "evidence": [ { "id": "rs3388989811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989811" } ] }, { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117755074", "evidence": [ { "id": "rs3388989808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989808" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1748", "end_pos": "1748", "site_lbl": "Arg1748", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117750765", "evidence": [ { "id": "rs1133418349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133418349" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1773", "end_pos": "1773", "site_lbl": "His1773", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117750688", "evidence": [ { "id": "rs3546963685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546963685" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1816", "end_pos": "1816", "site_lbl": "Trp1816", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117748720", "evidence": [ { "id": "rs3389013505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013505" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Phe182", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117807493", "evidence": [ { "id": "rs3389015672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015672" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "185", "end_pos": "185", "site_lbl": "His185", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117807483", "evidence": [ { "id": "rs253005172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253005172" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Thr192", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117807462", "evidence": [ { "id": "rs3389013458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013458" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Arg193", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117807459", "evidence": [ { "id": "rs213760371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213760371" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2260", "end_pos": "2260", "site_lbl": "Glu2260", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117726722", "evidence": [ { "id": "rs254405392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254405392" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2271", "end_pos": "2271", "site_lbl": "Asp2271", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117726689", "evidence": [ { "id": "rs3389012236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389012236" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ala227", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117802941", "evidence": [ { "id": "rs226173155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226173155" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2301", "end_pos": "2301", "site_lbl": "Met2301", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117726600", "evidence": [ { "id": "rs251976713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251976713" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2319", "end_pos": "2319", "site_lbl": "Val2319", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117726547", "evidence": [ { "id": "rs259606939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259606939" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2320", "end_pos": "2320", "site_lbl": "Ile2320", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117726544", "evidence": [ { "id": "rs240095232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240095232" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2336", "end_pos": "2336", "site_lbl": "Gly2336", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117724900", "evidence": [ { "id": "rs3388995377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995377" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2401", "end_pos": "2401", "site_lbl": "Ser2401", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117724297", "evidence": [ { "id": "rs232462324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232462324" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Arg240", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117802901", "evidence": [ { "id": "rs3389015460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015460" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Gly241", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117802898", "evidence": [ { "id": "rs261846047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261846047" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2447", "end_pos": "2447", "site_lbl": "Pro2447", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117722465", "evidence": [ { "id": "rs253481801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253481801" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2460", "end_pos": "2460", "site_lbl": "Arg2460", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117722425", "evidence": [ { "id": "rs36475739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36475739" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Leu256", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117799322", "evidence": [ { "id": "rs3388984416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388984416" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Gly261", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117799308", "evidence": [ { "id": "rs238969327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238969327" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Tyr293", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117799212", "evidence": [ { "id": "rs3389012249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389012249" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Cys339", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117794943", "evidence": [ { "id": "rs222684790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222684790" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Gly349", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117794912", "evidence": [ { "id": "rs238206667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238206667" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Thr351", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117794907", "evidence": [ { "id": "rs217787667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217787667" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Val372", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117794844", "evidence": [ { "id": "rs3546918224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546918224" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Gly381", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792650", "evidence": [ { "id": "rs3389017005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017005" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Ala382", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792646", "evidence": [ { "id": "rs238150565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238150565" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Phe40", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117809071", "evidence": [ { "id": "rs247092046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247092046" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Pro42", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117809064", "evidence": [ { "id": "rs228006879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228006879" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Ser458", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792419", "evidence": [ { "id": "rs221821319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221821319" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Val464", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792401", "evidence": [ { "id": "rs3389007871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389007871" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Gly467", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792391", "evidence": [ { "id": "rs3388964326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964326" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Glu487", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792332", "evidence": [ { "id": "rs214709262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214709262" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Val523", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117790852", "evidence": [ { "id": "rs3398739258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398739258" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Val525", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117790846", "evidence": [ { "id": "rs3389015740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015740" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Ser544", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117790022", "evidence": [ { "id": "rs241689231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241689231" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Leu550", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117790003", "evidence": [ { "id": "rs224978310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224978310" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Lys562", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117787358", "evidence": [ { "id": "rs229263291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229263291" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Gln563", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117787353", "evidence": [ { "id": "rs3388964270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964270" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Met565", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117787348", "evidence": [ { "id": "rs264214367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264214367" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Gly584", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117787292", "evidence": [ { "id": "rs3389017081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017081" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "595", "end_pos": "595", "site_lbl": "His595", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117787258", "evidence": [ { "id": "rs3388984414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388984414" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Asn606", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117786388", "evidence": [ { "id": "rs3388995302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995302" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Val609", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117786379", "evidence": [ { "id": "rs3389007910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389007910" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "632", "end_pos": "632", "site_lbl": "Asn632", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117786308", "evidence": [ { "id": "rs3388989827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989827" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Val635", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117786301", "evidence": [ { "id": "rs3389013501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013501" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Glu670", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784268", "evidence": [ { "id": "rs250225613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250225613" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Arg674", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784256", "evidence": [ { "id": "rs36920640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36920640" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Ala678", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784243", "evidence": [ { "id": "rs236412728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236412728" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Ser693", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784199", "evidence": [ { "id": "rs36282193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36282193" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784199", "evidence": [ { "id": "rs36282193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36282193" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Ser698", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784184", "evidence": [ { "id": "rs233660675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233660675" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "705", "end_pos": "705", "site_lbl": "Val705", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784162", "evidence": [ { "id": "rs38600027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38600027" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "717", "end_pos": "717", "site_lbl": "Arg717", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117783169", "evidence": [ { "id": "rs245173246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245173246" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Thr745", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117783085", "evidence": [ { "id": "rs3389013516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013516" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Met768", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117781742", "evidence": [ { "id": "rs37339564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37339564" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "801", "end_pos": "801", "site_lbl": "Ala801", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117781643", "evidence": [ { "id": "rs37207410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37207410" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "802", "end_pos": "802", "site_lbl": "Thr802", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117781640", "evidence": [ { "id": "rs3546937825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546937825" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "816", "end_pos": "816", "site_lbl": "Phe816", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117778524", "evidence": [ { "id": "rs36432398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36432398" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Cys817", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117778521", "evidence": [ { "id": "rs1134377302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134377302" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "838", "end_pos": "838", "site_lbl": "Asp838", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117778457", "evidence": [ { "id": "rs3389017091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017091" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Trp83", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808942", "evidence": [ { "id": "rs3388964292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964292" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Val845", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117778438", "evidence": [ { "id": "rs3389012198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389012198" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "855", "end_pos": "855", "site_lbl": "Ile855", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117778407", "evidence": [ { "id": "rs230331431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230331431" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Leu87", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808930", "evidence": [ { "id": "rs3389017085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017085" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "887", "end_pos": "887", "site_lbl": "Ala887", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117777891", "evidence": [ { "id": "rs3389019841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389019841" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Gln890", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117777880", "evidence": [ { "id": "rs36876722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36876722" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "891", "end_pos": "891", "site_lbl": "Glu891", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117777879", "evidence": [ { "id": "rs232164765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232164765" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Leu899", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117777855", "evidence": [ { "id": "rs246232493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246232493" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Ser91", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808917", "evidence": [ { "id": "rs37923437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37923437" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Gly921", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117777788", "evidence": [ { "id": "rs249923291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249923291" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Arg929", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776772", "evidence": [ { "id": "rs3399366887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399366887" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "931", "end_pos": "931", "site_lbl": "Leu931", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776767", "evidence": [ { "id": "rs3399654604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399654604" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776768", "evidence": [ { "id": "rs240222227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240222227" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "932", "end_pos": "932", "site_lbl": "Met932", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776764", "evidence": [ { "id": "rs3399159271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399159271" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "938", "end_pos": "938", "site_lbl": "Val938", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776746", "evidence": [ { "id": "rs36985151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36985151" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "950", "end_pos": "950", "site_lbl": "Gln950", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776710", "evidence": [ { "id": "rs230200917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230200917" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "961", "end_pos": "961", "site_lbl": "Gln961", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776676", "evidence": [ { "id": "rs36495159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36495159" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "962", "end_pos": "962", "site_lbl": "Arg962", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776674", "evidence": [ { "id": "rs226136461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226136461" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "969", "end_pos": "969", "site_lbl": "Ala969", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776653", "evidence": [ { "id": "rs257416565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257416565" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "974", "end_pos": "974", "site_lbl": "Ala974", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774294", "evidence": [ { "id": "rs223683882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223683882" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "976", "end_pos": "976", "site_lbl": "Cys976", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774288", "evidence": [ { "id": "rs228480522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228480522" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "982", "end_pos": "982", "site_lbl": "Thr982", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774270", "evidence": [ { "id": "rs250525294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250525294" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "988", "end_pos": "988", "site_lbl": "Ala988", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774251", "evidence": [ { "id": "rs3399570742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399570742" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "991", "end_pos": "991", "site_lbl": "Lys991", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774243", "evidence": [ { "id": "rs3399758860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399758860" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "995", "end_pos": "995", "site_lbl": "Glu995", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774229", "evidence": [ { "id": "rs3399638359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399638359" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "996", "end_pos": "996", 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sensory perception of bitter taste", "id": "GO:0001580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001580", "evidence": [ { "database": "UniProtKB", "id": "P02816", "url": "https://www.uniprot.org/uniprotkb/P02816" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P02816", "url": "https://www.uniprot.org/uniprotkb/P02816" } ], "pmid": "" }, { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "P02816", "url": "https://www.uniprot.org/uniprotkb/P02816" } ], "pmid": "" }, { "name": "IgG binding", "id": "GO:0019864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019864", "evidence": [ { "database": "UniProtKB", "id": "P02816", "url": "https://www.uniprot.org/uniprotkb/P02816" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P02816-1" }, { "uniprot_canonical_ac": "Q9CZB6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 233, "chemical_mass": 27205.0, "gene_names": "Med7;1110063B05Rik;Crsp33;Crsp9;Med7", "protein_name": "Mediator of RNA polymerase II transcription subunit 7", "disease": [], "biological_process": [ { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "positive regulation of transcription elongation by RNA polymerase II", "id": "GO:0032968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032968", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "RNA polymerase II preinitiation complex assembly", "id": "GO:0051123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051123", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "mediator complex", "id": "GO:0016592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "core mediator complex", "id": "GO:0070847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070847", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CZB6-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ser195", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CZB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZB6" } ] } ] } ], "record_id": "Q9CZB6-1" }, { "uniprot_canonical_ac": "Q8VCX5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 477, "chemical_mass": 54353.0, "gene_names": "Micu1;C730016L05Rik;Calc;Cbara1;Micu1", "protein_name": "Calcium uptake protein 1, mitochondrial", "disease": [ { "disease_id": "DOID:0111335", "name": "myopathy with extrapyramidal signs", "description": "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1.", "url": "https://disease-ontology.org/term/DOID:0111335", "evidence": [ { "id": "0111335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111335" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "uniplex complex", "id": "GO:1990246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990246", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial crista junction", "id": "GO:0044284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044284", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium channel regulator activity", "id": "GO:0005246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005246", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium channel inhibitor activity", "id": "GO:0019855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019855", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium ion sensor activity", "id": "GO:0061891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061891", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" } ], "biological_process": [ { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial calcium ion transmembrane transport", "id": "GO:0006851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006851", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium import into the mitochondrion", "id": "GO:0036444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036444", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial calcium ion homeostasis", "id": "GO:0051560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051560", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "positive regulation of cristae formation", "id": "GO:1903852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903852", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial calcium ion concentration", "id": "GO:0051561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051561", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "regulation of cellular hyperosmotic salinity response", "id": "GO:1900069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900069", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "cellular response to calcium ion starvation", "id": "GO:0072732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072732", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Ser124", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolished phosphorylation by AKT1; leading to increased stability.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "30504268", "url": "https://glygen.org/publication/PubMed/30504268" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Mimics phosphorylation; leading to decreased stability.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "30504268", "url": "https://glygen.org/publication/PubMed/30504268" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Cys203", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Asp233", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Acts as a dominant negative mutant that reduces the mitochondrial Ca(2+) peaks; when associated with A-244; A-423 and A-434. Does not affect ability to regulate cristae organization; when associated with A-244; A-423 and A-434.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "37098122", "url": "https://glygen.org/publication/PubMed/37098122" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Asp237", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolished calcium-binding, leading to a dominant-negative mutant that reduces mitochondrial calcium uptake; when associated with K-248, A-427 and K-438.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Glu244", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Acts as a dominant negative mutant that reduces the mitochondrial Ca(2+) peaks; when associated with A-233; A-423 and A-434. Does not affect ability to regulate cristae organization; when associated with A-233; A-423 and A-434.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Val248", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "K", "comment": "Abolished calcium-binding, leading to a dominant-negative mutant that reduces mitochondrial calcium uptake; when associated with A-237, A-248 and K-438.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Cys277", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Asp423", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Acts as a dominant negative mutant that reduces the mitochondrial Ca(2+) peaks; when associated with A-233; A-244 and A-434. Does not affect ability to regulate cristae organization; when associated with A-233; A-244 and A-434.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Asn427", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Abolished calcium-binding, leading to a dominant-negative mutant that reduces mitochondrial calcium uptake; when associated with A-237, K-248 and K-438.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Glu434", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Acts as a dominant negative mutant that reduces the mitochondrial Ca(2+) peaks; when associated with A-233; A-244 and A-423. Does not affect ability to regulate cristae organization; A-233; A-244 and A-423.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ile438", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Abolished calcium-binding, leading to a dominant-negative mutant that reduces mitochondrial calcium uptake; when associated with A-237, K-248 and A-427.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Cys465", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes interaction with MICU2.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Cys62", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] } ], "record_id": "Q8VCX5-1" }, { "uniprot_canonical_ac": "Q922V4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 513, "chemical_mass": 56938.0, "gene_names": "Plrg1;Plrg1;Tango4", "protein_name": "Pleiotropic regulator 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "post-mRNA release spliceosomal complex", "id": "GO:0071014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071014", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "U2-type catalytic step 1 spliceosome", "id": "GO:0071006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071006", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "DNA replication factor A complex", "id": "GO:0005662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005662", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "U2-type catalytic step 2 spliceosome", "id": "GO:0071007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071007", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "Prp19 complex", "id": "GO:0000974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000974", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "U12-type catalytic step 2 spliceosome", "id": "GO:0071018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071018", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q922V4-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ser119", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 119, "start_aa": "Ser", "end_pos": 119, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser119", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q922V4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q922V4" }, { "id": "Q922V4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q922V4" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ] } ] }, { "uniprot_canonical_ac": "Q922V4-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ser125", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 125, "start_aa": "Ser", "end_pos": 125, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser125", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q922V4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q922V4" }, { "id": "Q922V4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q922V4" } ] } ] }, { "uniprot_canonical_ac": "Q922V4-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Asn72", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G15664MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EKGPQNATDSYPHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 72, "start_aa": "Asn", "end_pos": 72, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn72", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q922V4-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ] } ] }, { "uniprot_canonical_ac": "Q922V4-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Ser390", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ] } ] } ], "record_id": "Q922V4-1" }, { "uniprot_canonical_ac": "Q6PEB6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 225, "chemical_mass": 26032.0, "gene_names": "Mob4;2610109B12Rik;Mob3;Mob4;Mobkl3;Phocn;Prei3", "protein_name": "MOB-like protein phocein", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "Golgi cisterna membrane", "id": "GO:0032580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032580", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "FAR/SIN/STRIPAK complex", "id": "GO:0090443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090443", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6PEB6-1" }, { "uniprot_canonical_ac": "Q9JK91-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 760, "chemical_mass": 84670.0, "gene_names": "Mlh1;1110035C23Rik;Mlh1", "protein_name": "DNA mismatch repair protein Mlh1", "disease": [ { "disease_id": "DOID:0050465", "name": "Muir-Torre syndrome", "description": "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.", "url": "https://disease-ontology.org/term/DOID:0050465", "evidence": [ { "id": "0050465", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050465" } ], "weight": 0.0 }, { "disease_id": "DOID:0070274", "name": "hereditary nonpolyposis colorectal cancer type 2", "description": "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2.", "url": "https://disease-ontology.org/term/DOID:0070274", "evidence": [ { "id": "0070274", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070274" } ], "weight": 0.0 }, { "disease_id": "DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0112182", "evidence": [ { "id": "0112182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112182" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.", "url": "https://disease-ontology.org/term/DOID:5426", "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ], "weight": 0.0 }, { "disease_id": "DOID:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 }, { "disease_id": "DOID:8029", "name": "sporadic breast cancer", "description": "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.", "url": "https://disease-ontology.org/term/DOID:8029", "evidence": [ { "id": "8029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8029" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "resolution of meiotic recombination intermediates", "id": "GO:0000712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000712", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "meiotic mismatch repair", "id": "GO:0000710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000710", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "homologous chromosome segregation", "id": "GO:0045143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045143", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "male meiosis chromosome segregation", "id": "GO:0007060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007060", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "female meiosis chromosome segregation", "id": "GO:0016321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016321", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "mismatch repair", "id": "GO:0006298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006298", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "male meiotic nuclear division", "id": "GO:0007140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007140", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "somatic hypermutation of immunoglobulin genes", "id": "GO:0016446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016446", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "isotype switching", "id": "GO:0045190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045190", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "negative regulation of mitotic recombination", "id": "GO:0045950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045950", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "positive regulation of isotype switching to IgG isotypes", "id": "GO:0048304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048304", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "homologous chromosome pairing at meiosis", "id": "GO:0007129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007129", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "meiotic chromosome segregation", "id": "GO:0045132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045132", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "reciprocal meiotic recombination", "id": "GO:0007131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007131", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "meiotic telomere clustering", "id": "GO:0045141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045141", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "somatic recombination of immunoglobulin gene segments", "id": "GO:0016447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016447", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0000289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000289", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "positive regulation of isotype switching to IgA isotypes", "id": "GO:0048298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048298", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "somatic recombination of immunoglobulin genes involved in immune response", "id": "GO:0002204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002204", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "meiotic metaphase I homologous chromosome alignment", "id": "GO:0043060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043060", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "meiotic spindle midzone assembly", "id": "GO:0051257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051257", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" } ], "cellular_component": [ { "name": "chiasma", "id": "GO:0005712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005712", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "condensed nuclear chromosome", "id": "GO:0000794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000794", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "condensed chromosome", "id": "GO:0000793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000793", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "late recombination nodule", "id": "GO:0005715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005715", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "MutLalpha complex", "id": "GO:0032389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032389", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "MutLgamma complex", "id": "GO:0097587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097587", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "MutLbeta complex", "id": "GO:0032390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032390", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "mismatch repair complex", "id": "GO:0032300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032300", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "pmid": "" }, { "name": "enzyme binding", "id": 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build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. 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"ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4959", "name": "epidermolysis bullosa dystrophica", "description": "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.", "url": "https://disease-ontology.org/term/DOID:4959", "evidence": [ { "id": "4959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4959" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, 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"https://www.alliancegenome.org/disease/DOID:799" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8472", "name": "localized scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:8472", "evidence": [ { "id": "8472", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8472" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 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"site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 375, "start_aa": "Ser", "end_pos": 375, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser375", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q9ERV1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9ERV1" } ] } ] }, { "uniprot_canonical_ac": "Q9ERV1-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ser139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ERV1", "url": "https://www.uniprot.org/uniprotkb/Q9ERV1" } ] } ] } ], "record_id": "Q9ERV1-1" }, { "uniprot_canonical_ac": "Q9JJ26-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 767, "chemical_mass": 86409.0, "gene_names": "Mefv;FMF;Mefv;TRIM20;pyrin", "protein_name": "Pyrin", "disease": [ { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0080746", "name": "Sweet syndrome", "description": "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions.", "url": "https://disease-ontology.org/term/DOID:0080746", "evidence": [ { "id": "0080746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080746" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "pattern recognition receptor signaling pathway", "id": "GO:0002221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002221", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "regulation of interleukin-1 beta production", "id": "GO:0032651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032651", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "negative regulation of interleukin-12 production", "id": "GO:0032695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032695", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "negative regulation of macrophage inflammatory protein 1 alpha production", "id": "GO:0071641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071641", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "pyroptosome complex assembly", "id": "GO:1904270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904270", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "negative regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900226", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": 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"UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "canonical inflammasome complex", "id": "GO:0061702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061702", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JJ26-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Ser205", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9JJ26", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJ26" }, { "database": "PubMed", "id": "27482109", "url": "https://glygen.org/publication/PubMed/27482109" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ26-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" }, { "database": "iPTMnet", "id": "Q9JJ26", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJ26" }, { "database": "PubMed", "id": "27482109", "url": "https://glygen.org/publication/PubMed/27482109" } ] } ] } ], "record_id": "Q9JJ26-1" }, { "uniprot_canonical_ac": "Q9R0S3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R0S3", "url": "https://www.uniprot.org/uniprotkb/Q9R0S3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 578, "chemical_mass": 64333.0, "gene_names": "Mmp17;MT4-MMP;MT4MMP;MTMMP4;Mmp17;Mt4mmp", "protein_name": "Matrix metalloproteinase-17", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q9R0S3", "url": "https://www.uniprot.org/uniprotkb/Q9R0S3" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9R0S3", "url": "https://www.uniprot.org/uniprotkb/Q9R0S3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9R0S3", "url": "https://www.uniprot.org/uniprotkb/Q9R0S3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9R0S3", "url": "https://www.uniprot.org/uniprotkb/Q9R0S3" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9R0S3", "url": "https://www.uniprot.org/uniprotkb/Q9R0S3" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "Q9R0S3", "url": "https://www.uniprot.org/uniprotkb/Q9R0S3" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9R0S3", "url": 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], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9DAC9", "url": "https://www.uniprot.org/uniprotkb/Q9DAC9" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9DAC9", "url": "https://www.uniprot.org/uniprotkb/Q9DAC9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DAC9-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Thr225", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, 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"https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asn295", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "Q8BXQ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BXQ2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Asn331", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 331, "start_aa": "Asn", "end_pos": 331, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn331", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2361", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2361" } ] }, { "glytoucan_ac": "G55420XE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KTYAVYDLFDTAMINNSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 331, "start_aa": "Asn", "end_pos": 331, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn331", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 331, "start_aa": "Asn", "end_pos": 331, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn331", "evidence": [ { "id": "Q8BXQ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BXQ2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Asp504", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DGS->NGS); glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349208", "evidence": [ { "id": "rs3388614031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614031" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Gln109", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339913", "evidence": [ { "id": "rs3388614032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614032" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Gln121", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339949", "evidence": [ { "id": "rs3388611542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611542" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Val137", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164341747", "evidence": [ { "id": "rs3388611882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611882" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Lys162", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164341823", "evidence": [ { "id": "rs3388600758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388600758" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Leu17", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339528", "evidence": [ { "id": "rs3388595234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388595234" } ] }, { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339528", "evidence": [ { "id": "rs3388595234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388595234" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ile254", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164343067", "evidence": [ { "id": "rs3411268570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411268570" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Cys26", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339555", "evidence": [ { "id": "rs3392539370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392539370" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Glu28", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339560", "evidence": [ { "id": "rs3388611965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611965" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Pro30", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339566", "evidence": [ { "id": "rs3388613087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388613087" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Asn332", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164343521", "evidence": [ { "id": "rs3388595211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388595211" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Arg344", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164343556", "evidence": [ { "id": "rs27331905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27331905" } ] }, { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164343557", "evidence": [ { "id": "rs226433875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226433875" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Tyr361", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344434", "evidence": [ { "id": "rs3388611564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611564" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Leu372", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344467", "evidence": [ { "id": "rs3388600776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388600776" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Leu397", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344541", "evidence": [ { "id": "rs3388613067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388613067" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Ser416", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344599", "evidence": [ { "id": "rs3388595251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388595251" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Pro422", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344616", "evidence": [ { "id": "rs218262059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218262059" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344616", "evidence": [ { "id": "rs218262059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218262059" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Leu431", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164348347", "evidence": [ { "id": "rs3388608086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388608086" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Leu435", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164348359", "evidence": [ { "id": "rs3388614074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614074" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Leu438", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164348369", "evidence": [ { "id": "rs3388614960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614960" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Gly46", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339614", "evidence": [ { "id": "rs3388614907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614907" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Val502", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349202", "evidence": [ { "id": "rs3388614029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614029" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Gly505", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349211", "evidence": [ { "id": "rs27331881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27331881" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Thr523", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349266", "evidence": [ { "id": "rs3388602244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388602244" } ] }, { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349265", "evidence": [ { "id": "rs3388607268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388607268" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "528", "end_pos": "528", "site_lbl": "Met528", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349282", "evidence": [ { "id": "rs3388611494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611494" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Phe52", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339632", "evidence": [ { "id": "rs3388611370", "database": "dbSNP", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P0C1P0", "url": "https://www.uniprot.org/uniprotkb/P0C1P0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P0C1P0-1" }, { "uniprot_canonical_ac": "P15972-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P15972", "url": "https://www.uniprot.org/uniprotkb/P15972" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 65, "chemical_mass": 7277.0, "gene_names": "Phxr2", "protein_name": "Putative per-hexamer repeat protein 2", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P15972-1" }, { "uniprot_canonical_ac": "P20918-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 812, "chemical_mass": 90808.0, "gene_names": "Plg;Pg;Plg", "protein_name": "Plasminogen", "disease": [ { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0111592", "name": "plasminogen deficiency type I", "description": "A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on 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coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "weight": 0.0 }, { "disease_id": "DOID:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "weight": 0.0 }, { "disease_id": "DOID:6195", "name": "conjunctivitis", "description": "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.", "url": "https://disease-ontology.org/term/DOID:6195", "evidence": [ { "id": 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"url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" } ], "biological_process": [ { "name": "biological process involved in interaction with symbiont", "id": "GO:0051702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051702", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "extracellular matrix disassembly", "id": "GO:0022617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "negative regulation of fibrinolysis", "id": "GO:0051918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051918", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "collagen catabolic process", "id": "GO:0030574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "labyrinthine layer blood vessel development", "id": "GO:0060716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060716", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "negative regulation of cell-substrate adhesion", "id": "GO:0010812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010812", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "myoblast differentiation", "id": "GO:0045445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045445", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "trophoblast giant cell differentiation", "id": "GO:0060707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060707", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "positive regulation of fibrinolysis", "id": "GO:0051919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051919", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "mononuclear cell migration", "id": "GO:0071674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071674", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "trans-synaptic signaling by BDNF, modulating synaptic transmission", "id": "GO:0099183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099183", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P20918", "url": "https://www.uniprot.org/uniprotkb/P20918" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": 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"" }, { "name": "regulation of cell diameter", "id": "GO:0060305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060305", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK5", "url": "https://www.uniprot.org/uniprotkb/Q9JHK5" } ], "pmid": "" }, { "name": "thrombin-activated receptor signaling pathway", "id": "GO:0070493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070493", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK5", "url": "https://www.uniprot.org/uniprotkb/Q9JHK5" } ], "pmid": "" }, { "name": "protein secretion by platelet", "id": "GO:0070560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070560", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK5", "url": "https://www.uniprot.org/uniprotkb/Q9JHK5" } ], "pmid": "" }, { "name": "vesicle docking involved in exocytosis", "id": "GO:0006904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006904", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK5", "url": "https://www.uniprot.org/uniprotkb/Q9JHK5" } ], 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{ "uniprot_canonical_ac": "Q6PD26-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ala6", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "11", "chr_pos": "78219316", "evidence": [ { "id": "rs245644222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245644222" } ] } ] } ], "record_id": "Q6PD26-1" }, { "uniprot_canonical_ac": "Q6U7H8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6U7H8", "url": "https://www.uniprot.org/uniprotkb/Q6U7H8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 395, "chemical_mass": 45293.0, "gene_names": "Pip5kl1;Pip5kl1;Pipkh", "protein_name": "Phosphatidylinositol 4-phosphate 5-kinase-like protein 1", "disease": [], "molecular_function": [ { "name": "ATP 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}, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q6U7H8", "url": "https://www.uniprot.org/uniprotkb/Q6U7H8" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "Q6U7H8", "url": "https://www.uniprot.org/uniprotkb/Q6U7H8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6U7H8-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Thr3", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", 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"uniprot_canonical_ac": "F8VQ63-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Thr111", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 111, "start_aa": "Thr", "end_pos": 111, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr111", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "F8VQ63-1" }, { "uniprot_canonical_ac": "F8VQM2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 93, "chemical_mass": 10494.0, "gene_names": "Ccl26;Ccl26l;Ccl26", "protein_name": "", "disease": [ { "disease_id": "DOID:0060061", "name": "primary cutaneous T-cell non-Hodgkin lymphoma", "description": "A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.", "url": "https://disease-ontology.org/term/DOID:0060061", "evidence": [ { "id": "0060061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060061" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3049", "name": "Churg-Strauss syndrome", "description": "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.", "url": "https://disease-ontology.org/term/DOID:3049", "evidence": [ { "id": "3049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3049" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:4031", "name": "eosinophilic gastroenteritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4031", "evidence": [ { "id": "4031", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4031" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. 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"weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 179, "start_aa": "Thr", "end_pos": 179, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr179", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "J3QPX0-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Ala106", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "12", "chr_pos": "18581728", "evidence": [ { "id": "rs223517116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223517116" } ] } ] } ], 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"https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "cellular response to mercury ion", "id": "GO:0071288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071288", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "grooming behavior", "id": "GO:0007625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007625", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "intracellular zinc ion homeostasis", "id": "GO:0006882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006882", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "cellular response to bisphenol A", "id": "GO:1903926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903926", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "motor neuron apoptotic process", "id": "GO:0097049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097049", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "L-glutamate import", "id": "GO:0051938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051938", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "D-aspartate import across plasma membrane", "id": "GO:0070779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070779", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "L-glutamate import across plasma membrane", "id": "GO:0098712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098712", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "L-aspartate import across plasma membrane", "id": "GO:0140009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140009", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "superoxide metabolic process", "id": "GO:0006801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006801", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "cellular response to cocaine", "id": "GO:0071314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071314", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "conditioned place preference", "id": "GO:1990708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990708", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "cysteine transmembrane transport", "id": "GO:1903712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903712", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transport", "id": "GO:0015813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015813", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "glutamate receptor signaling pathway", "id": "GO:0007215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007215", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "maintenance of blood-brain barrier", "id": "GO:0035633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035633", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "intracellular glutamate homeostasis", "id": "GO:0090461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090461", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "cysteine transport", "id": "GO:0042883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042883", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "motor behavior", "id": "GO:0061744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061744", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "postsynaptic modulation of chemical synaptic transmission", "id": "GO:0099170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099170", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "response to anesthetic", "id": "GO:0072347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072347", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "response to decreased oxygen levels", "id": "GO:0036293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036293", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "regulation of protein targeting to membrane", "id": "GO:0090313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090313", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "neurotransmitter receptor transport to plasma membrane", "id": "GO:0098877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098877", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "D-aspartate transmembrane transport", "id": "GO:0070777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070777", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "L-aspartate transmembrane transport", "id": "GO:0070778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070778", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "dendrite", "id": 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"https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P51906", "url": "https://www.uniprot.org/uniprotkb/P51906" } ], "pmid": "" }, { "name": "cell periphery", "id": 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"https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "MHC class II protein binding, via antigen binding groove", "id": "GO:0042658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042658", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cytokine-mediated signaling pathway", "id": "GO:0001961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001961", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ 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regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of monocyte differentiation", "id": "GO:0045657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045657", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of viral entry into host cell", "id": "GO:0046598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046598", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "negative thymic T cell selection", "id": "GO:0045060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045060", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of prostaglandin biosynthetic process", "id": "GO:0031394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031394", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of adaptive immune response", "id": "GO:0002821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002821", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "negative regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043518", "url": 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"https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive thymic T cell selection", "id": "GO:0045059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045059", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of innate immune response", "id": "GO:0045089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045089", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation", "id": "GO:0045582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045582", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "prostaglandin biosynthetic process", "id": "GO:0001516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001516", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "antigen processing and presentation", "id": "GO:0019882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019882", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell antigen processing and presentation", "id": "GO:0002606", "url": 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assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "negative regulation of peptide secretion", "id": "GO:0002792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002792", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of type 2 immune response", "id": "GO:0002830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002830", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "macrophage migration inhibitory factor signaling pathway", "id": "GO:0035691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035691", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000343", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "positive regulation of macrophage migration inhibitory factor signaling pathway", "id": "GO:2000448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000448", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P04441", "url": "https://www.uniprot.org/uniprotkb/P04441" } ], "pmid": "" }, { 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Abolishes phosphorylation by FES; when associated with F-405.", "evidence": [ { "database": "UniProtKB", "id": "P49710", "url": "https://www.uniprot.org/uniprotkb/P49710" }, { "database": "PubMed", "id": "19001085", "url": "https://glygen.org/publication/PubMed/19001085" } ] } ] }, { "uniprot_canonical_ac": "P49710-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Tyr405", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P49710", "url": "https://www.uniprot.org/uniprotkb/P49710" }, { "database": "iPTMnet", "id": "P49710", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P49710" }, { "database": "PubMed", "id": "19001085", "url": "https://glygen.org/publication/PubMed/19001085" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Minor effect on phosphorylation by FES. 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regulation of Rho protein signal transduction", "id": "GO:0035024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035024", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" }, { "name": "endothelial cell morphogenesis", "id": "GO:0001886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001886", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" }, { "name": "regulation of body fluid levels", "id": "GO:0050878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050878", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" }, { "name": "lymph vessel development", "id": "GO:0001945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001945", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" }, { "name": 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regulation of fibroblast growth factor production", "id": "GO:0090271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090271", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" }, { "name": "endothelial cell development", "id": "GO:0001885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001885", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" }, { "name": "venous blood vessel morphogenesis", "id": "GO:0048845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048845", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" }, { 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"" } ], "cellular_component": [ { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q7X6", "url": "https://www.uniprot.org/uniprotkb/E9Q7X6" } ], "pmid": "" } ], "molecular_function": [ { 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"evidence": [ { "database": "UniProtKB", "id": "O88844", "url": "https://www.uniprot.org/uniprotkb/O88844" }, { "database": "PubMed", "id": "29923039", "url": "https://glygen.org/publication/PubMed/29923039" } ] } ] } ], "record_id": "O88844-1" }, { "uniprot_canonical_ac": "Q9Z2V5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1149, "chemical_mass": 125787.0, "gene_names": "Hdac6;Hd6;Hdac5;Hdac6;Sfc6;mHDA2", "protein_name": "Protein deacetylase HDAC6", "disease": [ { "disease_id": "DOID:0060980", "name": "polycystic liver disease 1", "description": "A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13.", "url": 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"name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex assembly", "id": "GO:0031333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031333", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "positive regulation of protein oligomerization", "id": "GO:0032461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032461", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "positive regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033148", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of gene expression, epigenetic", "id": "GO:0045814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045814", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "dendritic spine morphogenesis", "id": "GO:0060997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060997", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "aggrephagy", "id": "GO:0035973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035973", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein deacetylation", "id": "GO:0006476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006476", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein targeting to vacuole involved in autophagy", "id": "GO:0071211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071211", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein quality control for misfolded or incompletely synthesized proteins", "id": "GO:0006515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006515", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "cellular response to misfolded protein", "id": "GO:0071218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071218", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "regulation of fat cell differentiation", "id": "GO:0045598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045598", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "positive regulation of cholangiocyte proliferation", "id": "GO:1904056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904056", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of axon extension involved in axon guidance", "id": "GO:0048843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048843", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "response to misfolded protein", "id": "GO:0051788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051788", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "regulation of establishment of protein localization", "id": "GO:0070201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070201", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of hydrogen peroxide metabolic process", "id": "GO:0010727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010727", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "cellular response to topologically incorrect protein", "id": "GO:0035967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035967", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway", "id": "GO:0043162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043162", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex disassembly", "id": "GO:0043242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043242", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "regulation of microtubule-based movement", "id": "GO:0060632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060632", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "type 2 mitophagy", "id": "GO:0061734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061734", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "aggresome assembly", "id": "GO:0070842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070842", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "polyubiquitinated misfolded protein transport", "id": "GO:0070845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070845", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "Hsp90 deacetylation", "id": "GO:0070846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070846", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "tubulin deacetylation", "id": "GO:0090042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090042", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of protein acetylation", "id": "GO:1901984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901984", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "positive regulation of type 2 mitophagy", "id": "GO:1905091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905091", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein deacylation", "id": "GO:0035601", "url": 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"GO:1900409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900409", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "erythrocyte enucleation", "id": "GO:0043131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043131", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of aggrephagy", "id": "GO:1905336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905336", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043622", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "reproductive structure development", "id": "GO:0048608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048608", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "establishment of centrosome localization", "id": "GO:0051660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051660", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "hard palate development", "id": "GO:0060022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060022", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "regulation of potassium ion import", "id": "GO:1903286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903286", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "regulation of potassium ion export across plasma membrane", "id": "GO:1903764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903764", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0099645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099645", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "regulation of potassium ion transport", "id": "GO:0043266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043266", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "myelin sheath abaxonal region", "id": "GO:0035748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035748", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { 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It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.", "url": "https://disease-ontology.org/term/DOID:0060358", "evidence": [ { "id": "0060358", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060358" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial electron transfer flavoprotein complex", "id": "GO:0017133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017133", "evidence": [ { "database": "UniProtKB", "id": "Q9DCW4", "url": "https://www.uniprot.org/uniprotkb/Q9DCW4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9DCW4", "url": "https://www.uniprot.org/uniprotkb/Q9DCW4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9DCW4", "url": "https://www.uniprot.org/uniprotkb/Q9DCW4" } ], "pmid": "" }, { "name": "electron transfer flavoprotein complex", "id": "GO:0045251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045251", "evidence": [ { "database": "UniProtKB", "id": "Q9DCW4", "url": "https://www.uniprot.org/uniprotkb/Q9DCW4" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "Q9DCW4", "url": "https://www.uniprot.org/uniprotkb/Q9DCW4" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q9DCW4", "url": "https://www.uniprot.org/uniprotkb/Q9DCW4" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "Q9DCW4", "url": 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Some interaction with INPP5DSH2 domain. Some decrease in BCR-triggered tyrosine phosphorylation. Abolishes reduction of BCR-induced IL2 secretion, the interaction with INPP5DSH2 domain and BCR-triggered tyrosine phosphorylation; when associated with F-325.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZK7", "url": "https://www.uniprot.org/uniprotkb/Q9QZK7" }, { "database": "PubMed", "id": "14993273", "url": "https://glygen.org/publication/PubMed/14993273" } ] } ] }, { "uniprot_canonical_ac": "Q9QZK7-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Ser371", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZK7", "url": "https://www.uniprot.org/uniprotkb/Q9QZK7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZK7" } ] } ] }, { "uniprot_canonical_ac": "Q9QZK7-1", "start_pos": "209", "end_pos": "209", "site_lbl": 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"sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on the reduction of BCR-induced IL2 secretion, nor on the interaction with the SH2 domain of INPP5D or CSK nor on BCR-triggered tyrosine phosphorylation; when associated with F-399.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZK7", "url": "https://www.uniprot.org/uniprotkb/Q9QZK7" }, { "database": "PubMed", "id": "14993273", "url": "https://glygen.org/publication/PubMed/14993273" } ] } ] }, { "uniprot_canonical_ac": "Q9QZK7-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Tyr399", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on the reduction of BCR-induced IL2 secretion, nor on the interaction with the SH2 domain of INPP5D or CSK nor on BCR-triggered tyrosine phosphorylation; when associated with F-378.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZK7", "url": "https://www.uniprot.org/uniprotkb/Q9QZK7" }, { "database": "PubMed", "id": "14993273", "url": "https://glygen.org/publication/PubMed/14993273" } ] } ] } ], "record_id": "Q9QZK7-1" }, { "uniprot_canonical_ac": "Q922Y0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922Y0", "url": "https://www.uniprot.org/uniprotkb/Q922Y0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 586, "chemical_mass": 65572.0, "gene_names": "Dyrk3;Dyrk3", "protein_name": "Dual specificity tyrosine-phosphorylation-regulated kinase 3", "disease": [ { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": 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regulation of non-motile cilium assembly", "id": "GO:1902856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902856", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "regulation of Golgi organization", "id": "GO:1903358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903358", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "positive regulation of P-type sodium:potassium-exchanging transporter activity", "id": "GO:1903408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903408", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "negative regulation of membrane tubulation", "id": "GO:1903526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903526", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": 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"database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" }, { "name": "kinesin complex", "id": "GO:0005871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005871", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" } ], "biological_process": [ { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A1B0GSG7-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Ser723", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 723, "start_aa": "Ser", "end_pos": 723, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser723", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "A0A1B0GSG7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0A1B0GSG7" }, { "id": "A0A1B0GSG7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A0A1B0GSG7" } ] } ] }, { "uniprot_canonical_ac": "A0A1B0GSG7-1", "start_pos": "726", "end_pos": "726", "site_lbl": "Ser726", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 726, "start_aa": "Ser", "end_pos": 726, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser726", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": 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{ "uniprot_canonical_ac": "J3QK46-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Asn103", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G93910IH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IGAISNSSNGNKNPAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "J3QK46-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Asn123", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G68490OW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], 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"start_aa": "Thr", "end_pos": 521, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr521", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "J3QK46-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Thr599", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 599, "start_aa": "Thr", "end_pos": 599, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr599", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "J3QK46-1" }, { "uniprot_canonical_ac": "M0QW81-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "M0QW81", "url": "https://www.uniprot.org/uniprotkb/M0QW81" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 227, "chemical_mass": 27188.0, "gene_names": "Gm3488;100041735;100041747;Gm3488;Gm3494", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M0QW81-1" }, { "uniprot_canonical_ac": "P28776-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 407, "chemical_mass": 45641.0, "gene_names": "Ido1;Ido1;Ido;Indo", "protein_name": "Indoleamine 2,3-dioxygenase 1", "disease": [ { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:11263", "name": "chlamydia", "description": "A commensal bacterial infectious disease that is caused by Chlamydia trachomatis.", "url": "https://disease-ontology.org/term/DOID:11263", "evidence": [ { "id": "11263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11263" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. 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The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:9123", "name": "eczema herpeticum", "description": "A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2). 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"P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "L-tryptophan catabolic process to kynurenine", "id": "GO:0019441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019441", "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": 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"sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30826621", "evidence": [ { "id": "rs3389410880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389410880" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Phe264", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776545", "evidence": [ { "id": "rs3389404959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389404959" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Glu270", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776525", "evidence": [ { "id": "rs3389408432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389408432" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Leu284", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776484", "evidence": [ { "id": "rs3389403728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389403728" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Glu310", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776407", "evidence": [ { "id": "rs3406855614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406855614" } ] }, { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776405", "evidence": [ { "id": "rs262676579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262676579" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Pro311", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776403", "evidence": [ { "id": "rs3389427497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389427497" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Ser312", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776401", "evidence": [ { "id": "rs237620681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237620681" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Leu317", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776385", "evidence": [ { "id": "rs3389408376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389408376" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Arg324", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776364", "evidence": [ { "id": "rs3389410889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389410889" } ] } ], "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Reduces enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "326", "end_pos": "326", "site_lbl": "His326", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776358", "evidence": [ { "id": "rs3389413676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389413676" } ] } ], "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Abolishes enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Glu339", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776320", "evidence": [ { "id": "rs3389427429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389427429" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Phe344", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776305", "evidence": [ { "id": "rs3406855589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406855589" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Asn352", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776281", "evidence": [ { "id": "rs3389403714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389403714" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "362", "end_pos": "362", "site_lbl": "His362", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of 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"id": "rs3389408773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389408773" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Lys56", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30899987", "evidence": [ { "id": "rs3406643150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406643150" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ala80", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30899915", "evidence": [ { "id": "rs264441655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264441655" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Ser81", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30899912", "evidence": [ { "id": "rs247925400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247925400" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Val93", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30899877", "evidence": [ { "id": "rs3406720483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406720483" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Ala9", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30900128", "evidence": [ { "id": "rs235242723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235242723" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30900129", "evidence": [ { "id": "rs249613996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249613996" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Asp225", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "No effect on enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Glu255", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Gln257", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Reduces enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "262", "end_pos": "262", "site_lbl": "His262", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduces enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Trp265", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Slightly reduces enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Gln266", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "No effect on enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Ser289", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Slightly reduces enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Asp319", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "No significant effect on enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Gly325", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Strongly reduces enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Asp329", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Increases enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": 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"name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "high-density lipoprotein particle remodeling", "id": "GO:0034375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034375", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "positive regulation of macrophage derived foam cell differentiation", "id": "GO:0010744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010744", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "P11152", 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"UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "low-density lipoprotein particle mediated signaling", "id": "GO:0055096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055096", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "cellular response to fatty acid", "id": "GO:0071398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071398", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000343", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "negative regulation of cellular response to insulin stimulus", "id": "GO:1900077", "url": 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The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). 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If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.", "url": "https://disease-ontology.org/term/DOID:4166", "evidence": [ { "id": "4166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4166" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:639", "name": "acute disseminated encephalomyelitis", "description": "An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection.", "url": "https://disease-ontology.org/term/DOID:639", "evidence": [ { "id": "639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:639" } ], "weight": 0.0 }, { "disease_id": "DOID:643", "name": "progressive multifocal leukoencephalopathy", "description": "A viral infectious disease that involves reactivation of JC polyomavirus (Betapolyomavirus secuhominis) in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.", "url": "https://disease-ontology.org/term/DOID:643", "evidence": [ { "id": "643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:643" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:9255", "name": "frontotemporal dementia", "description": "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.", "url": "https://disease-ontology.org/term/DOID:9255", "evidence": [ { "id": "9255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9255" } ], "weight": 0.0 } ], "biological_process": [ { "name": "retrograde axonal transport", "id": "GO:0008090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008090", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "intermediate filament bundle assembly", "id": "GO:0045110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045110", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "anterograde axonal transport", "id": "GO:0008089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "peripheral nervous system axon regeneration", "id": "GO:0014012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014012", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "neurofilament cytoskeleton organization", "id": "GO:0060052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060052", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": "https://www.uniprot.org/uniprotkb/P08551" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "P08551", "url": 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of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4992", "name": "optic nerve glioma", "description": "", "url": "https://disease-ontology.org/term/DOID:4992", "evidence": [ { "id": "4992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4992" } ], "weight": 0.0 }, { "disease_id": "DOID:5151", "name": "plexiform neurofibroma", "description": "", "url": "https://disease-ontology.org/term/DOID:5151", "evidence": [ { "id": "5151", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5151" } ], "weight": 0.0 }, { "disease_id": "DOID:535", "name": "sleep disorder", "description": "A disease of mental health that involves disruption of sleep patterns.", "url": "https://disease-ontology.org/term/DOID:535", "evidence": [ { "id": "535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:535" } ], "weight": 0.0 }, { "disease_id": "DOID:8712", "name": "neurofibromatosis", "description": "", "url": "https://disease-ontology.org/term/DOID:8712", "evidence": [ { "id": "8712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8712" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of bone resorption", "id": "GO:0045124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045124", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of Ras protein signal transduction", "id": "GO:0046580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046580", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "hair follicle maturation", "id": "GO:0048820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048820", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of blood vessel endothelial cell migration", "id": "GO:0043535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043535", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of long-term neuronal synaptic plasticity", "id": "GO:0048169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048169", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of cell-matrix adhesion", "id": "GO:0001953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001953", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001241", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of protein import into nucleus", "id": "GO:0042308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042308", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of intracellular signal transduction", "id": "GO:1902531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902531", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of angiogenesis", "id": "GO:0045765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045765", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of MAP kinase activity", "id": "GO:0043407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043407", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of neurotransmitter secretion", "id": "GO:0046929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046929", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of long-term synaptic potentiation", "id": "GO:1900271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900271", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of Rac protein signal transduction", "id": "GO:0035021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035021", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": 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"UniProtKB", "id": "Q80Z64", "url": "https://www.uniprot.org/uniprotkb/Q80Z64" }, { "database": "PubMed", "id": "18177668", "url": "https://glygen.org/publication/PubMed/18177668" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Leu129", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122688731", "evidence": [ { "id": "rs3388821614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388821614" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Ser13", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122684779", "evidence": [ { "id": "rs3544856168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544856168" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Thr142", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122689594", "evidence": [ { "id": "rs3544766522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544766522" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Decreased protein expression and stability. Decreased embryonic stem cell self-renewal.", "evidence": [ { "database": "UniProtKB", "id": "Q80Z64", "url": "https://www.uniprot.org/uniprotkb/Q80Z64" }, { "database": "PubMed", "id": "25825768", "url": "https://glygen.org/publication/PubMed/25825768" } ] }, { "sequence_org": "T", "sequence_mut": "I", "comment": "Slightly reduced affinity for DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q80Z64", "url": "https://www.uniprot.org/uniprotkb/Q80Z64" }, { "database": "PubMed", "id": "18177668", "url": "https://glygen.org/publication/PubMed/18177668" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Asn164", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122689662", "evidence": [ { "id": "rs3388860721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388860721" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Ser182", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690141", "evidence": [ { "id": "rs3544766600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544766600" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122684794", "evidence": [ { "id": "rs3388847359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388847359" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Ser192", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690170", "evidence": [ { "id": "rs3388839227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388839227" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Asn19", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122684797", "evidence": [ { "id": "rs3544814743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544814743" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Thr212", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690230", "evidence": [ { "id": "rs3544770811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544770811" } ] }, { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690231", "evidence": [ { "id": "rs3544968627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544968627" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Asn215", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690241", "evidence": [ { "id": "rs3544812895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544812895" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Asn219", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690252", "evidence": [ { "id": "rs3544785486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544785486" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Asn220", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690256", "evidence": [ { "id": "rs3544828177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544828177" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690255", "evidence": [ { "id": "rs3544968067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544968067" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Thr222", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690260", "evidence": [ { "id": "rs3544812503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544812503" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Thr224", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690267", "evidence": [ { "id": "rs3544788916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544788916" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Asn225", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690271", "evidence": [ { "id": "rs1133253973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133253973" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Asn22", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of 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"rs3544784119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544784119" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Gln241", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690317", "evidence": [ { "id": "rs3388854269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854269" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Ala245", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690329", "evidence": [ { "id": "rs3544762593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544762593" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Pro247", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690336", "evidence": [ { "id": "rs3544828047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544828047" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Phe251", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690349", "evidence": [ { "id": "rs107799086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107799086" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Gln257", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690365", "evidence": [ { "id": "rs3544766459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544766459" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Val260", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690374", "evidence": [ { "id": "rs50242111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50242111" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Phe266", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690393", "evidence": [ { "id": "rs47937646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47937646" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Val273", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "6", "chr_pos": "122690413", "evidence": [ { "id": "rs3545044909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545044909" } ] } ] }, { "uniprot_canonical_ac": "Q80Z64-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Leu275", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation 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No effect on SRF activation, on interaction with EP300 and on SM-promoter activation; when associated with A-859; A-866 and A-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No effect on SRF activation. Impairs SRF activation, reduces interaction with EP300 and SM-promoter activation; when associated with D-859; D-866 and D-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ] }, { "uniprot_canonical_ac": "Q8VIM5-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Ser859", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "iPTMnet", "id": "Q8VIM5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on SRF activation; No effect on SRF activation. No effect on SRF activation, on interaction with EP300 and on SM-promoter activation; when associated with A-812, A-866 and A-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No effect on SRF activation. Impairs SRF activation, reduces interaction with EP300 and SM-promoter activation; when associated with D-812; D-866 and D-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ] }, { "uniprot_canonical_ac": "Q8VIM5-1", "start_pos": "866", "end_pos": "866", "site_lbl": "Ser866", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "iPTMnet", "id": "Q8VIM5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on SRF activation; No effect on SRF activation, on interaction with EP300 and on SM-promoter activation; when associated with A-812; A-859 and A-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No effect on SRF activation. Impairs SRF activation, reduces interaction with EP300 and SM-promoter activation; when associated with D-812; D-859 and D-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ] }, { "uniprot_canonical_ac": "Q8VIM5-1", "start_pos": "893", "end_pos": "893", "site_lbl": "Thr893", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "iPTMnet", "id": "Q8VIM5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on SRF activation; No effect on SRF activation, on interaction with EP300 and on SM-specific genes transcription; when associated with A-812; A-859 and A-866.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "No effect on SRF activation. Impairs SRF activation, reduces interaction with EP300 and SM-promoter activation; when associated with D-812; D-859 and D-866.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ] } ], "record_id": "Q8VIM5-1" }, { "uniprot_canonical_ac": "Q9WTI7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1063, "chemical_mass": 121944.0, "gene_names": "Myo1c;MMIb;MYO1E;Myo1c;NMI;mm1beta;myr2", "protein_name": "Unconventional myosin-Ic", "disease": [], "biological_process": [ { "name": "positive regulation of cellular response to insulin stimulus", "id": "GO:1900078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900078", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "vesicle transport along actin filament", "id": "GO:0030050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030050", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase I", "id": "GO:0045943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045943", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "vascular endothelial growth factor signaling pathway", "id": "GO:0038084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038084", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "regulation of bicellular tight junction assembly", "id": "GO:2000810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000810", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": 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"https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.", "url": "https://disease-ontology.org/term/DOID:1115", "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:13812", "name": "adhesions of uterus", "description": "A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure.", "url": "https://disease-ontology.org/term/DOID:13812", "evidence": [ { "id": "13812", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13812" } ], "weight": 0.0 }, { "disease_id": "DOID:1475", "name": "lymphangioma", "description": "A benign vascular tumor that is composed of dilated lymphatic channels.", "url": "https://disease-ontology.org/term/DOID:1475", "evidence": [ { "id": "1475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1475" } ], "weight": 0.0 }, { "disease_id": "DOID:1577", "name": "limited scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1577", "evidence": [ { "id": "1577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1577" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:264", "name": "hemangiopericytoma", "description": "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.", "url": "https://disease-ontology.org/term/DOID:264", "evidence": [ { "id": "264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:264" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3179", "name": "inverted papilloma", "description": "", "url": "https://disease-ontology.org/term/DOID:3179", "evidence": [ { "id": "3179", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3179" } ], "weight": 0.0 }, { "disease_id": "DOID:3192", "name": "neurilemmoma", "description": "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.", "url": "https://disease-ontology.org/term/DOID:3192", "evidence": [ { "id": "3192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3192" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3963", "name": "thyroid gland carcinoma", "description": "A thyroid gland cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3963", "evidence": [ { "id": "3963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3963" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4511", "name": "breast angiosarcoma", "description": "An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area.", "url": "https://disease-ontology.org/term/DOID:4511", "evidence": [ { "id": "4511", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4511" } ], "weight": 0.0 }, { "disease_id": "DOID:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.", "url": "https://disease-ontology.org/term/DOID:5425", "evidence": [ { "id": "5425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "weight": 0.0 }, { "disease_id": "DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7736", "name": "retinal telangiectasia", "description": "", "url": "https://disease-ontology.org/term/DOID:7736", "evidence": [ { "id": "7736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7736" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8717", "name": "decubitus ulcer", "description": "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.", "url": "https://disease-ontology.org/term/DOID:8717", "evidence": [ { "id": "8717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8717" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of hematopoietic progenitor cell differentiation", "id": "GO:1901532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901532", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "regulation of bone development", "id": "GO:1903010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903010", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell chemotaxis", "id": "GO:2001028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001028", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "surfactant homeostasis", "id": "GO:0043129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043129", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive 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"https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": 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"https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "cellular response to vascular endothelial growth factor stimulus", "id": "GO:0035924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035924", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor receptor signaling pathway", "id": "GO:0030949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030949", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "post-embryonic camera-type eye morphogenesis", "id": "GO:0048597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048597", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "endochondral bone growth", "id": "GO:0003416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003416", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "endothelium development", "id": "GO:0003158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003158", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "vascular wound healing", "id": "GO:0061042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061042", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor-2 signaling pathway", "id": "GO:0036324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036324", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of long-term neuronal synaptic 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of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "blood vessel endothelial cell differentiation", "id": "GO:0060837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060837", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "endothelial cell differentiation", "id": "GO:0045446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045446", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "endocardium development", "id": "GO:0003157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003157", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { 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"chr_id": "5", "chr_pos": "76105004", "evidence": [ { "id": "rs3388759320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388759320" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1090", "end_pos": "1090", "site_lbl": "Gly1090", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104960", "evidence": [ { "id": "rs3388767514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767514" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1096", "end_pos": "1096", "site_lbl": "Ile1096", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104942", "evidence": [ { "id": "rs3395399631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395399631" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1104", "end_pos": "1104", "site_lbl": "Tyr1104", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104673", "evidence": [ { "id": "rs3388751981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388751981" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1106", "end_pos": "1106", "site_lbl": "Gly1106", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104666", "evidence": [ { "id": "rs3388767836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767836" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1110", "end_pos": "1110", "site_lbl": "Asp1110", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104655", "evidence": [ { "id": "rs3388767819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767819" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1129", "end_pos": "1129", "site_lbl": "Thr1129", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104598", "evidence": [ { "id": "rs3388765297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388765297" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1136", "end_pos": "1136", "site_lbl": "Thr1136", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104192", "evidence": [ { "id": "rs3388765262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388765262" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1155", "end_pos": "1155", "site_lbl": "Val1155", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104136_76104137insACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388770481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388770481" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1157", "end_pos": "1157", "site_lbl": "His1157", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104129", "evidence": [ { "id": "rs3388767541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767541" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1176", "end_pos": "1176", "site_lbl": "Leu1176", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76102600", "evidence": [ { "id": "rs231250602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231250602" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1230", "end_pos": "1230", "site_lbl": "Arg1230", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76097566", "evidence": [ { "id": "rs3388755890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388755890" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ala129", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129500", "evidence": [ { "id": "rs245385122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245385122" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1313", "end_pos": "1313", "site_lbl": "Asp1313", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76095182", "evidence": [ { "id": "rs3388762780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388762780" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1339", "end_pos": "1339", "site_lbl": "Thr1339", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76095106", "evidence": [ { "id": "rs3388751954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388751954" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Glu142", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129461", "evidence": [ { "id": "rs3388762470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388762470" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129462", "evidence": [ { "id": "rs3388767951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767951" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Val149", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129441", "evidence": [ { "id": "rs252289174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252289174" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Asp182", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129101", "evidence": [ { "id": "rs5527163676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527163676" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Phe187", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129085", "evidence": [ { "id": "rs3388758962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758962" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Val200", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129047", "evidence": [ { "id": "rs3388774070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388774070" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ala20", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76138770", "evidence": [ { "id": "rs249543830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249543830" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Glu253", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76128379", "evidence": [ { "id": "rs3388749416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749416" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Ser298", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76127096", "evidence": [ { "id": "rs3395399721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395399721" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Ser313", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76127051", "evidence": [ { "id": "rs3395770398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395770398" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Leu341", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125560", "evidence": [ { "id": "rs3388759358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388759358" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Val342", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125558", "evidence": [ { "id": "rs3388767496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767496" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ser348", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125539", "evidence": [ { "id": "rs3388749423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749423" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ile373", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125378", "evidence": [ { "id": "rs3388758923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758923" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ile380", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125357", "evidence": [ { "id": "rs3395087841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395087841" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Glu384", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125346", "evidence": [ { "id": "rs3388751988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388751988" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Lys38", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76135111", "evidence": [ { "id": "rs3388767965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767965" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Pro423", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123521", "evidence": [ { "id": "rs3388759300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388759300" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Ile425", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123515", "evidence": [ { "id": "rs3388767463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767463" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ser432", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123494", "evidence": [ { "id": "rs3395742615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395742615" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Pro433", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123490", "evidence": [ { "id": "rs3388762534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388762534" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Met434", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123488", "evidence": [ { "id": "rs5527124349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527124349" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Asn452", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123432", "evidence": [ { "id": "rs5527231308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527231308" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Gln459", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123413", "evidence": [ { "id": "rs3388772787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388772787" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Trp462", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123402", "evidence": [ { "id": "rs3388767998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767998" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Ala467", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123388", "evidence": [ { "id": "rs3388749421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749421" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Pro472", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123374", "evidence": [ { "id": "rs3388772838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388772838" } ] } ] }, { 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"site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 455, "start_aa": "Asn", "end_pos": 455, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn455", "evidence": [ { "id": "Q69ZQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q69ZQ1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Asn510", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 510, "start_aa": "Asn", "end_pos": 510, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn510", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2810", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2810" } ] }, { "glytoucan_ac": "G46503DX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VGYQSQNISCFFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 510, "start_aa": "Asn", "end_pos": 510, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn510", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ser125", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "41499254", "evidence": [ { "id": "rs3388682411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388682411" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Arg159", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "41499154", "evidence": [ { "id": "rs3388671701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388671701" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Gly168", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "41499127", "evidence": [ { "id": "rs3393884107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393884107" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Gly186", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "41499072", "evidence": [ { "id": "rs3388676847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388676847" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Ala188", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "41499067", "evidence": [ { "id": "rs3388679592", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ala21", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "41499567", "evidence": [ { "id": "rs237947285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237947285" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Thr273", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "41498811", "evidence": [ { "id": "rs3388677677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388677677" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Val28", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "41499546", "evidence": [ { "id": "rs3388673473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388673473" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "41499625", "evidence": [ { "id": "rs228825465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228825465" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Pro30", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: 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"id": "rs3388673534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388673534" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Gly404", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "VSDG*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "41498418_41498419insTACCTCAACCATCAC", "evidence": [ { "id": "rs3388678701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678701" } ] } ] }, { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Glu406", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "41498412", "evidence": [ { "id": "rs3388676855", "database": "dbSNP", "url": 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1162, "chemical_mass": 130789.0, "gene_names": "Lepr;B219;Db;LEP-R;LEPROT;Leprb;Lepr;Modb1;OB-RGRP;Obr;db;diabetes;obese-like;obl", "protein_name": "Leptin receptor", "disease": [ { "disease_id": "DOID:0050847", "name": "sleep apnea", "description": "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.", "url": "https://disease-ontology.org/term/DOID:0050847", "evidence": [ { "id": "0050847", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050847" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10603", "name": "glucose intolerance", "description": "", "url": "https://disease-ontology.org/term/DOID:10603", "evidence": [ { "id": "10603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ], "weight": 0.0 }, { "disease_id": "DOID:10605", "name": "short bowel syndrome", "description": "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.", "url": "https://disease-ontology.org/term/DOID:10605", "evidence": [ { "id": "10605", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10605" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5016", "name": "hepatocellular clear cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5016", "evidence": [ { "id": "5016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5016" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9775", "name": "diastolic heart failure", "description": "", "url": "https://disease-ontology.org/term/DOID:9775", "evidence": [ { "id": "9775", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9775" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sexual reproduction", "id": "GO:0019953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019953", "evidence": [ { "database": "UniProtKB", "id": "P48356", "url": "https://www.uniprot.org/uniprotkb/P48356" } ], "pmid": "" }, { "name": "negative regulation of eating behavior", "id": "GO:1903999", "url": 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"https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation.", "url": "https://disease-ontology.org/term/DOID:633", "evidence": [ { "id": "633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:633" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": 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progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 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"cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ], "pmid": "" }, { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ser120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PRO", "id": "Q8K3Y3", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q8K3Y3" }, { "database": "iPTMnet", "id": "Q8K3Y3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3Y3" }, { "database": "PubMed", "id": "28179426", "url": "https://glygen.org/publication/PubMed/28179426" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Ser3", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Gly119", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Erroneous subcellular location; when associated with S-124. No positive effect on terminal myogenic differentiation; when associated with S-124.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Pro124", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Erroneous subcellular location; when associated with R-119. No positive effect on terminal myogenic differentiation; when associated with R-119.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Cys142", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on subcellular location; when associated with 44-C--F-47. Normal terminal myogenic differentiation; when associated with 44-C--F-47.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Gly42", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Erroneous subcellular location. No positive effect on terminal myogenic differentiation.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Met81", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Erroneous subcellular location; when associated with Q-85. No positive effect on terminal myogenic differentiation; when associated with Q-85.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Arg85", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Erroneous subcellular location; when associated with I-81. No positive effect on terminal myogenic differentiation; when associated with I-81.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] } ], "record_id": "Q8K3Y3-1" }, { "uniprot_canonical_ac": "O55203-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 373, "chemical_mass": 42691.0, "gene_names": "Ldb2;CLIM1;CLP-36;Clim1;Ldb2;Ldb3", "protein_name": "LIM domain-binding protein 2", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "epithelial structure maintenance", "id": "GO:0010669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010669", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "regulation of kinase activity", "id": "GO:0043549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043549", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "positive regulation of cellular component biogenesis", "id": "GO:0044089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044089", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "LIM domain binding", "id": "GO:0030274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030274", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O55203-1" }, { "uniprot_canonical_ac": "Q9JKS4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprotkb/Q9JKS4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 723, "chemical_mass": 76432.0, "gene_names": "Ldb3;Kiaa0613;Ldb3;PDLIM6;ZASP", "protein_name": "LIM domain-binding protein 3", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0080092", "name": "myofibrillar myopathy 1", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:0080092", "evidence": [ { "id": "0080092", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080092" } ], "weight": 0.0 }, { "disease_id": "DOID:0080095", "name": "myofibrillar myopathy 4", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10.", "url": "https://disease-ontology.org/term/DOID:0080095", "evidence": [ { "id": "0080095", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080095" } ], "weight": 0.0 }, { "disease_id": "DOID:0081337", "name": "congenital myopathy", "description": "A myopathy that is characterized by hypotonia and weakness, usually present from birth.", "url": "https://disease-ontology.org/term/DOID:0081337", "evidence": [ { "id": "0081337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081337" } ], "weight": 0.0 }, { "disease_id": "DOID:0110423", "name": "dilated cardiomyopathy 1C", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2.", "url": "https://disease-ontology.org/term/DOID:0110423", "evidence": [ { "id": "0110423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110423" } ], "weight": 0.0 }, { "disease_id": "DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.", "url": "https://disease-ontology.org/term/DOID:11720", "evidence": [ { "id": "11720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11720" } ], "weight": 0.0 }, { "disease_id": "DOID:11722", "name": "myotonic dystrophy type 1", "description": "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.", "url": "https://disease-ontology.org/term/DOID:11722", "evidence": [ { "id": "11722", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11722" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "muscle alpha-actinin binding", "id": "GO:0051371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051371", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprotkb/Q9JKS4" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", 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}, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "phosphatidylethanolamine flippase activity", "id": "GO:0090555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090555", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "phosphatidylcholine floppase activity", "id": "GO:0090554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090554", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "carboxylic acid transmembrane transporter activity", "id": "GO:0046943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046943", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ceramide floppase activity", "id": "GO:0099038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099038", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "floppase activity", "id": "GO:0140328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140328", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "phosphatidylethanolamine floppase activity", "id": "GO:0140341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140341", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "intercellular canaliculus", "id": "GO:0046581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046581", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "external side of apical plasma membrane", "id": "GO:0098591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098591", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" } ], "biological_process": [ { "name": "G2/M transition of mitotic cell cycle", "id": "GO:0000086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000086", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "aldosterone secretion", "id": "GO:0035932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035932", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "female gonad development", "id": 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"url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" } ], "biological_process": [ { "name": "heart valve development", "id": "GO:0003170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003170", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of protein export from nucleus", "id": "GO:0046827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046827", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of neuron projection development", "id": "GO:0010977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of muscle cell differentiation", "id": "GO:0051149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051149", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to alkaloid", "id": "GO:0071312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071312", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to peptide hormone stimulus", "id": "GO:0071375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071375", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "atrial septum development", "id": "GO:0003283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003283", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902254", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell migration", "id": "GO:1904754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904754", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to estrogen stimulus", "id": "GO:0071391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071391", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043518", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to ether", "id": "GO:0045472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045472", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "fibroblast activation", "id": "GO:0072537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072537", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "traversing start control point of mitotic cell cycle", "id": "GO:0007089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007089", "evidence": [ { "database": "UniProtKB", "id": "P23804", 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"name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 } ], "biological_process": [ { "name": "voluntary musculoskeletal movement", "id": "GO:0050882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050882", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "anterograde axonal protein transport", "id": "GO:0099641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099641", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": 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"Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "negative regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032435", "url": 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microtubule", "id": "GO:1902817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902817", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": 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"database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": 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"" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "homeostasis of number of cells within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, 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"https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac muscle tissue morphogenesis", "id": "GO:0055008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055008", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of glial cell proliferation", "id": "GO:0060253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060253", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell differentiation", "id": "GO:0045603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045603", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "glomerular mesangial cell development", "id": "GO:0072144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072144", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": 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"id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "left/right axis specification", "id": "GO:0070986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070986", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion molecule production", "id": "GO:0060354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060354", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cellular response to vascular endothelial growth factor stimulus", "id": "GO:0035924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035924", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "chemical synaptic transmission, postsynaptic", "id": "GO:0099565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099565", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "distal tubule development", "id": "GO:0072017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072017", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "collecting duct development", "id": "GO:0072044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072044", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cell-substrate adhesion", "id": "GO:0010812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010812", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of extracellular matrix assembly", "id": "GO:1901201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901201", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of myotube differentiation", "id": "GO:0010832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010832", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "somatic stem cell division", "id": "GO:0048103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048103", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "apoptotic process involved in embryonic digit morphogenesis", "id": "GO:1902263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902263", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "tube formation", "id": "GO:0035148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035148", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "luteolysis", "id": "GO:0001554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001554", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac right ventricle formation", "id": "GO:0003219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003219", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of somitogenesis", "id": "GO:0014807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014807", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of viral genome replication", "id": "GO:0045070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045070", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:0003198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003198", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cell migration involved in endocardial cushion formation", "id": "GO:0003273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003273", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of aorta morphogenesis", "id": "GO:1903849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903849", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "mesenchymal cell development", "id": "GO:0014031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014031", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of anoikis", "id": "GO:2000811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000811", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "pericardium morphogenesis", "id": "GO:0003344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003344", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac septum morphogenesis", "id": "GO:0060411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "heart trabecula morphogenesis", "id": "GO:0061384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061384", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endocardial cushion development", "id": "GO:0003197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003197", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of collagen biosynthetic process", "id": "GO:0032966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032966", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of astrocyte differentiation", "id": "GO:0048711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048711", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "compartment pattern specification", "id": "GO:0007386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007386", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of cell adhesion involved in heart morphogenesis", "id": "GO:0061344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061344", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cell proliferation involved in heart valve morphogenesis", "id": "GO:0003252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003252", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac atrium morphogenesis", "id": "GO:0003209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003209", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy", "id": "GO:0010614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010614", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac left ventricle morphogenesis", "id": "GO:0003214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003214", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "response to muramyl dipeptide", "id": "GO:0032495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032495", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of stem cell differentiation", "id": "GO:2000737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000737", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "venous blood vessel morphogenesis", "id": "GO:0048845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048845", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte differentiation", "id": "GO:0045618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045618", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of oligodendrocyte differentiation", "id": "GO:0048715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048715", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "auditory receptor cell fate commitment", "id": "GO:0009912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009912", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of biomineral tissue development", "id": "GO:0070168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070168", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of transcription of Notch receptor target", "id": "GO:0007221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007221", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "coronary sinus valve morphogenesis", "id": "GO:0003182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003182", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of extracellular matrix constituent secretion", "id": "GO:0003332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003332", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of cardiac epithelial to mesenchymal transition", "id": "GO:0062043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062043", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process involved in morphogenesis", "id": "GO:1902339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902339", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of inner ear auditory receptor cell differentiation", "id": "GO:0045607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045607", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "arterial endothelial cell differentiation", "id": "GO:0060842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060842", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac vascular smooth muscle cell development", "id": "GO:0060948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060948", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of pro-B cell differentiation", "id": "GO:2000974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000974", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "atrioventricular node development", "id": "GO:0003162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003162", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "growth involved in heart morphogenesis", "id": "GO:0003241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003241", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell differentiation", "id": "GO:0051152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051152", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endocardium development", "id": "GO:0003157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003157", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endocardium morphogenesis", "id": "GO:0003160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003160", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "coronary vein morphogenesis", "id": "GO:0003169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003169", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac chamber formation", "id": "GO:0003207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003207", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac right atrium morphogenesis", "id": "GO:0003213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003213", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "foregut morphogenesis", "id": "GO:0007440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007440", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cell differentiation in spinal cord", "id": "GO:0021515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021515", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060768", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "venous endothelial cell differentiation", "id": "GO:0060843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060843", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endocardial cell differentiation", "id": "GO:0060956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060956", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "vasculogenesis involved in coronary vascular morphogenesis", "id": "GO:0060979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060979", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion mediated by cadherin", "id": "GO:2000048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000048", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell chemotaxis", "id": "GO:2001027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001027", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "interleukin-17-mediated signaling pathway", "id": "GO:0097400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097400", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "T-helper 17 type immune response", "id": "GO:0072538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072538", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "MAML1-RBP-Jkappa- ICN1 complex", "id": "GO:0002193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002193", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "CSL-Notch-Mastermind transcription factor complex", "id": "GO:1990433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990433", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "Notch binding", "id": "GO:0005112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005112", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "transcription regulator activator activity", "id": "GO:0140537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140537", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1027", "end_pos": "1027", "site_lbl": "Ser1027", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 1027, "start_aa": "Ser", "end_pos": 1027, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1027", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "21757702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ], 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No significant effect on RFNG-, LFNG- and MFNG-mediated enhancement of its activation by DLL1. Decrease in LFNG- and MFNG-mediated inhibition of its activation by JAG1. Significant decrease in LFNG- and MFNG-mediated inhibition of its activation by JAG1; when associated with V-1402.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "28089369", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Thr311", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-fucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (Fuc...) threonine;O-fucosylation", "icn3d_view": {}, "start_pos": 311, "start_aa": "Thr", "end_pos": 311, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr311", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "V", "comment": "Significant loss of binding and activation by DLL1 or JAG1. Decrease in RFNG-, LFNG- and MFNG-mediated enhancement of its activation by DLL1. Decrease in LFNG-mediated inhibition of its activation by JAG1. Significant loss of binding and activation by DLL1 or JAG1 and complete loss of RFNG- and LFNG-mediated enhancement of its activation by DLL1; when associated with V-466. Decreased localization to the plasma membrane; when associated with A-435.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "28089369", "url": "https://glygen.org/publication/PubMed/28089369" }, { "database": "PubMed", "id": "30127001", "url": "https://glygen.org/publication/PubMed/30127001" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 341, "start_aa": "Ser", "end_pos": 341, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser341", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "21757702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "21757702", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Thr349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-fucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (Fuc...) threonine;O-fucosylation", "icn3d_view": {}, "start_pos": 349, "start_aa": "Thr", "end_pos": 349, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr349", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "V", "comment": "Reduced binding and activation by JAG1 but not DLL1. Decrease in MFNG-mediated enhancement of its activation by DLL1.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "28089369", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Ser378", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 378, "start_aa": "Ser", "end_pos": 378, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser378", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "21757702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "21757702", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Thr405", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 405, "start_aa": "Thr", "end_pos": 405, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr405", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q01705", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q01705" }, { "id": "33789105", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33789105" }, { "id": "24730386", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24730386" }, { "id": "22310717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22310717" }, { "id": "24573683", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24573683" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" }, { "id": "37838775", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37838775" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "38359610", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38359610" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "38474544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38474544" }, { "id": "28395734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28395734" }, { "id": "35290457", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35290457" }, { "id": "30018219", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30018219" }, { "id": "Q01705", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q01705" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Asn41", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CEVANGTEACVCSGAFVGQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 41, "start_aa": "Asn", "end_pos": 41, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn41", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Ser435", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 435, "start_aa": "Ser", "end_pos": 435, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser435", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "30127001", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30127001" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on localization to the plasma membrane. No effect on binding and activation by DLL1. Decreased localization to the plasma membrane; when associated with V-311.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "30127001", "url": "https://glygen.org/publication/PubMed/30127001" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Thr445", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 445, "start_aa": "Thr", "end_pos": 445, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr445", "evidence": [ { "id": "30018219", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30018219" }, { "id": "Q01705", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q01705" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Ser458", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=5KY8&bu=0&command=select+.B:458;+center+selection;+zoom+selection" }, "start_pos": 458, "start_aa": "Ser", "end_pos": 458, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser458", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "21757702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21757702" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" }, { "id": "5KY8", "database": "PDB", "url": "https://www.rcsb.org/structure/5KY8" }, { "id": "5KY8", "database": "PDB", "url": "https://www.rcsb.org/structure/5KY8" }, { "id": "5KY8|B|458", "database": "", "url": "" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "21757702", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Thr466", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G26238GL", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=2RQZ&bu=0&command=select+.A:15;+center+selection;+zoom+selection" }, "start_pos": 466, "start_aa": "Thr", "end_pos": 466, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr466", "evidence": [ { "id": "2RQZ", "database": "PDB", "url": "https://www.rcsb.org/structure/2RQZ" }, { "id": "2RQZ", "database": "PDB", "url": "https://www.rcsb.org/structure/2RQZ" }, { "id": "2RQZ|A|15", "database": "", "url": "" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-fucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (Fuc...) threonine;O-fucosylation", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=2RR2&bu=0&command=select+.A:15;+center+selection;+zoom+selection" }, "start_pos": 466, "start_aa": "Thr", "end_pos": 466, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr466", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "21757702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21757702" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" }, { "id": "2RR2", "database": "PDB", "url": "https://www.rcsb.org/structure/2RR2" }, { "id": "2RR2", "database": "PDB", "url": "https://www.rcsb.org/structure/2RR2" }, { "id": "2RR2|A|15", "database": "", "url": "" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "V", "comment": "Reduced binding and activation by DLL1 but not JAG1. Decrease in RFNG- and LFNG-mediated enhancement of its activation by DLL1. Loss of RFNG-mediated enhancement of its activation by JAG1. Significant loss of binding and activation by DLL1 or JAG1 and complete loss of RFNG- and LFNG-mediated enhancement of its activation by DLL1; when associated with V-311.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "28089369", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 496, "start_aa": "Ser", "end_pos": 496, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser496", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "21757702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "21757702", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Ser534", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 534, "start_aa": "Ser", "end_pos": 534, "end_aa": "Ser", "residue": "Ser", "site_lbl": 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"start_aa": "Thr", "end_pos": 559, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr559", "evidence": [ { "id": "30018219", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30018219" }, { "id": "Q01705", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q01705" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Thr596", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 596, "start_aa": "Thr", "end_pos": 596, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr596", "evidence": [ { "id": "30018219", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30018219" }, { "id": "Q01705", "database": 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"database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ser94", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 94, "start_aa": "Ser", "end_pos": 94, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser94", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q01705", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q01705" }, { "id": "33789105", "database": 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"sequence_org": "T", "sequence_mut": "V", "comment": "Reduced binding and activation by DLL1 but not JAG1. No effect on RFNG-, LFNG- and MFNG-mediated enhancement of its activation by DLL1. No effect on LFNG- and MFNG-mediated inhibition of its activation by JAG1.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "28089369", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "2152", "end_pos": "2152", "site_lbl": "Ser2152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q01705", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01705" }, { "database": "PubMed", "id": "27281612", "url": "https://glygen.org/publication/PubMed/27281612" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Pro110", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPC->NLC).", "chr_id": "2", "chr_pos": "26375273", "evidence": [ { "id": "rs3388530646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388530646" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1153", "end_pos": "1153", "site_lbl": "Pro1153", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPC->NLC).", "chr_id": "2", "chr_pos": "26360886", "evidence": [ { "id": "rs3388536934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388536934" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Ser890", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGN).", "chr_id": "2", "chr_pos": "26363764", "evidence": [ { "id": "rs3540203829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540203829" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "926", "end_pos": "926", "site_lbl": "Ile926", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (INT->NNT).", "chr_id": "2", "chr_pos": "26362988", "evidence": [ { "id": "rs3388540399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388540399" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1675", "end_pos": "1675", "site_lbl": "Cys1675", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Produces an activated, ligand-independent molecule; when associated with S-1682.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "10882062", "url": "https://glygen.org/publication/PubMed/10882062" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1682", "end_pos": "1682", "site_lbl": "Cys1682", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Produces an activated, ligand-independent molecule; when associated with S-1675.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "10882062", "url": "https://glygen.org/publication/PubMed/10882062" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1744", "end_pos": "1744", "site_lbl": "Val1744", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "NICD processing severely reduced.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1945", "end_pos": "1945", "site_lbl": "Asn1945", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Reduced ability to promote HIF1AN-dependent 2-oxoglutarate decarboxylation and greatly reduced transactivation capacity. 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Abolished ability to promote HIF1AN-dependent 2-oxoglutarate decarboxylation; when associated with A-1945.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "18299578", "url": "https://glygen.org/publication/PubMed/18299578" }, { "database": "PubMed", "id": "17573339", "url": "https://glygen.org/publication/PubMed/17573339" } ] } ] } ], "record_id": "Q01705-1" }, { "uniprot_canonical_ac": "Q6A037-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6A037", "url": "https://www.uniprot.org/uniprotkb/Q6A037" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 893, "chemical_mass": 99147.0, "gene_names": "N4bp1;Kiaa0615;N4bp1", "protein_name": "NEDD4-binding protein 1", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": 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"UniProtKB", "id": "O70372", "url": "https://www.uniprot.org/uniprotkb/O70372" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Tyr697", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70372", "url": "https://www.uniprot.org/uniprotkb/O70372" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Lys294", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KVS->NVS); glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776132", "evidence": [ { "id": "rs3389295819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389295819" } ] }, { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of 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markers.", "chr_id": "13", "chr_pos": "73790133", "evidence": [ { "id": "rs3389304586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389304586" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1014", "end_pos": "1014", "site_lbl": "Phe1014", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796094", "evidence": [ { "id": "rs3389276708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276708" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1017", "end_pos": "1017", "site_lbl": "Arg1017", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796104", "evidence": [ { "id": "rs49938708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49938708" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1027", "end_pos": "1027", "site_lbl": "Gly1027", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796133", "evidence": [ { "id": "rs49484392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49484392" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1029", "end_pos": "1029", "site_lbl": "Ile1029", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796139", "evidence": [ { "id": "rs3389250576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389250576" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1052", "end_pos": "1052", "site_lbl": "Ser1052", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796425", "evidence": [ { "id": "rs3389250566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389250566" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1053", "end_pos": "1053", "site_lbl": "Gly1053", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796427", "evidence": [ { "id": "rs3389288586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389288586" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1074", "end_pos": "1074", "site_lbl": "Ala1074", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796490", "evidence": [ { "id": "rs47918385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47918385" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1091", "end_pos": "1091", "site_lbl": "Lys1091", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73797035", "evidence": [ { "id": "rs3389292984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389292984" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1099", "end_pos": "1099", "site_lbl": "Glu1099", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73797058", "evidence": [ { "id": "rs3389250605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389250605" } ] }, { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73797059", "evidence": [ { "id": "rs3389306893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389306893" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Met113", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775587", "evidence": [ { "id": "rs3389285719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389285719" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ile128", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775633", "evidence": [ { "id": "rs47816597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47816597" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Trp137", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775661", "evidence": [ { "id": "rs3389294031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389294031" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Val170", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775758", "evidence": [ { "id": "rs3389258700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389258700" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Val198", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775842", "evidence": [ { "id": "rs246322005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246322005" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Gly199", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775846", "evidence": [ { "id": "rs47035940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47035940" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Gln210", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775878", "evidence": [ { "id": "rs3389288613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389288613" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ser213", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775888", "evidence": [ { "id": "rs3389300505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300505" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Arg216", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775897", "evidence": [ { "id": "rs47808416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47808416" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Gln217", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775901", "evidence": [ { "id": "rs3389292979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389292979" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Lys221", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775911", "evidence": [ { "id": "rs3550398730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550398730" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Lys246", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775988", "evidence": [ { "id": "rs3389276634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276634" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Ser268", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776053", "evidence": [ { "id": "rs3404332831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404332831" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Val304", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776161", "evidence": [ { "id": "rs242338484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242338484" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Gly32", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775242", "evidence": [ { "id": "rs3389219891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389219891" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776412", "evidence": [ { "id": "rs3389291125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389291125" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Arg443", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776577", "evidence": [ { "id": "rs229270797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229270797" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Cys460", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776629", "evidence": [ { "id": "rs239228712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239228712" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Lys482", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776694", "evidence": [ { "id": "rs3389250575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389250575" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Asp506", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776768", "evidence": [ { "id": "rs3404460696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404460696" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Trp509", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776775", "evidence": [ { "id": "rs3389266393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389266393" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Gly515", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73782271", "evidence": [ { "id": "rs3389300512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300512" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Phe536", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73782333", "evidence": [ { "id": "rs3389276656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276656" }, { "id": "rs3389295778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389295778" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Leu583", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73783547", "evidence": [ { "id": "rs3389276659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276659" } ] }, { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73783546", "evidence": [ { "id": "rs3389276694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276694" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Leu591", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73783570", "evidence": [ { "id": "rs47309231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47309231" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Val596", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73783585", "evidence": [ { "id": "rs3389219968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389219968" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "59", "end_pos": "59", "site_lbl": "His59", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775324", "evidence": [ { "id": "rs263642245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263642245" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Arg621", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73783661", "evidence": [ { "id": "rs3389258745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389258745" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Ile623", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 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], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "photoreceptor connecting cilium", "id": "GO:0032391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032391", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "intraciliary transport particle A", "id": "GO:0030991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030991", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6NWV3-1" }, { "uniprot_canonical_ac": "A2AG06-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 965, "chemical_mass": 108830.0, "gene_names": "Meioc;Gm1564;Gm663;Meioc", "protein_name": "Meiosis-specific coiled-coil domain-containing protein MEIOC", "disease": [], "biological_process": [ { "name": "metaphase chromosome alignment", "id": "GO:0051310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051310", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "female meiosis I", "id": "GO:0007144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007144", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "synaptonemal complex assembly", "id": "GO:0007130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007130", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "oocyte development", "id": "GO:0048599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048599", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "male meiosis I", "id": "GO:0007141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007141", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "chromosome organization involved in meiotic cell cycle", "id": "GO:0070192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070192", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "germline cell cycle switching, mitotic to meiotic cell cycle", "id": "GO:0051729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051729", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": 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"202", "site_lbl": "Asp202", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162065", "evidence": [ { "id": "rs3389259825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389259825" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ile204", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162058", "evidence": [ { "id": "rs3389292371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389292371" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Cys235", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161321", "evidence": [ { "id": "rs3389295269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389295269" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Val23", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55167170", "evidence": [ { "id": "rs232507841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232507841" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Val241", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161303", "evidence": [ { "id": "rs3389278236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389278236" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Asp242", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161224", "evidence": [ { "id": "rs3403432944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3403432944" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ala247", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161209", "evidence": [ { "id": "rs3508030546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508030546" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Tyr249", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161204", "evidence": [ { "id": "rs3389286399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389286399" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Glu251", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161197", "evidence": [ { "id": "rs3389280405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389280405" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Arg254", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161189", "evidence": [ { "id": "rs29533853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29533853" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Arg265", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161155", "evidence": [ { "id": "rs3550185899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550185899" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161143", "evidence": [ { "id": "rs3389243052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389243052" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ile270", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161140", "evidence": [ { "id": "rs3389286535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389286535" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Tyr276", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161123", "evidence": [ { "id": "rs226701144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226701144" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Leu292", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161075", "evidence": [ { "id": "rs3389252594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389252594" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Gln302", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161043", "evidence": [ { "id": "rs3389283303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389283303" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Ile308", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55160397", "evidence": [ { "id": "rs3389213618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389213618" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Leu321", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55160357", "evidence": [ { "id": "rs3389252635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389252635" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Leu35", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162579", "evidence": [ { "id": "rs3389283263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389283263" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Arg375", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159849", "evidence": [ { "id": "rs3389268000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268000" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Tyr384", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159987", "evidence": [ { "id": "rs49722114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49722114" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Arg430", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159849", "evidence": [ { "id": "rs3389268000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268000" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Thr443", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159227", "evidence": [ { "id": "rs244787129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244787129" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Leu474", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159134", "evidence": [ { "id": "rs3550179682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550179682" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Met495", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159072", "evidence": [ { "id": "rs47248029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47248029" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ile4", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55167227", "evidence": [ { "id": "rs3389285769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389285769" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Ala500", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159057", "evidence": [ { "id": "rs49232243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49232243" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Phe536", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158837", "evidence": [ { "id": "rs3389286529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389286529" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Val548", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158801", "evidence": [ { "id": "rs3389286360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389286360" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Arg552", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158788", "evidence": [ { "id": "rs3550293961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550293961" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Gly556", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158777_55158778insTCAACCATCAC", "evidence": [ { "id": "rs3389213685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389213685" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162876", "evidence": [ { "id": "rs3389282275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389282275" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Pro602", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158560", "evidence": [ { "id": "rs3389295222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389295222" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Lys612", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158529", "evidence": [ { "id": "rs3389278256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389278256" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162489", "evidence": [ { "id": "rs232784901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232784901" } ] }, { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162489", "evidence": [ { "id": "rs232784901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232784901" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "676", "end_pos": "676", "site_lbl": "Arg676", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55156511", "evidence": [ { "id": "rs3389285824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389285824" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Arg71", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162828", "evidence": [ { "id": "rs3389278211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389278211" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Arg729", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55154689", "evidence": [ { "id": "rs29516005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29516005" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55154658", "evidence": [ { "id": "rs232064575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232064575" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Arg774", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55154689", "evidence": [ { "id": "rs29516005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29516005" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "776", "end_pos": "776", "site_lbl": "Gln776", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55154681", "evidence": [ { "id": "rs3389213668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389213668" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Arg784", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55154658", "evidence": [ { "id": "rs232064575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232064575" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "803", "end_pos": "803", "site_lbl": 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"description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "basal cortex", "id": "GO:0045180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045180", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" } ], "molecular_function": [ { "name": "glucokinase activity", "id": "GO:0004340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004340", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "fructokinase activity", "id": "GO:0008865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008865", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "mannokinase activity", "id": "GO:0019158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019158", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "hexokinase activity", "id": "GO:0004396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004396", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "D-glucose binding", "id": "GO:0005536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005536", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glucose sensor activity", "id": "GO:0141089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141089", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" } ], "biological_process": [ { "name": "NADP+ metabolic process", "id": "GO:0006739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006739", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "negative regulation of epinephrine secretion", "id": "GO:0032811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032811", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "positive regulation of glycogen biosynthetic process", "id": "GO:0045725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045725", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "negative regulation of gluconeogenesis", "id": "GO:0045721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045721", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "regulation of potassium ion transport", "id": "GO:0043266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043266", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "fructose 2,6-bisphosphate metabolic process", "id": "GO:0006003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006003", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "mannose metabolic process", "id": "GO:0006013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006013", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glucose catabolic process", "id": "GO:0006007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006007", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cellular response to leptin stimulus", "id": "GO:0044320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044320", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389140886" } ] } ] }, { "uniprot_canonical_ac": "P52792-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Ser383", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "11", "chr_pos": "5852190", "evidence": [ { "id": "rs3389140875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389140875" } ] } ] }, { "uniprot_canonical_ac": "P52792-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Val412", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "11", "chr_pos": "5852104", "evidence": [ { "id": "rs3389136922", "database": "dbSNP", "url": 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type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation.", "url": "https://disease-ontology.org/term/DOID:633", "evidence": [ { "id": "633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:633" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": 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"https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of RNA splicing", "id": "GO:0033120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033120", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": 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"sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q922G7", "url": "https://www.uniprot.org/uniprotkb/Q922G7" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q922G7", "url": "https://www.uniprot.org/uniprotkb/Q922G7" } ], "pmid": "" }, { "name": "axonemal A tubule inner sheath", "id": "GO:0160111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160111", "evidence": [ { "database": "UniProtKB", "id": "Q922G7", "url": "https://www.uniprot.org/uniprotkb/Q922G7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q922G7-1" }, { "uniprot_canonical_ac": "Q91WS2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 869, "chemical_mass": 97402.0, "gene_names": "Nlrp6;Avr;Nalp6;Navr/Avr;Navr;Nlrp6;Non-AVR;Pypaf5", "protein_name": "NACHT, LRR and PYD domains-containing protein 6", "disease": [], "biological_process": [ { "name": "interleukin-1-mediated signaling pathway", "id": "GO:0070498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070498", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "positive regulation of interleukin-18 production", "id": "GO:0032741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032741", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "interleukin-18-mediated signaling pathway", "id": "GO:0035655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035655", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "negative regulation of toll-like receptor signaling pathway", "id": "GO:0034122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034122", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "negative regulation of immune response", "id": "GO:0050777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050777", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "acute inflammatory response to antigenic stimulus", "id": "GO:0002438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002438", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "neutrophil-mediated killing of gram-positive bacterium", "id": "GO:0070946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070946", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "necroptotic process", "id": "GO:0070266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070266", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "regulation of mucus secretion", "id": "GO:0070255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070255", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "positive regulation of interleukin-18-mediated signaling pathway", "id": "GO:2000494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000494", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "NLRP6 inflammasome complex assembly", "id": "GO:0140739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140739", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "host-mediated modulation of intestinal microbiota composition", "id": "GO:0048874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048874", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "lipoteichoic acid binding", "id": "GO:0070891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070891", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "vasopressin receptor activity", "id": "GO:0005000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005000", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "canonical inflammasome complex", "id": "GO:0061702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061702", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "membraneless organelle", "id": "GO:0043228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043228", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "NLRP6 inflammasome complex", "id": "GO:0140738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140738", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q91WS2-1" }, { "uniprot_canonical_ac": "P35951-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 862, "chemical_mass": 94947.0, "gene_names": "Ldlr;Hlb301;Ldlr", "protein_name": "Low-density lipoprotein receptor", "disease": [ { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:10230", "name": "aortic atherosclerosis", "description": "An atherosclerosis of the aorta.", "url": "https://disease-ontology.org/term/DOID:10230", "evidence": [ { "id": "10230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10230" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:12783", "name": "migraine without aura", "description": "A migraine that is characterized by migraine headaches that are not accompanied by an aura.", "url": "https://disease-ontology.org/term/DOID:12783", "evidence": [ { "id": "12783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12783" } ], "weight": 0.0 }, { "disease_id": "DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:3345", "name": "xanthomatosis", "description": "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.", "url": "https://disease-ontology.org/term/DOID:3345", "evidence": [ { "id": "3345", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3345" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of microglial cell activation", "id": "GO:1903979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903979", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of lysosomal protein catabolic process", "id": "GO:1905167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905167", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "retinoid metabolic process", "id": "GO:0001523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001523", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of triglyceride catabolic process", "id": "GO:0010898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010898", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "regulation of cholesterol metabolic process", "id": "GO:0090181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090181", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "intestinal cholesterol absorption", "id": "GO:0030299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030299", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of low-density lipoprotein particle clearance", "id": "GO:0010989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010989", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "low-density lipoprotein particle clearance", "id": "GO:0034383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034383", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "high-density lipoprotein particle clearance", "id": "GO:0034384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034384", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cholesterol import", "id": "GO:0070508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070508", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of receptor recycling", "id": "GO:0001920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001920", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "lipoprotein catabolic process", "id": "GO:0042159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042159", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "regulation of protein metabolic process", "id": "GO:0051246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051246", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis involved in cholesterol transport", "id": "GO:0090118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090118", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "plasma lipoprotein particle clearance", "id": "GO:0034381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034381", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cellular response to low-density lipoprotein particle stimulus", "id": "GO:0071404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071404", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cellular response to fatty acid", "id": "GO:0071398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071398", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of triglyceride biosynthetic process", "id": "GO:0010867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010867", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of amyloid fibril formation", "id": "GO:1905907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905907", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "regulation of phosphatidylcholine catabolic process", "id": "GO:0010899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010899", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of protein metabolic process", "id": "GO:0051248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051248", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of astrocyte activation", "id": "GO:0061889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061889", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "amyloid-beta clearance by cellular catabolic process", "id": "GO:0150094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150094", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "regulation of lipid catabolic process", "id": "GO:0050994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050994", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of triglyceride metabolic process", "id": "GO:0090208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090208", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of catabolic process", "id": "GO:0009896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009896", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle receptor activity", "id": "GO:0030229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030229", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "lipoprotein particle binding", "id": "GO:0071813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor activity", "id": "GO:0005041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005041", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "low-density lipoprotein particle binding", "id": "GO:0030169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030169", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { 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"https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "IPAF inflammasome complex", "id": "GO:0072557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072557", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "detection of bacterium", "id": "GO:0016045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016045", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "activation of innate immune response", "id": "GO:0002218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002218", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UP24-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Ser533", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" }, { "database": "PubMed", "id": "22885697", "url": "https://glygen.org/publication/PubMed/22885697" }, { "database": "PubMed", "id": "23765277", "url": "https://glygen.org/publication/PubMed/23765277" }, { "database": "iPTMnet", "id": "Q3UP24", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UP24" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation and prevents activation of caspase-1 and pyroptosis in response to S.typhimurium.", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" }, { "database": "PubMed", "id": "22885697", "url": "https://glygen.org/publication/PubMed/22885697" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Mimics phosphorylation; causes rapid macrophage pyroptosis without infection.", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" }, { "database": "PubMed", "id": "22885697", "url": "https://glygen.org/publication/PubMed/22885697" } ] } ] }, { "uniprot_canonical_ac": "Q3UP24-1", "start_pos": "443", "end_pos": "443", "site_lbl": "His443", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Constitutively active.", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" }, { "database": "PubMed", "id": "23765277", "url": "https://glygen.org/publication/PubMed/23765277" } ] } ] } ], "record_id": "Q3UP24-1" }, { "uniprot_canonical_ac": "Q505F1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 590, "chemical_mass": 65476.0, "gene_names": "Nr2c1;4831444H07Rik;80.3;Eenr;Nr2c1;TR2;Tr2-11;Tr2", "protein_name": "Nuclear receptor subfamily 2 group C member 1", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "positive regulation of retinoic acid receptor signaling pathway", "id": "GO:0048386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048386", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "16317770", "url": "https://glygen.org/publication/PubMed/16317770" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation and little effect on binding KAT2B. Some reduced DNA-binding. Greatly reduced DNA-binding, binding to KAT2B and activation of the RARB promoter; when associated with A-170.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" }, { "database": "PubMed", "id": "16317770", "url": "https://glygen.org/publication/PubMed/16317770" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Thr208", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Thr210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes sumoylation. No repression of OCT4 gene expression with or without retinoic acid and enhanced interaction with KAT2B and HDAC3. Abolishes interaction with HDAC3 and PML association; when associated with R-238.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] }, { "sequence_org": "T", "sequence_mut": "E", "comment": "Sumoylated. Repressed OCT4 gene expression. Enhanced interaction with KAT2B; when associated with R-238.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ser461", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" }, { "database": "PubMed", "id": "16130175", "url": "https://glygen.org/publication/PubMed/16130175" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Little effect on PKC-stimulated protein stability nor on activation of RARB reporter.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] }, { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Ser568", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" }, { "database": "PubMed", "id": "16130175", "url": "https://glygen.org/publication/PubMed/16130175" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Greatly reduced PKC-stimulated protein stability and activation of RARB reporter.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] }, { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Lys167", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "17187077", "url": "https://glygen.org/publication/PubMed/17187077" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation nor on DNA-binding and little effect on binding KAT2B. Greatly reduced DNA-binding, binding to KAT2B and activation of the RARB promoter; when associated with A-185.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" }, { "database": "PubMed", "id": "16317770", "url": "https://glygen.org/publication/PubMed/16317770" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Lys238", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes sumoylation. Strongly associated with PML nuclear bodies. No effect on activation of OCT4 but activation not suppressed by additional SUMO1. Increased binding to KAT2B and reduced binding to NRIP1. Abolishes PML association; when associated with A-210.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" }, { "database": "PubMed", "id": "17187077", "url": "https://glygen.org/publication/PubMed/17187077" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes sumoylation. No effect on activation of OCT4 but activation not suppressed by additional SUMO1. 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characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. 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"https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9255", "name": "frontotemporal dementia", "description": "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.", "url": "https://disease-ontology.org/term/DOID:9255", "evidence": [ { "id": "9255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9255" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of microtubule polymerization or depolymerization", "id": "GO:0031110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031110", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of intracellular transport", "id": "GO:0032387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032387", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "microtubule polymerization", "id": "GO:0046785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046785", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "mitochondrion transport along microtubule", "id": "GO:0047497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047497", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of establishment of protein localization to mitochondrion", "id": "GO:1903748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903748", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "axo-dendritic transport", "id": "GO:0008088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008088", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "regulation of cellular response to heat", "id": "GO:1900034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900034", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial membrane potential", "id": "GO:0010917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010917", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fission", "id": "GO:0090258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090258", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to oxidative stress", "id": "GO:0008631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008631", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "supramolecular fiber organization", "id": "GO:0097435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097435", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of tubulin deacetylation", "id": "GO:1904428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904428", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "regulation of calcium-mediated signaling", "id": "GO:0050848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050848", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic depression", "id": "GO:1900454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900454", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of protein localization to synapse", "id": "GO:1902474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902474", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "regulation of microtubule-based movement", "id": "GO:0060632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060632", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "enzyme inhibitor activity", "id": "GO:0004857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004857", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "apolipoprotein binding", "id": "GO:0034185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034185", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "lipoprotein particle binding", "id": "GO:0071813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "microtubule lateral binding", "id": "GO:0099609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099609", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "postsynaptic 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"id": "F2Z461", "url": "https://www.uniprot.org/uniprotkb/F2Z461" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "F2Z461", "url": "https://www.uniprot.org/uniprotkb/F2Z461" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "F2Z461", "url": "https://www.uniprot.org/uniprotkb/F2Z461" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "F2Z461", "url": "https://www.uniprot.org/uniprotkb/F2Z461" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "F2Z461", "url": "https://www.uniprot.org/uniprotkb/F2Z461" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "F2Z461", "url": "https://www.uniprot.org/uniprotkb/F2Z461" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "F2Z461", "url": "https://www.uniprot.org/uniprotkb/F2Z461" } ], "pmid": "" }, { "name": "cyclin binding", "id": "GO:0030332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030332", "evidence": [ { "database": "UniProtKB", "id": "F2Z461", "url": "https://www.uniprot.org/uniprotkb/F2Z461" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F2Z461-1" }, { "uniprot_canonical_ac": "Q3U1G5-1", "species": [ { "name": "Mus 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"https://www.ebi.ac.uk/QuickGO/term/GO:0000175", "evidence": [ { "database": "UniProtKB", "id": "Q3U1G5", "url": "https://www.uniprot.org/uniprotkb/Q3U1G5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3U1G5-1" }, { "uniprot_canonical_ac": "Q80T19-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 83, "chemical_mass": 9410.0, "gene_names": "Hamp2;1810073K19Rik;HEPC2;Hamp2;Hepc2", "protein_name": "Hepcidin-2", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0111032", "name": "hemochromatosis type 2B", "description": "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0111032", "evidence": [ { "id": "0111032", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111032" } ], "weight": 0.0 }, { "disease_id": 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"https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:1340", "name": "pure red-cell aplasia", "description": "A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.", "url": "https://disease-ontology.org/term/DOID:1340", "evidence": [ { "id": "1340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1340" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { 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"Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "positive regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061051", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "negative regulation of iron ion transmembrane transport", "id": "GO:0034760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034760", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "defense response to fungus", "id": "GO:0050832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050832", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "multicellular organismal-level iron ion homeostasis", "id": "GO:0060586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060586", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "positive regulation of protein polyubiquitination", "id": "GO:1902916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902916", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "negative regulation of iron export 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"site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 59, "start_aa": "Asn", "end_pos": 59, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn59", "evidence": [ { "id": "O09030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O09030#ptm_processing" } ] } ] } ], "record_id": "O09030-1" }, { "uniprot_canonical_ac": "O88786-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 383, "chemical_mass": 44483.0, "gene_names": "Il13ra2;CD213a2;IL-13R-alpha-2;Il13ra2", "protein_name": "Interleukin-13 receptor subunit alpha-2", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "interleukin-13-mediated signaling pathway", "id": "GO:0035772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035772", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "negative regulation of mast cell degranulation", "id": "GO:0043305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043305", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "negative regulation of immunoglobulin 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.", "url": "https://disease-ontology.org/term/DOID:12287", "evidence": [ { "id": "12287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12287" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. 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The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of defense response to virus by host", "id": "GO:0050691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050691", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" }, { "name": "B cell activation involved in immune response", "id": "GO:0002312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002312", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" }, { "name": "type I interferon-mediated signaling pathway", "id": "GO:0060337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060337", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" }, { "name": "adaptive 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response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" }, { "name": "natural killer cell activation involved in immune response", "id": "GO:0002323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002323", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" } ], 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The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.", "url": "https://disease-ontology.org/term/DOID:12287", "evidence": [ { "id": "12287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12287" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 } ], "biological_process": [ { "name": "B cell activation involved in immune 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"GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" }, { "name": "T cell activation involved in immune response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" }, { "name": "natural killer cell activation involved in immune response", "id": "GO:0002323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002323", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" }, { "name": "type I interferon receptor binding", "id": "GO:0005132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005132", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" }, { "name": "cytokine receptor binding", "id": "GO:0005126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005126", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" } ], 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"P09025", "url": "https://www.uniprot.org/uniprotkb/P09025" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P09025", "url": "https://www.uniprot.org/uniprotkb/P09025" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P09025", "url": "https://www.uniprot.org/uniprotkb/P09025" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P09025-1" }, { "uniprot_canonical_ac": "P09092-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P09092", "url": "https://www.uniprot.org/uniprotkb/P09092" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 232, "chemical_mass": 26335.0, "gene_names": "Hoxa6;Hox-1.2;Hoxa-6;Hoxa6", "protein_name": "Homeobox protein Hox-A6", "disease": [ { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P09092", "url": "https://www.uniprot.org/uniprotkb/P09092" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P09092", "url": "https://www.uniprot.org/uniprotkb/P09092" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": 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"name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P41139", "url": "https://www.uniprot.org/uniprotkb/P41139" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P41139", "url": "https://www.uniprot.org/uniprotkb/P41139" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P41139", "url": "https://www.uniprot.org/uniprotkb/P41139" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "P41139", "url": "https://www.uniprot.org/uniprotkb/P41139" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": 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[ { "id": "rs3411928354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411928354" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Ser330", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20946366", "evidence": [ { "id": "rs3389007566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389007566" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Ala360", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20946456", "evidence": [ { "id": "rs231468234", "database": "dbSNP", "url": 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995078" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Ser631", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20947994", "evidence": [ { "id": "rs237054434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237054434" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "633", "end_pos": "633", "site_lbl": "Thr633", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20948000", "evidence": [ { "id": "rs3389020882", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q60625-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Gly761", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20948931", "evidence": [ { "id": "rs3388995036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995036" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Pro774", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20948969", "evidence": [ { "id": "rs3389026515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389026515" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "812", "end_pos": "812", "site_lbl": "Cys812", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20949083", "evidence": [ { "id": "rs3389019706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389019706" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "832", "end_pos": "832", "site_lbl": "Pro832", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20949937", "evidence": [ { "id": "rs3389019613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389019613" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Ala845", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20949976", "evidence": [ { "id": "rs3389002728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002728" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "850", "end_pos": "850", "site_lbl": "Ala850", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20949991", "evidence": [ { "id": "rs3389029938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389029938" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Thr861", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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], "length": 263, "chemical_mass": 28061.0, "gene_names": "Il15ra;IL-15RA;Il15ra", "protein_name": "Interleukin-15 receptor subunit alpha", "disease": [ { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "interleukin-15 receptor complex", "id": "GO:1905543", "url": 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"evidence": [ { "id": "rs3389348421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389348421" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Leu199", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18070325", "evidence": [ { "id": "rs3389429055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389429055" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Cys210", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18070291", "evidence": [ { "id": "rs3389427277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389427277" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Arg264", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18068562", "evidence": [ { "id": "rs3407517460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407517460" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Val272", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18068538", "evidence": [ { "id": "rs3389452456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389452456" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Ser283", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18068505", "evidence": [ { "id": "rs3389436241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436241" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Phe294", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18068471", "evidence": [ { "id": "rs3389383971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389383971" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Lys333", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18067891", "evidence": [ { "id": "rs3389438922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438922" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Ser353", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18067830", "evidence": [ { "id": "rs3389435343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389435343" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Thr358", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18067816", "evidence": [ { "id": "rs3389438921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438921" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ala40", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18070802", "evidence": [ { "id": "rs16783666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs16783666" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Thr423", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18064371", "evidence": [ { "id": "rs3389384049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389384049" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Gly431", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18064346_18064347insACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3389435382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389435382" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Arg432", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18064344", "evidence": [ { "id": "rs3389414837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389414837" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Pro433", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18064340", "evidence": [ { "id": "rs3389435308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389435308" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Ala455", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18064275", "evidence": [ { "id": "rs3389414847", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q61647-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Asp48", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18070776", "evidence": [ { "id": "rs3389429267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389429267" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Arg49", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18070775", "evidence": [ { "id": "rs16783665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs16783665" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Pro6", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18070904", "evidence": [ { "id": "rs16783671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs16783671" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ala89", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18070654", "evidence": [ { "id": "rs1134356182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134356182" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Asp242", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of both activities.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Ser311", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Gly312", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "P", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Pro313", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "G", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Leu314", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "75% decrease of both activities.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Loss of HA activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Asp344", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of both activities.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Gln380", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "N", "comment": "85%-90% decrease of both activities.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Arg383", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "85%-90% decrease of both activities.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Trp384", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "Y", "comment": "Loss of both activities.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] } ], "record_id": "Q61647-1" }, { "uniprot_canonical_ac": "Q61716-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61716", "url": "https://www.uniprot.org/uniprotkb/Q61716" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 190, "chemical_mass": 21736.0, "gene_names": "Ifna11;IFN-[a]11;If1ai10;Ifna11", "protein_name": "Interferon alpha-11", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.", "url": "https://disease-ontology.org/term/DOID:12287", "evidence": [ { "id": "12287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12287" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. 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], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6PHB0", "url": "https://www.uniprot.org/uniprotkb/Q6PHB0" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q6PHB0", "url": "https://www.uniprot.org/uniprotkb/Q6PHB0" } ], "pmid": "" }, { "name": "interleukin-20 receptor complex", "id": "GO:0030876", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030876", "evidence": [ { "database": "UniProtKB", "id": "Q6PHB0", "url": "https://www.uniprot.org/uniprotkb/Q6PHB0" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine receptor activity", "id": "GO:0004896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004896", "evidence": [ { "database": "UniProtKB", "id": "Q6PHB0", "url": "https://www.uniprot.org/uniprotkb/Q6PHB0" } ], "pmid": 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"iPTMnet", "id": "Q07113", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07113" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Thr397", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NQT->NQI); glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12945083", "evidence": [ { "id": "rs3389401662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389401662" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "712", "end_pos": "712", "site_lbl": "Lys712", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NEK->NET); glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934833", "evidence": [ { "id": "rs3407484561", "database": "dbSNP", "url": 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} ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1133", "end_pos": "1133", "site_lbl": "Gly1133", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12923683", "evidence": [ { "id": "rs3389382838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382838" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1170", "end_pos": "1170", "site_lbl": "Cys1170", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12923572", "evidence": [ { "id": "rs3389432383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432383" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1173", "end_pos": "1173", "site_lbl": 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"uniprot_canonical_ac": "Q07113-1", "start_pos": "1663", "end_pos": "1663", "site_lbl": "Thr1663", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12916369", "evidence": [ { "id": "rs3389432878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432878" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1721", "end_pos": "1721", "site_lbl": "Thr1721", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12914307", "evidence": [ { "id": "rs3389432369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432369" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1779", "end_pos": "1779", "site_lbl": "Val1779", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12913012", "evidence": [ { "id": "rs33606153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33606153" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1793", "end_pos": "1793", "site_lbl": "Lys1793", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "SDG*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12912969_12912970insCCACACTACCTCAACCAT", "evidence": [ { "id": "rs3389436069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436069" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1794", "end_pos": "1794", "site_lbl": "Thr1794", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12912967", "evidence": [ { "id": "rs3389436035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436035" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1839", "end_pos": "1839", "site_lbl": "Gly1839", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12912110", "evidence": [ { "id": "rs49586086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49586086" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1886", "end_pos": "1886", "site_lbl": "Cys1886", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12911968", "evidence": [ { "id": "rs3389436051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436051" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1958", "end_pos": "1958", "site_lbl": "Arg1958", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910945", "evidence": [ { "id": "rs3389432871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432871" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1984", "end_pos": "1984", "site_lbl": "Lys1984", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910865", "evidence": [ { "id": "rs3407570663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407570663" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1986", "end_pos": "1986", "site_lbl": "Glu1986", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910861", "evidence": [ { "id": "rs3389436055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436055" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2005", "end_pos": "2005", "site_lbl": "Thr2005", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910803", "evidence": [ { "id": "rs3389424467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389424467" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2014", "end_pos": "2014", "site_lbl": "Gly2014", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910776", "evidence": [ { "id": "rs3389432852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432852" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2019", "end_pos": "2019", "site_lbl": "Ile2019", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910172", "evidence": [ { "id": "rs3389432825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432825" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2027", "end_pos": "2027", "site_lbl": "Lys2027", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910149", "evidence": [ { "id": "rs3389432392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432392" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2075", "end_pos": "2075", "site_lbl": "Cys2075", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12909095", "evidence": [ { "id": "rs3413002785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413002785" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2091", "end_pos": "2091", "site_lbl": "Lys2091", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12909046", "evidence": [ { "id": "rs3389431323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431323" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2103", "end_pos": "2103", "site_lbl": "Ser2103", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12908016", "evidence": [ { "id": "rs3552912719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552912719" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2127", "end_pos": "2127", "site_lbl": "Met2127", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12907943", "evidence": [ { "id": "rs3389442740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442740" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2128", "end_pos": "2128", "site_lbl": "Val2128", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12907941", "evidence": [ { "id": "rs3389432360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432360" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2153", "end_pos": "2153", "site_lbl": "Ala2153", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12907379", "evidence": [ { "id": "rs3389425349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425349" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2201", "end_pos": "2201", "site_lbl": "Gly2201", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12907235", "evidence": [ { "id": "rs3389382814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382814" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2226", "end_pos": "2226", "site_lbl": "Gly2226", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12905653", "evidence": [ { "id": "rs3389436009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436009" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2232", "end_pos": "2232", "site_lbl": "Ser2232", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12905635", "evidence": [ { "id": "rs13475273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13475273" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2249", "end_pos": "2249", "site_lbl": "Ile2249", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12905585", "evidence": [ { "id": "rs3389347904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347904" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2251", "end_pos": "2251", "site_lbl": "Glu2251", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12905577", "evidence": [ { "id": "rs3389393301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389393301" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2275", "end_pos": "2275", "site_lbl": "Val2275", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904619", "evidence": [ { "id": "rs3389438622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438622" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904620", "evidence": [ { "id": "rs3389424449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389424449" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2285", "end_pos": "2285", "site_lbl": "Glu2285", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904588", "evidence": [ { "id": "rs3389442733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442733" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2291", "end_pos": "2291", "site_lbl": "Glu2291", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904572", "evidence": [ { "id": "rs3389431266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431266" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2294", "end_pos": "2294", "site_lbl": "Gln2294", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904562", "evidence": [ { "id": "rs3389382854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382854" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Leu22", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12988356", "evidence": [ { "id": "rs3407402738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407402738" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2302", "end_pos": "2302", "site_lbl": "Leu2302", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904539", "evidence": [ { "id": "rs3389425641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425641" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2305", "end_pos": "2305", "site_lbl": "Val2305", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904530", "evidence": [ { "id": "rs3389432807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432807" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2312", "end_pos": "2312", "site_lbl": "Leu2312", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904509", "evidence": [ { "id": "rs3389401691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389401691" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2332", "end_pos": "2332", "site_lbl": "Cys2332", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904065", "evidence": [ { "id": "rs3407570654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407570654" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2333", "end_pos": "2333", "site_lbl": "Cys2333", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904062", "evidence": [ { "id": "rs3407356813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407356813" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2334", "end_pos": "2334", "site_lbl": "Arg2334", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904060", "evidence": [ { "id": "rs3407748001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407748001" } ] }, { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904058", "evidence": [ { "id": "rs3407570665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407570665" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2335", "end_pos": "2335", "site_lbl": "Arg2335", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904055", "evidence": [ { "id": "rs3407457939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407457939" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2348", "end_pos": "2348", "site_lbl": "Lys2348", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12903007", "evidence": [ { "id": "rs3389413500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389413500" } ] }, { "sequence_org": "K", "sequence_mut": "NG*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12903005_12903006insACACTACCTCAA", "evidence": [ { "id": "rs3389424425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389424425" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2366", "end_pos": "2366", "site_lbl": "Val2366", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902952", "evidence": [ { "id": "rs224549791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224549791" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2383", "end_pos": "2383", "site_lbl": "Thr2383", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902901", "evidence": [ { "id": "rs3389413581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389413581" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2410", "end_pos": "2410", "site_lbl": "Glu2410", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902821", "evidence": [ { "id": "rs3389431316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431316" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2418", "end_pos": "2418", "site_lbl": "Gly2418", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902797", "evidence": [ { "id": "rs3389432896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432896" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2430", "end_pos": "2430", "site_lbl": "Pro2430", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902761", "evidence": [ { "id": "rs3389401725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389401725" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2434", "end_pos": "2434", "site_lbl": "Val2434", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902748", "evidence": [ { "id": "rs257673939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257673939" } ] }, { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902749", "evidence": [ { "id": "rs223434790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223434790" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2438", "end_pos": "2438", "site_lbl": "Arg2438", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902737", "evidence": [ { "id": "rs3389442753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442753" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2470", "end_pos": "2470", "site_lbl": "Val2470", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902641", "evidence": [ { "id": "rs3389449114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389449114" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Lys261", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12950380_12950381insCAACCAT", "evidence": [ { "id": "rs3389438680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438680" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Asn271", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12950351", "evidence": [ { "id": "rs3407484570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407484570" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Pro275", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12950339", "evidence": [ { "id": "rs3389382805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382805" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Pro284", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12950311", "evidence": [ { "id": "rs3389432856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432856" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Gly351", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12945222", "evidence": [ { "id": "rs3406502421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406502421" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Leu368", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12945171", "evidence": [ { "id": "rs3389432351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432351" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Gln378", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12945141", "evidence": [ { "id": "rs3389431320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431320" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Thr385", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12945120", "evidence": [ { "id": "rs3389425666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425666" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Phe427", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12944223", "evidence": [ { "id": "rs3389431305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431305" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Tyr459", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12941103", "evidence": [ { "id": "rs3389347851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347851" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Leu468", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12941078", "evidence": [ { "id": "rs3389347873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347873" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Asn474", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12941060", "evidence": [ { "id": "rs108744529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108744529" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Gln492", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12938829", "evidence": [ { "id": "rs258006004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258006004" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Tyr507", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12938783", "evidence": [ { "id": "rs227113420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227113420" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ala522", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12938739", "evidence": [ { "id": "rs3389413512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389413512" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Glu527", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12938724", "evidence": [ { "id": "rs3389435992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389435992" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Ala533", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12938705", "evidence": [ { "id": "rs3389425339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425339" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "555", "end_pos": "555", "site_lbl": "His555", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12937622", "evidence": [ { "id": "rs3389431264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431264" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Asp565", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12937593", "evidence": [ { "id": "rs3389442766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442766" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Phe600", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12936247", "evidence": [ { "id": "rs3405631437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405631437" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Asn62", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12967620", "evidence": [ { "id": "rs3389425624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425624" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Lys680", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934930", "evidence": [ { "id": "rs3389393254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389393254" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Ser681", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934926", "evidence": [ { "id": "rs3389432855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432855" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Leu6", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12988404", "evidence": [ { "id": "rs3553230121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553230121" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Asn709", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934843", "evidence": [ { "id": "rs3389442728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442728" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "717", "end_pos": "717", "site_lbl": "Ala717", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934819", "evidence": [ { "id": "rs3406810172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406810172" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "730", "end_pos": "730", "site_lbl": "Val730", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934780", "evidence": [ { "id": "rs3389347839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347839" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Pro757", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934319", "evidence": [ { "id": "rs864275034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864275034" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Met768", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934287", "evidence": [ { "id": "rs3389393283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389393283" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "800", "end_pos": "800", "site_lbl": "Arg800", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12933854", "evidence": [ { "id": "rs3389449187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389449187" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "804", "end_pos": "804", "site_lbl": "Leu804", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12933843", "evidence": [ { "id": "rs3389431324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431324" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Met80", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12967565", "evidence": [ { "id": "rs3389425341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425341" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "812", "end_pos": "812", "site_lbl": "Pro812", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12933818", "evidence": [ { "id": "rs3389449153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389449153" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "820", "end_pos": "820", "site_lbl": "Ala820", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12933795", "evidence": [ { "id": "rs3407075844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407075844" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "827", "end_pos": "827", "site_lbl": "Tyr827", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of 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"evidence": [ { "database": "UniProtKB", "id": "Q8BGT6", "url": "https://www.uniprot.org/uniprotkb/Q8BGT6" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT6", "url": "https://www.uniprot.org/uniprotkb/Q8BGT6" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT6", "url": "https://www.uniprot.org/uniprotkb/Q8BGT6" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT6", "url": "https://www.uniprot.org/uniprotkb/Q8BGT6" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": 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The most common type of familial ALS.", "url": "https://disease-ontology.org/term/DOID:0060193", "evidence": [ { "id": "0060193", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060193" } ], "weight": 0.0 }, { "disease_id": "DOID:0110180", "name": "Charcot-Marie-Tooth disease axonal type 2CC", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.", "url": "https://disease-ontology.org/term/DOID:0110180", "evidence": [ { "id": "0110180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110180" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). 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receptor binding", "id": "GO:0042975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042975", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "nuclear thyroid hormone receptor binding", "id": "GO:0046966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046966", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "histone acetyltransferase binding", "id": "GO:0035035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035035", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], 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"Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "mammary gland branching involved in pregnancy", "id": "GO:0060745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060745", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "regulation of RNA biosynthetic process", "id": "GO:2001141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001141", "evidence": 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"id": "GO:0033148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033148", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "cellular response to steroid hormone stimulus", "id": "GO:0071383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071383", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035357", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "mammary gland branching involved in thelarche", "id": "GO:0060744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060744", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in mammary gland duct elongation", "id": "GO:0060750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060750", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "cellular response to thyroid hormone stimulus", "id": "GO:0097067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097067", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "thyroid hormone generation", "id": "GO:0006590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006590", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "positive regulation of G0 to G1 transition", "id": "GO:0070318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070318", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "cellular response to hepatocyte growth factor stimulus", "id": "GO:0035729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035729", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q925J9", "url": "https://www.uniprot.org/uniprotkb/Q925J9" } ], "pmid": "" }, { "name": "nuclear receptor-mediated steroid hormone signaling pathway", "id": "GO:0030518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030518", "evidence": [ { 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"axonemal A tubule inner sheath", "id": "GO:0160111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160111", "evidence": [ { "database": "UniProtKB", "id": "G5E8A8", "url": "https://www.uniprot.org/uniprotkb/G5E8A8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G5E8A8-1" }, { "uniprot_canonical_ac": "P70323-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 479, "chemical_mass": 51668.0, "gene_names": "Tbx1;Tbx1;nmf219", "protein_name": "T-box transcription factor TBX1", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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"name": "mesenchymal cell apoptotic process", "id": "GO:0097152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097152", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "regulation of animal organ morphogenesis", "id": "GO:2000027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000027", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "enamel mineralization", "id": "GO:0070166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070166", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "muscle organ morphogenesis", "id": "GO:0048644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048644", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "negative regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046426", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "cellular response to fibroblast growth factor stimulus", "id": "GO:0044344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044344", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "soft palate development", "id": "GO:0060023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060023", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "vagus nerve morphogenesis", "id": "GO:0021644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021644", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of cell cycle G1/S phase transition", "id": "GO:1902808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902808", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "lymph vessel development", "id": "GO:0001945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001945", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": 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"105", "end_pos": "105", "site_lbl": "Asn105", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVSSILGFDSNQLPANAPIEDRR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 105, "start_aa": "Asn", "end_pos": 105, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn105", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] } ], "record_id": "Q3UV70-1" }, { "uniprot_canonical_ac": "P52430-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P52430", "url": "https://www.uniprot.org/uniprotkb/P52430" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 355, "chemical_mass": 39565.0, "gene_names": "Pon1;Pon1;Pon", "protein_name": "Serum paraoxonase/arylesterase 1", "disease": [ { "disease_id": "DOID:0050731", "name": "vitamin B12 deficiency", "description": "A vitamin metabolic disorder that results from low blood levels of vitamin B12.", "url": "https://disease-ontology.org/term/DOID:0050731", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ], "weight": 0.0 }, { "disease_id": "DOID:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.", "url": "https://disease-ontology.org/term/DOID:0060060", "evidence": [ { "id": "0060060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060060" } ], "weight": 0.0 }, { "disease_id": "DOID:0060669", "name": "cerebral cavernous malformation", "description": "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.", "url": "https://disease-ontology.org/term/DOID:0060669", "evidence": [ { "id": "0060669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060669" } ], "weight": 0.0 }, { "disease_id": "DOID:0080001", "name": "bone disease", "description": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.", "url": "https://disease-ontology.org/term/DOID:0080001", "evidence": [ { "id": "0080001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080001" } ], "weight": 0.0 }, { "disease_id": "DOID:0080771", "name": "beta-thalassemia major", "description": "A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age.", "url": "https://disease-ontology.org/term/DOID:0080771", "evidence": [ { "id": "0080771", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080771" } ], "weight": 0.0 }, { "disease_id": "DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.", "url": "https://disease-ontology.org/term/DOID:10126", "evidence": [ { "id": "10126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10126" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:1040", "name": "chronic lymphocytic leukemia", "description": "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:1040", "evidence": [ { "id": "1040", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1040" } ], "weight": 0.0 }, { "disease_id": "DOID:10603", "name": "glucose intolerance", "description": "", "url": "https://disease-ontology.org/term/DOID:10603", "evidence": [ { "id": "10603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ], "weight": 0.0 }, { "disease_id": "DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 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"id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:14400", "name": "capillary leak syndrome", "description": "A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:14400", "evidence": [ { "id": "14400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14400" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is 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blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2388", "name": "renal artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:2388", "evidence": [ { "id": "2388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2388" } ], "weight": 0.0 }, { "disease_id": "DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:61", "name": "mitral valve disease", "description": "", "url": "https://disease-ontology.org/term/DOID:61", "evidence": [ { "id": "61", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:61" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8736", "name": "smallpox", "description": "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk.", "url": "https://disease-ontology.org/term/DOID:8736", "evidence": [ { "id": "8736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8736" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:916", "name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9406", "name": "hypopituitarism", "description": "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.", "url": "https://disease-ontology.org/term/DOID:9406", "evidence": [ { "id": "9406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9406" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9663", "name": "aphthous stomatitis", "description": "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.", "url": "https://disease-ontology.org/term/DOID:9663", "evidence": [ { "id": "9663", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9663" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes 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[10090]" } ], "length": 131, "chemical_mass": 15283.0, "gene_names": "Ndufa6;14kDa;2700038D15Rik;B230217P19Rik;Ndufa6", "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6", "disease": [ { "disease_id": "DOID:0112097", "name": "nuclear type mitochondrial complex I deficiency 33", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2.", "url": "https://disease-ontology.org/term/DOID:0112097", "evidence": [ { "id": "0112097", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112097" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood 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], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "Q9CQZ5", "url": "https://www.uniprot.org/uniprotkb/Q9CQZ5" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "Q9CQZ5", "url": "https://www.uniprot.org/uniprotkb/Q9CQZ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQZ5-1" }, { "uniprot_canonical_ac": "P61965-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 334, "chemical_mass": 36588.0, "gene_names": "Wdr5;2410008O07Rik;Big-3;Big3;Big;Wdr5", 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"regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "peptidyl-lysine methylation", "id": "GO:0018022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018022", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "regulation of cell division", "id": "GO:0051302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051302", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "MLL3/4 complex", "id": "GO:0044666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044666", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "Set1C/COMPASS complex", "id": "GO:0048188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048188", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "MLL1 complex", "id": "GO:0071339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071339", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "histone acetyltransferase complex", "id": "GO:0000123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000123", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "NSL complex", "id": "GO:0044545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044545", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "MLL1/2 complex", "id": "GO:0044665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044665", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "ATAC complex", "id": "GO:0140672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140672", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "histone H3K4 methyltransferase activity", "id": "GO:0042800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042800", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "histone H3Q5ser reader activity", "id": "GO:0140004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140004", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "histone H3K4me1 reader activity", "id": "GO:0140109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140109", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P61965-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Thr18", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 18, "start_aa": "Thr", "end_pos": 18, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr18", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "P61965-1" }, { "uniprot_canonical_ac": "Q9WTY1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 482, "chemical_mass": 54357.0, "gene_names": "Pdcd7", "protein_name": "Programmed cell death protein 7", "disease": [], "cellular_component": [ { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "U11/U12 snRNP", "id": "GO:0034693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034693", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "U12-type spliceosomal complex", "id": "GO:0005689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005689", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "U2AF complex", "id": "GO:0089701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0089701", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "U12-type precatalytic spliceosome", "id": "GO:0071016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071016", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" } ], "biological_process": [ { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "positive regulation of T cell apoptotic process", "id": "GO:0070234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070234", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9WTY1-1" }, { "uniprot_canonical_ac": "P63015-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 422, "chemical_mass": 46683.0, "gene_names": "Pax6;1500038E17Rik;AEY11;Dey;Gsfaey11;Pax-6;Pax6;Sey", "protein_name": "Paired box protein Pax-6", "disease": [ { "disease_id": "DOID:0060673", "name": "Peters anomaly", "description": "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.", "url": "https://disease-ontology.org/term/DOID:0060673", "evidence": [ { "id": "0060673", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060673" } ], "weight": 0.0 }, { "disease_id": "DOID:0070530", "name": "foveal hypoplasia 1", "description": "A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:0070530", "evidence": [ { "id": "0070530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070530" } ], "weight": 0.0 }, { "disease_id": "DOID:0070532", "name": "aniridia 1", "description": "An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common.", "url": "https://disease-ontology.org/term/DOID:0070532", "evidence": [ { "id": "0070532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070532" } ], "weight": 0.0 }, { "disease_id": "DOID:0080610", "name": "anterior segment dysgenesis 5", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:0080610", "evidence": [ { "id": "0080610", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080610" } ], "weight": 0.0 }, { "disease_id": "DOID:0110233", "name": "cataract 27", "description": "A cataract that has_material_basis_in mutation in the region 2p12.", "url": "https://disease-ontology.org/term/DOID:0110233", "evidence": [ { "id": "0110233", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110233" } ], "weight": 0.0 }, { "disease_id": "DOID:0111383", "name": "autosomal dominant keratitis", "description": "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:0111383", "evidence": [ { "id": "0111383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111383" } ], "weight": 0.0 }, { "disease_id": "DOID:0111531", "name": "bilateral optic nerve hypoplasia", "description": "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:0111531", "evidence": [ { "id": "0111531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111531" } ], "weight": 0.0 }, { "disease_id": "DOID:10603", "name": "glucose intolerance", "description": "", "url": "https://disease-ontology.org/term/DOID:10603", "evidence": [ { "id": "10603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ], "weight": 0.0 }, { "disease_id": "DOID:10629", "name": "microphthalmia", "description": "An eye disease where one or both eyeballs are abnormally small.", "url": "https://disease-ontology.org/term/DOID:10629", "evidence": [ { "id": "10629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10629" } ], "weight": 0.0 }, { "disease_id": "DOID:1068", "name": "juvenile glaucoma", "description": "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures.", "url": "https://disease-ontology.org/term/DOID:1068", "evidence": [ { "id": "1068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1068" } ], "weight": 0.0 }, { "disease_id": "DOID:11975", "name": "coloboma of optic nerve", "description": "", "url": "https://disease-ontology.org/term/DOID:11975", "evidence": [ { "id": "11975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11975" } ], "weight": 0.0 }, { "disease_id": "DOID:12271", "name": "aniridia", "description": "An iris disease that is characterized by a complete or partial absence of the colored part of the eye.", "url": "https://disease-ontology.org/term/DOID:12271", "evidence": [ { "id": "12271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12271" } ], "weight": 0.0 }, { "disease_id": "DOID:1229", "name": "paranoid schizophrenia", "description": "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.", "url": "https://disease-ontology.org/term/DOID:1229", "evidence": [ { "id": "1229", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1229" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:14515", "name": "WAGR syndrome", "description": "A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.", "url": "https://disease-ontology.org/term/DOID:14515", "evidence": [ { "id": "14515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14515" } ], "weight": 0.0 }, { "disease_id": "DOID:14692", "name": "Smith-Lemli-Opitz syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:14692", "evidence": [ { "id": "14692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14692" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9649", "name": "congenital nystagmus", "description": "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.", "url": "https://disease-ontology.org/term/DOID:9649", "evidence": [ { "id": "9649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9649" } ], "weight": 0.0 } ], "biological_process": [ { "name": "olfactory bulb mitral cell layer development", "id": "GO:0061034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061034", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "pancreatic A cell development", "id": "GO:0003322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003322", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "regulation of asymmetric cell division", "id": "GO:0009786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009786", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "forebrain-midbrain boundary formation", "id": "GO:0021905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021905", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "astrocyte differentiation", "id": "GO:0048708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048708", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "insulin metabolic process", "id": "GO:1901142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901142", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell differentiation", "id": "GO:0030858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030858", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "rhombomere morphogenesis", "id": "GO:0021593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021593", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "learned vocalization behavior or vocal learning", "id": "GO:0098598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098598", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "positive regulation of glutamatergic neuron differentiation", "id": "GO:0120008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120008", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "sensory neuron migration", "id": "GO:1904937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904937", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "cerebral cortex regionalization", "id": "GO:0021796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021796", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "commitment of neuronal cell to specific neuron type in forebrain", "id": "GO:0021902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021902", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "pmid": "" }, { "name": "cell 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}, { "name": "regulation of gluconeogenesis", "id": "GO:0006111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006111", "evidence": [ { "database": "UniProtKB", "id": "Q924A0", "url": "https://www.uniprot.org/uniprotkb/Q924A0" } ], "pmid": "" }, { "name": "positive regulation of triglyceride biosynthetic process", "id": "GO:0010867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010867", "evidence": [ { "database": "UniProtKB", "id": "Q924A0", "url": "https://www.uniprot.org/uniprotkb/Q924A0" } ], "pmid": "" }, { "name": "positive regulation of heparan sulfate proteoglycan biosynthetic process", "id": "GO:0010909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010909", "evidence": [ { "database": "UniProtKB", "id": "Q924A0", "url": "https://www.uniprot.org/uniprotkb/Q924A0" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "Q924A0", "url": "https://www.uniprot.org/uniprotkb/Q924A0" } ], "pmid": "" }, { "name": "regulation of hormone metabolic process", "id": "GO:0032350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032350", "evidence": [ { "database": "UniProtKB", "id": "Q924A0", "url": "https://www.uniprot.org/uniprotkb/Q924A0" } ], "pmid": "" }, { "name": "embryonic genitalia morphogenesis", "id": "GO:0030538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030538", "evidence": [ { "database": "UniProtKB", "id": "Q924A0", "url": "https://www.uniprot.org/uniprotkb/Q924A0" } ], "pmid": "" }, { "name": "embryonic digestive tract morphogenesis", "id": "GO:0048557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048557", "evidence": [ { "database": "UniProtKB", "id": "Q924A0", "url": "https://www.uniprot.org/uniprotkb/Q924A0" } ], "pmid": "" }, { "name": "negative regulation of type B pancreatic cell apoptotic process", "id": "GO:2000675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000675", "evidence": [ { "database": "UniProtKB", "id": "Q924A0", "url": "https://www.uniprot.org/uniprotkb/Q924A0" } ], "pmid": "" }, { "name": "regulation of skeletal muscle tissue development", "id": "GO:0048641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048641", "evidence": [ { "database": "UniProtKB", "id": "Q924A0", "url": "https://www.uniprot.org/uniprotkb/Q924A0" } ], "pmid": "" }, { "name": "secretory granule localization", "id": "GO:0032252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032252", "evidence": [ { "database": "UniProtKB", "id": "Q924A0", "url": "https://www.uniprot.org/uniprotkb/Q924A0" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q924A0", "url": "https://www.uniprot.org/uniprotkb/Q924A0" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { 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}, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA3", "url": "https://www.uniprot.org/uniprotkb/Q9WUA3" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Tyr650", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA3", "url": "https://www.uniprot.org/uniprotkb/Q9WUA3" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "PRO", "id": "Q9WUA3", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9WUA3" }, { "database": "iPTMnet", "id": "Q9WUA3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WUA3" } ] } ], "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6636587", "evidence": [ { "id": "rs3402466721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402466721" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUA3", "url": "https://www.uniprot.org/uniprotkb/Q9WUA3" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Thr557", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (TIT->NIT); glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6647905", "evidence": [ { "id": "rs3389268442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268442" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Cys111", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6672062", "evidence": [ { "id": "rs3389268935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268935" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Ile124", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6672022", "evidence": [ { "id": "rs3389268968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268968" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Asn155", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6671075", "evidence": [ { "id": "rs3389263118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389263118" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Asp156", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6671071", "evidence": [ { "id": "rs3389241816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389241816" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Leu164", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6671049", "evidence": [ { "id": "rs3389253382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389253382" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Gly185", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6670985", "evidence": [ { "id": "rs3389253372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389253372" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Phe211", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6669586", "evidence": [ { "id": "rs3402466684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402466684" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Thr230", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6669294", "evidence": [ { "id": "rs256845923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256845923" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Met251", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6669229", "evidence": [ { "id": "rs3389268464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268464" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Arg261", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6664825", "evidence": [ { "id": "rs51489412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51489412" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Thr283", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6664760", "evidence": [ { "id": "rs3389267389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389267389" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Val292", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6655758", "evidence": [ { "id": "rs47276771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47276771" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Lys293", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "SDG*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6655754_6655755insCCACACTACCTCAACCAT", "evidence": [ { "id": "rs3389234936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389234936" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Asn294", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6655752", "evidence": [ { "id": "rs3389268406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268406" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6655751", "evidence": [ { "id": "rs3389265658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389265658" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Val329", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6655093", "evidence": [ { "id": "rs3389199163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389199163" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Asn389", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6653171", "evidence": [ { "id": "rs3389241881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389241881" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Lys407", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6653117", "evidence": [ { "id": "rs3389268480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268480" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Arg429", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6652831", "evidence": [ { "id": "rs3389276453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276453" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Met442", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6652791", "evidence": [ { "id": "rs3389268485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268485" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Gly455", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6652753", "evidence": [ { "id": "rs3403961727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3403961727" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Lys458", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6650697", "evidence": [ { "id": "rs3389269097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269097" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Ala463", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6650684", "evidence": [ { "id": "rs3389227226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227226" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Pro483", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6648854", "evidence": [ { "id": "rs3389268481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268481" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Leu487", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6648842", "evidence": [ { "id": "rs3389261004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389261004" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ile50", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6685996", "evidence": [ { "id": "rs13468690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13468690" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Ala520", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6648017", "evidence": [ { "id": "rs3389253375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389253375" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Gln567", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6638669", "evidence": [ { "id": "rs3389277581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389277581" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Arg574", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6638650", "evidence": [ { "id": "rs3389269115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269115" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "594", "end_pos": "594", "site_lbl": "Ala594", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6638589", "evidence": [ { "id": "rs248672729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248672729" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Leu614", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6638528", "evidence": [ { "id": "rs3389282216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389282216" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Glu623", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6637128", "evidence": [ { "id": "rs3389267430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389267430" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Met625", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6637121", "evidence": [ { "id": "rs3389268946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268946" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Gln64", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6675243", "evidence": [ { "id": "rs3389268428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268428" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Lys691", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"evidence": [ { "id": "rs3389199154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389199154" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "777", "end_pos": "777", "site_lbl": "Ser777", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6631522", "evidence": [ { "id": "rs50673719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50673719" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "782", "end_pos": "782", "site_lbl": "Glu782", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6631506", "evidence": [ { "id": 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that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.", "url": "https://disease-ontology.org/term/DOID:0110033", "evidence": [ { "id": "0110033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ], "weight": 0.0 }, { "disease_id": "DOID:0111559", "name": "Charcot-Marie-Tooth disease type 2EE", "description": "A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3.", "url": "https://disease-ontology.org/term/DOID:0111559", "evidence": [ { "id": "0111559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111559" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:700", "name": "mitochondrial metabolism disease", "description": "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.", "url": "https://disease-ontology.org/term/DOID:700", "evidence": [ { "id": "700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:700" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P19258", "url": "https://www.uniprot.org/uniprotkb/P19258" } ], "pmid": "" }, { "name": 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"GO:1901858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901858", "evidence": [ { "database": "UniProtKB", "id": "P19258", "url": "https://www.uniprot.org/uniprotkb/P19258" } ], "pmid": "" }, { "name": "glomerular basement membrane development", "id": "GO:0032836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032836", "evidence": [ { "database": "UniProtKB", "id": "P19258", "url": "https://www.uniprot.org/uniprotkb/P19258" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P19258-1" }, { "uniprot_canonical_ac": "P57724-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P57724", "url": "https://www.uniprot.org/uniprotkb/P57724" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 403, "chemical_mass": 41399.0, "gene_names": "Pcbp4;1200003L19Rik;AlphaCP-4;Pcbp4", "protein_name": "Poly(rC)-binding protein 4", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P57724", "url": "https://www.uniprot.org/uniprotkb/P57724" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P57724", "url": "https://www.uniprot.org/uniprotkb/P57724" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "P57724", "url": "https://www.uniprot.org/uniprotkb/P57724" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P57724", "url": "https://www.uniprot.org/uniprotkb/P57724" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P57724", "url": "https://www.uniprot.org/uniprotkb/P57724" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "P57724", "url": "https://www.uniprot.org/uniprotkb/P57724" } ], "pmid": "" }, { "name": "negative regulation of mRNA splicing, via spliceosome", "id": "GO:0048025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048025", "evidence": [ { "database": "UniProtKB", "id": "P57724", "url": "https://www.uniprot.org/uniprotkb/P57724" } ], "pmid": "" }, { "name": "negative regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043518", "evidence": [ { "database": "UniProtKB", "id": "P57724", "url": "https://www.uniprot.org/uniprotkb/P57724" } ], "pmid": "" }, { "name": 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"database": "UniProtKB", "id": "Q9JMH3", "url": "https://www.uniprot.org/uniprotkb/Q9JMH3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 379, "chemical_mass": 42403.0, "gene_names": "Neu2;MBS;MSS;MTS;Neu2", "protein_name": "Sialidase-2", "disease": [], "biological_process": [ { "name": "positive regulation of myotube differentiation", "id": "GO:0010831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010831", "evidence": [ { "database": "UniProtKB", "id": "Q9JMH3", "url": "https://www.uniprot.org/uniprotkb/Q9JMH3" } ], "pmid": "" }, { "name": "ganglioside catabolic process", "id": "GO:0006689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006689", "evidence": [ { "database": "UniProtKB", "id": "Q9JMH3", "url": "https://www.uniprot.org/uniprotkb/Q9JMH3" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ 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"start_pos": "115", "end_pos": "115", "site_lbl": "Ala115", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "5", "chr_pos": "64258359", "evidence": [ { "id": "rs3507780817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507780817" } ] } ] }, { "uniprot_canonical_ac": "Q7TSV4-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ile149", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "5", "chr_pos": "64260262", "evidence": [ { "id": "rs3388755036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388755036" } ] } ] }, { "uniprot_canonical_ac": "Q7TSV4-1", "start_pos": 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0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "5", "chr_pos": "64265113", "evidence": [ { "id": "rs3388768272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388768272" } ] } ] }, { "uniprot_canonical_ac": "Q7TSV4-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Glu41", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "5", "chr_pos": "64254337", "evidence": [ { "id": "rs3388744386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388744386" } ] } ] }, { "uniprot_canonical_ac": "Q7TSV4-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Asp422", "weight": 0.0, "snv": [ { 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"comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "5", "chr_pos": "64269535_64269536insTTTCAAACTTGCCACACATTTTGGGATAATTATTCTTCCCGTCATAGTTTCTCAGGTTTCCAAATAAGTTTTGAATTGTGCCCTGATCATGGCAGATAAAAT", "evidence": [ { "id": "rs3395618318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395618318" } ] } ] }, { "uniprot_canonical_ac": "Q7TSV4-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Thr554", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "5", "chr_pos": "64273677", "evidence": [ { "id": "rs3388733962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388733962" } ] } ] }, { "uniprot_canonical_ac": "Q7TSV4-1", "start_pos": "56", "end_pos": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0035999", "evidence": [ { "database": "UniProtKB", "id": "Q9D110", "url": "https://www.uniprot.org/uniprotkb/Q9D110" } ], "pmid": "" }, { "name": "tetrahydrofolate metabolic process", "id": "GO:0046653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046653", "evidence": [ { "database": "UniProtKB", "id": "Q9D110", "url": "https://www.uniprot.org/uniprotkb/Q9D110" } ], "pmid": "" }, { "name": "folic acid-containing compound biosynthetic process", "id": "GO:0009396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009396", "evidence": [ { "database": "UniProtKB", "id": "Q9D110", "url": "https://www.uniprot.org/uniprotkb/Q9D110" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D110-1" }, { "uniprot_canonical_ac": "P33434-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "common_name": 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outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:0111563", "name": "Sturge-Weber syndrome", "description": "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.", "url": "https://disease-ontology.org/term/DOID:0111563", "evidence": [ { "id": "0111563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111563" } ], "weight": 0.0 }, { "disease_id": "DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.", "url": 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"description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly.", "url": "https://disease-ontology.org/term/DOID:11830", "evidence": [ { "id": "11830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { 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cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:255", "name": "hemangioma", "description": "A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood.", "url": "https://disease-ontology.org/term/DOID:255", "evidence": [ { "id": "255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:255" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. 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"https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], 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"disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6195", "name": "conjunctivitis", "description": "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.", "url": "https://disease-ontology.org/term/DOID:6195", "evidence": [ { "id": "6195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6195" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8553", "name": "pyoderma gangrenosum", "description": "", "url": "https://disease-ontology.org/term/DOID:8553", "evidence": [ { "id": "8553", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8553" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in 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"database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "blood vessel maturation", "id": "GO:0001955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001955", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "peripheral nervous system axon regeneration", "id": "GO:0014012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014012", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": 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"P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "collagen catabolic process", "id": "GO:0030574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "bone trabecula formation", "id": "GO:0060346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060346", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "parturition", "id": "GO:0007567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007567", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240449085" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Pro146", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455127", "evidence": [ { "id": "rs3389079176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389079176" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Pro16", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107454263", "evidence": [ { "id": "rs13459416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13459416" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Asp170", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455199", "evidence": [ { "id": "rs3389073810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389073810" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Gln177", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455220", "evidence": [ { "id": "rs3389072485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389072485" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Val183", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455239", "evidence": [ { "id": "rs3389070915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389070915" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Gln184", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455241", "evidence": [ { "id": "rs3389066723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389066723" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Glu186", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455248", "evidence": [ { "id": "rs3389073789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389073789" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Ala197", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455280", "evidence": [ { "id": "rs3389045814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389045814" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Phe203", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455298", "evidence": [ { "id": "rs3389069338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389069338" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ala206", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455307", "evidence": [ { "id": "rs3389073802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389073802" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Trp210", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455319", "evidence": [ { "id": "rs13459417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13459417" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ala212", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455325", "evidence": [ { "id": "rs3389071126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071126" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Val220", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455349", "evidence": [ { "id": "rs3389050750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050750" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ser22", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107454756", "evidence": [ { "id": "rs3389072519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389072519" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Cys235", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455394", "evidence": [ { "id": "rs3389080106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389080106" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Tyr236", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455397", "evidence": [ { "id": "rs3389075653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389075653" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Asn237", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455401", "evidence": [ { "id": "rs3389016530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389016530" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Phe252", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455446", "evidence": [ { "id": "rs259847055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259847055" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ala269", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455496", "evidence": [ { "id": "rs3389066687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389066687" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Glu284", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455542", "evidence": [ { "id": "rs30520537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30520537" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Arg293", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455568", "evidence": [ { "id": "rs3389079192", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389079192" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Thr29", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107454777", "evidence": [ { "id": "rs257357711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257357711" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Tyr319", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455648", "evidence": [ { "id": "rs3389045813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389045813" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Met321", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455653", "evidence": [ { "id": "rs243223430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243223430" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Glu329", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456301", "evidence": [ { "id": "rs3389058734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389058734" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Glu332", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456090", "evidence": [ { "id": "rs3400106225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400106225" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Ser338", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456108", "evidence": [ { "id": "rs3400106253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400106253" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Glu359", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456301", "evidence": [ { "id": "rs3389058734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389058734" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Arg35", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107454794", "evidence": [ { "id": "rs3547512139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547512139" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ala366", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456320", "evidence": [ { "id": "rs3389016542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389016542" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Ala383", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456371", "evidence": [ { "id": "rs3389045820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389045820" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456371", "evidence": [ { "id": "rs3389045820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389045820" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Leu384", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456374", "evidence": [ { "id": "rs3389072484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389072484" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Gly393", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456491", "evidence": [ { "id": "rs3389073740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389073740" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Cys397", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456415", "evidence": [ { "id": "rs3389069371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389069371" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Gly423", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456491", "evidence": [ { "id": "rs3389073740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389073740" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ser427", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456504", "evidence": [ { "id": "rs240358988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240358988" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ala438", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456536", "evidence": [ { "id": "rs3389038343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389038343" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Arg445", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456558", "evidence": [ { "id": "rs259808614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259808614" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Cys446", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456560", "evidence": [ { "id": "rs33273575", 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"https://www.uniprot.org/uniprotkb/Q8BGI5" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8BGI5", "url": "https://www.uniprot.org/uniprotkb/Q8BGI5" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q8BGI5", "url": "https://www.uniprot.org/uniprotkb/Q8BGI5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BGI5-1" }, { "uniprot_canonical_ac": "P97298-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 417, "chemical_mass": 46234.0, "gene_names": "Serpinf1;EPC-1;Pedfl;Pedf;Sdf3;Serpinf1", "protein_name": "Pigment epithelium-derived factor", "disease": [ { "disease_id": "DOID:0050831", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "url": "https://disease-ontology.org/term/DOID:0050831", "evidence": [ { "id": "0050831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0110350", "name": "osteogenesis imperfecta type 6", "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3.", "url": "https://disease-ontology.org/term/DOID:0110350", "evidence": [ { "id": "0110350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110350" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11382", "name": "corneal neovascularization", "description": "", "url": "https://disease-ontology.org/term/DOID:11382", "evidence": [ { "id": "11382", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11382" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12986", "name": "leukostasis", "description": "", "url": "https://disease-ontology.org/term/DOID:12986", "evidence": [ { "id": "12986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12986" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13514", "name": "venous tributary occlusion of retina", "description": "", "url": "https://disease-ontology.org/term/DOID:13514", "evidence": [ { "id": "13514", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13514" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.", "url": "https://disease-ontology.org/term/DOID:5425", "evidence": [ { "id": "5425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.", "url": "https://disease-ontology.org/term/DOID:768", "evidence": [ { "id": "768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:768" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060770", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "response to arsenic-containing substance", "id": "GO:0046685", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "protein localization to centrosome", "id": "GO:0071539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071539", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "mitotic sister chromatid segregation", "id": "GO:0000070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000070", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "protein localization to chromatin", "id": "GO:0071168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071168", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "centrosome separation", "id": "GO:0051299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051299", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "astral microtubule organization", "id": "GO:0030953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030953", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "synaptonemal complex disassembly", "id": "GO:0070194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070194", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "regulation of protein localization to cell cortex", "id": "GO:1904776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904776", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "positive regulation of mitotic nuclear envelope disassembly", "id": "GO:1905559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905559", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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] } ], "record_id": "Q91VC3-1" }, { "uniprot_canonical_ac": "Q921L7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q921L7", "url": "https://www.uniprot.org/uniprotkb/Q921L7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 340, "chemical_mass": 38233.0, "gene_names": "Hemk1;2310008M14Rik;Hemk1", "protein_name": "MTRF1L release factor glutamine methyltransferase", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q921L7", "url": "https://www.uniprot.org/uniprotkb/Q921L7" } ], "pmid": "" } ], "biological_process": [ { "name": "translational termination", "id": "GO:0006415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006415", "evidence": [ { "database": "UniProtKB", "id": "Q921L7", "url": 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that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.", "url": "https://disease-ontology.org/term/DOID:0060025", "evidence": [ { "id": "0060025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060025" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0081144", "name": "common variable immunodeficiency 1", "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33.", "url": "https://disease-ontology.org/term/DOID:0081144", "evidence": [ { "id": "0081144", "database": "AGR", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q99J93" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "Q99J93", "url": "https://www.uniprot.org/uniprotkb/Q99J93" } ], "pmid": "" }, { "name": "response to interferon-alpha", "id": "GO:0035455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035455", "evidence": [ { "database": "UniProtKB", "id": "Q99J93", "url": "https://www.uniprot.org/uniprotkb/Q99J93" } ], "pmid": "" }, { "name": "response to interferon-beta", "id": "GO:0035456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035456", "evidence": [ { "database": "UniProtKB", "id": "Q99J93", "url": "https://www.uniprot.org/uniprotkb/Q99J93" } ], "pmid": "" }, { "name": "host-mediated suppression of symbiont invasion", "id": "GO:0046597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "Q99J93", "url": "https://www.uniprot.org/uniprotkb/Q99J93" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99J93-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Tyr19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99J93", "url": "https://www.uniprot.org/uniprotkb/Q99J93" } ] } ] } ], "record_id": "Q99J93-1" }, { "uniprot_canonical_ac": "Q99JY6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99JY6", "url": "https://www.uniprot.org/uniprotkb/Q99JY6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 98, "chemical_mass": 10940.0, "gene_names": "Higd1b;2310056K19Rik;Higd1b", "protein_name": "HIG1 domain family member 1B", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99JY6", "url": "https://www.uniprot.org/uniprotkb/Q99JY6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99JY6", "url": "https://www.uniprot.org/uniprotkb/Q99JY6" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial respirasome assembly", "id": "GO:0097250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097250", "evidence": [ { "database": "UniProtKB", "id": "Q99JY6", "url": "https://www.uniprot.org/uniprotkb/Q99JY6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99JY6-1" }, { "uniprot_canonical_ac": "Q9CQJ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQJ1", "url": "https://www.uniprot.org/uniprotkb/Q9CQJ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 106, "chemical_mass": 11368.0, "gene_names": "Higd2a;2010110M21Rik;Higd2a", "protein_name": "HIG1 domain family member 2A", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CQJ1", "url": "https://www.uniprot.org/uniprotkb/Q9CQJ1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CQJ1", "url": "https://www.uniprot.org/uniprotkb/Q9CQJ1" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CQJ1", "url": "https://www.uniprot.org/uniprotkb/Q9CQJ1" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9CQJ1", "url": "https://www.uniprot.org/uniprotkb/Q9CQJ1" } ], "pmid": "" }, { "name": "response to quercetin", "id": "GO:1905235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905235", "evidence": [ { "database": "UniProtKB", "id": "Q9CQJ1", "url": "https://www.uniprot.org/uniprotkb/Q9CQJ1" } ], "pmid": "" }, { "name": "mitochondrial respirasome assembly", "id": "GO:0097250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097250", "evidence": [ { "database": "UniProtKB", "id": "Q9CQJ1", "url": "https://www.uniprot.org/uniprotkb/Q9CQJ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQJ1-1" }, { "uniprot_canonical_ac": "Q9CQW9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 137, "chemical_mass": 14954.0, "gene_names": "Ifitm3;1110004C05Rik;Cd225;Cdw217;DSPA2b;Fgls;IP15;Ifitm3;mil-1", "protein_name": "Interferon-induced transmembrane protein 3", "disease": [ { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of viral transcription", "id": "GO:0032897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032897", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "negative regulation of viral genome replication", "id": "GO:0045071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045071", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "type I interferon-mediated signaling pathway", "id": "GO:0060337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060337", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "response to interferon-alpha", "id": "GO:0035455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035455", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "response to interferon-beta", "id": "GO:0035456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035456", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "host-mediated suppression of symbiont invasion", "id": "GO:0046597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQW9-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Tyr20", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" }, { "database": "iPTMnet", "id": "Q9CQW9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQW9" }, { "database": "PubMed", "id": "24627473", "url": 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No effect on anti-SARS-CoV-2 activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" }, { "database": "PubMed", "id": "33270927", "url": "https://glygen.org/publication/PubMed/33270927" } ] } ] }, { "uniprot_canonical_ac": "Q9CQW9-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Tyr27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9CQW9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQW9" } ] } ] }, { "uniprot_canonical_ac": "Q9CQW9-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Cys105", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on SARS-CoV-2 infection; when associated with 71-A-A-72.", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" }, { "database": "PubMed", "id": "33270927", "url": "https://glygen.org/publication/PubMed/33270927" } ] } ] } ], "record_id": "Q9CQW9-1" }, { "uniprot_canonical_ac": "Q9CR04-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 117, "chemical_mass": 13492.0, "gene_names": "H2ap;1700054O13Rik;H2al3;H2ap;Hypm", "protein_name": "Huntingtin-interacting protein M", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "pmid": "" } ], 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"url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "glomerulus development", "id": "GO:0032835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032835", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "proximal tubule development", "id": "GO:0072014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072014", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:0003198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003198", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "mesenchymal cell development", "id": "GO:0014031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014031", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": 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"name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DBX7-1" }, { "uniprot_canonical_ac": "Q9QUS4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 339, "chemical_mass": 35873.0, "gene_names": "Hey2;CHF1;Chf1;Herp1;Herp;Hesr2;Hey2;Hrt2;bHLHb32;hesr2", "protein_name": "Hairy/enhancer-of-split related with YRPW motif protein 2", "disease": [ { "disease_id": "DOID:264", "name": "hemangiopericytoma", "description": "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in 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"https://disease-ontology.org/term/DOID:799", "evidence": [ { "id": "799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:799" } ], "weight": 0.0 } ], "biological_process": [ { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "atrioventricular valve development", "id": "GO:0003171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003171", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cardiac ventricle morphogenesis", "id": "GO:0003208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003208", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "tricuspid valve formation", "id": "GO:0003195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003195", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy", "id": "GO:0003300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003300", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "dorsal aorta morphogenesis", "id": "GO:0035912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035912", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell differentiation", "id": "GO:0051151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051151", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "heart trabecula formation", "id": "GO:0060347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060347", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "labyrinthine layer blood vessel development", "id": "GO:0060716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060716", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "ventricular cardiac muscle cell development", "id": "GO:0055015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055015", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "pulmonary artery morphogenesis", "id": "GO:0061156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061156", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "anterior/posterior axis specification", "id": "GO:0009948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009948", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "endocardial cushion to mesenchymal transition involved in heart valve formation", "id": "GO:0003199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003199", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "mesenchymal cell development", "id": "GO:0014031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014031", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cardiac septum morphogenesis", "id": "GO:0060411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "tricuspid valve morphogenesis", "id": "GO:0003186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003186", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cardiac right ventricle morphogenesis", "id": "GO:0003215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003215", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "atrial septum morphogenesis", "id": "GO:0060413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060413", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cardiac left ventricle morphogenesis", "id": "GO:0003214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003214", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of transcription initiation by RNA polymerase II", "id": "GO:0060633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060633", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of biomineral tissue development", "id": "GO:0070168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070168", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "muscular septum morphogenesis", "id": "GO:0003150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003150", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "regulation of vasculogenesis", "id": "GO:2001212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001212", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "ascending aorta morphogenesis", "id": "GO:0035910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035910", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "umbilical cord morphogenesis", "id": "GO:0036304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036304", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "regulation of inner ear auditory receptor cell differentiation", "id": "GO:0045607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045607", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "arterial endothelial cell differentiation", "id": "GO:0060842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060842", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cardiac vascular smooth muscle cell development", "id": "GO:0060948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060948", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "coronary vasculature morphogenesis", "id": "GO:0060977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060977", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "protein-DNA complex assembly", "id": "GO:0065004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065004", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of cardiac vascular smooth muscle cell differentiation", "id": "GO:2000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000723", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9QUS4-1" }, { "uniprot_canonical_ac": "Q9QYL0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QYL0", "url": "https://www.uniprot.org/uniprotkb/Q9QYL0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 170, "chemical_mass": 19203.0, "gene_names": "H1-9;H1-9p;H1-9;H1.9;H1f9;Hils1;TISP64", "protein_name": "Histone H1.9", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { 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The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.", "url": "https://disease-ontology.org/term/DOID:0050784", "evidence": [ { "id": "0050784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050784" } ], "weight": 0.0 }, { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080176", "name": "meningococcal meningitis", "description": "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection.", "url": "https://disease-ontology.org/term/DOID:0080176", "evidence": [ { "id": "0080176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080176" } ], "weight": 0.0 }, { "disease_id": "DOID:0080177", "name": "hepatic veno-occlusive disease", "description": "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver.", "url": "https://disease-ontology.org/term/DOID:0080177", "evidence": [ { "id": "0080177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080177" } ], "weight": 0.0 }, { "disease_id": "DOID:0080207", "name": "congenital anomalies of the kidney and urinary tract 2", "description": "A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14.", "url": "https://disease-ontology.org/term/DOID:0080207", "evidence": [ { "id": "0080207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080207" } ], "weight": 0.0 }, { "disease_id": "DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body.", "url": "https://disease-ontology.org/term/DOID:0080745", "evidence": [ { "id": "0080745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080745" } ], "weight": 0.0 }, { "disease_id": "DOID:0080746", "name": "Sweet syndrome", "description": "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions.", "url": "https://disease-ontology.org/term/DOID:0080746", "evidence": [ { "id": "0080746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080746" } ], "weight": 0.0 }, { "disease_id": "DOID:0111563", "name": "Sturge-Weber syndrome", "description": "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.", "url": "https://disease-ontology.org/term/DOID:0111563", "evidence": [ { "id": "0111563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111563" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10588", "name": "adrenoleukodystrophy", "description": "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.", "url": "https://disease-ontology.org/term/DOID:10588", "evidence": [ { "id": "10588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10588" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11294", "name": "arteriovenous malformation", "description": "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.", "url": "https://disease-ontology.org/term/DOID:11294", "evidence": [ { "id": "11294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11294" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12510", "name": "retinal ischemia", "description": "An ischemia that is characterized by restriction in blood supply to the retina.", "url": "https://disease-ontology.org/term/DOID:12510", "evidence": [ { "id": "12510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12510" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13139", "name": "crescentic glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:13139", "evidence": [ { "id": "13139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13139" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.", "url": "https://disease-ontology.org/term/DOID:13515", "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13714", "name": "anodontia", "description": "A tooth disease that is characterized by complete absence of permanent teeth.", "url": "https://disease-ontology.org/term/DOID:13714", "evidence": [ { "id": "13714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13714" } ], "weight": 0.0 }, { "disease_id": "DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:14261", "name": "fragile X syndrome", "description": "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.", "url": "https://disease-ontology.org/term/DOID:14261", "evidence": [ { "id": "14261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14261" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1657", "name": "ventricular septal defect", "description": "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.", "url": "https://disease-ontology.org/term/DOID:1657", "evidence": [ { "id": "1657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1657" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1825", "name": "childhood absence epilepsy", "description": "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.", "url": "https://disease-ontology.org/term/DOID:1825", "evidence": [ { "id": "1825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1825" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2234", "name": "focal epilepsy", "description": "An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.", "url": "https://disease-ontology.org/term/DOID:2234", "evidence": [ { "id": "2234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2234" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2508", "name": "Takayasu's arteritis", "description": "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.", "url": "https://disease-ontology.org/term/DOID:2508", "evidence": [ { "id": "2508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2508" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4250", "name": "conjunctivochalasis", "description": "", "url": "https://disease-ontology.org/term/DOID:4250", "evidence": [ { "id": "4250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4250" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4644", "name": "epidermolysis bullosa simplex", "description": "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.", "url": "https://disease-ontology.org/term/DOID:4644", "evidence": [ { "id": "4644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4644" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5213", "name": "chronic inflammatory demyelinating polyradiculoneuropathy", "description": "An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers.", "url": "https://disease-ontology.org/term/DOID:5213", "evidence": [ { "id": "5213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5213" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:646", "name": "viral encephalitis", "description": "An encephalitis that involves inflammation of the brain caused by viral infection.", "url": "https://disease-ontology.org/term/DOID:646", "evidence": [ { "id": "646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:646" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:799", "name": "varicose veins", "description": "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.", "url": "https://disease-ontology.org/term/DOID:799", "evidence": [ { "id": "799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:799" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8440", "name": "ileus", "description": "", "url": "https://disease-ontology.org/term/DOID:8440", "evidence": [ { "id": "8440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8440" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8549", "name": "chronic ulcer of skin", "description": "", "url": "https://disease-ontology.org/term/DOID:8549", "evidence": [ { "id": "8549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8549" } ], "weight": 0.0 }, { "disease_id": "DOID:8553", "name": "pyoderma gangrenosum", "description": "", "url": "https://disease-ontology.org/term/DOID:8553", "evidence": [ { "id": "8553", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8553" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:8881", "name": "rosacea", "description": "", "url": "https://disease-ontology.org/term/DOID:8881", "evidence": [ { "id": "8881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8881" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "extracellular matrix of synaptic cleft", "id": "GO:0098965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098965", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "response to amyloid-beta", "id": "GO:1904645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904645", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte migration", "id": "GO:0051549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051549", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "positive regulation of synaptic plasticity", "id": "GO:0031915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031915", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "collagen catabolic process", "id": "GO:0030574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001243", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "cellular response to cell-matrix adhesion", "id": "GO:0071460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071460", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "modification of synaptic structure, modulating synaptic transmission", "id": "GO:0099564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099564", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "cellular response to UV-A", "id": "GO:0071492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071492", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell differentiation involved in kidney development", "id": "GO:2000697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000697", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "regulation of postsynaptic neurotransmitter receptor diffusion trapping", "id": "GO:0150054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150054", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "negative regulation of cation transmembrane transport", "id": "GO:1904063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904063", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", 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"sites": [], "record_id": "Q9DAI9-1" }, { "uniprot_canonical_ac": "Q9EPL5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPL5", "url": "https://www.uniprot.org/uniprotkb/Q9EPL5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 464, "chemical_mass": 53488.0, "gene_names": "Mmp1a;MMP-1a;Mcol-A;McolA;Mcola;Mmp1a", "protein_name": "Interstitial collagenase A", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050851", "name": "glomerulosclerosis", "description": 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"evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080933", "name": "immunoglobulin light chain amyloidosis", "description": "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells.", "url": "https://disease-ontology.org/term/DOID:0080933", "evidence": [ { "id": "0080933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080933" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2320", "name": "obstructive lung disease", "description": "A lung disease that is characterized by narrowing of pulmonary airways.", "url": "https://disease-ontology.org/term/DOID:2320", "evidence": [ { "id": "2320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2320" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4959", "name": "epidermolysis bullosa dystrophica", "description": "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.", "url": "https://disease-ontology.org/term/DOID:4959", "evidence": [ { "id": "4959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4959" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { 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lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70565527", "evidence": [ { "id": "rs3388973766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388973766" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Ala189", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70565457", "evidence": [ { "id": "rs3388963181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388963181" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Arg192", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70565449", "evidence": [ { "id": "rs3388969214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388969214" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Arg223", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70565259", "evidence": [ { "id": "rs3399315360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399315360" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70565258", "evidence": [ { "id": "rs3388939765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388939765" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Gly22", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70569247", "evidence": [ { "id": "rs3388957096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388957096" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Leu233", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70565229", "evidence": [ { "id": "rs3388983951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388983951" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ala254", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70565166", "evidence": [ { "id": "rs3398786745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398786745" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ala31", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70568019", "evidence": [ { "id": "rs3388983810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388983810" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Gly347", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70564574", "evidence": [ { "id": "rs3388987034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388987034" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Ser371", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70563169_70563170insCTGCTTTTTCTATAGCTCATCACCATACAGCACAACATGGAGATTCTGAGATCCCCTCATCTGGAGATGAGGGGGATCTCAGAATCTCCAT", "evidence": [ { "id": "rs3399206763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399206763" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Ala400", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70563059", "evidence": [ { "id": "rs3388957105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388957105" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Pro416", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70563010", "evidence": [ { "id": "rs3388969215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388969215" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ala438", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562945", "evidence": [ { "id": "rs221305483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221305483" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Phe448", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562915", "evidence": [ { "id": "rs240080336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240080336" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Met467", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562858", "evidence": [ { "id": "rs214799496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214799496" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Arg47", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70567971", "evidence": [ { "id": "rs227901939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227901939" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Arg484", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "TL*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562806_70562807insACGATGAGGAGGGGCCGCTTTAAA", "evidence": [ { "id": "rs3398959231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398959231" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Arg485", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562804", "evidence": [ { "id": "rs3399288913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399288913" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Gln504", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562747", "evidence": [ { "id": "rs233285620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233285620" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Val508", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562734", "evidence": [ { "id": "rs260048502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260048502" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Pro516", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562711", "evidence": [ { "id": "rs3507893058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507893058" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Ala520", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562698", "evidence": [ { "id": "rs3388939790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388939790" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ala522", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562692", "evidence": [ { "id": "rs3388980156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388980156" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Asn523", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562689", "evidence": [ { "id": "rs226597062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226597062" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Arg526", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562680", "evidence": [ { "id": "rs51122824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51122824" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Ala529", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562672", "evidence": [ { "id": "rs243087458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243087458" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Ser534", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562656", "evidence": [ { "id": "rs220977682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220977682" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Gly554", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562597", "evidence": [ { "id": "rs3388987752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388987752" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Leu558", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561294", "evidence": [ { "id": "rs249972023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249972023" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Gly559", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561290", "evidence": [ { "id": "rs3388983959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388983959" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Glu565", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561272", "evidence": [ { "id": "rs3388969183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388969183" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Leu56", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70567945", "evidence": [ { "id": "rs3388957106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388957106" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Ser580", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561227", "evidence": [ { "id": "rs247400056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247400056" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "589", "end_pos": "589", "site_lbl": "Pro589", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561201", "evidence": [ { "id": "rs219871265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219871265" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Ala591", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561194", "evidence": [ { "id": "rs3388963167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388963167" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Pro605", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561152", "evidence": [ { "id": "rs241823251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241823251" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Pro608", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561143", "evidence": [ { "id": "rs3388973774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388973774" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Leu644", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561036", "evidence": [ { "id": "rs3388973758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388973758" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Ser670", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Phe90", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20779969", "evidence": [ { "id": "rs3389283718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389283718" } ] } ] } ], "record_id": "P52850-1" }, { "uniprot_canonical_ac": "Q99LY9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LY9", "url": "https://www.uniprot.org/uniprotkb/Q99LY9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 106, "chemical_mass": 12648.0, "gene_names": "Ndufs5;Ndufs5", "protein_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 5", "disease": [], "cellular_component": [ { "name": 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"mitochondrial respiratory chain complex I assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ { "database": "UniProtKB", "id": "Q99LY9", "url": "https://www.uniprot.org/uniprotkb/Q99LY9" } ], "pmid": "" }, { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "Q99LY9", "url": "https://www.uniprot.org/uniprotkb/Q99LY9" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "Q99LY9", "url": "https://www.uniprot.org/uniprotkb/Q99LY9" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "Q99LY9", "url": "https://www.uniprot.org/uniprotkb/Q99LY9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99LY9-1" }, { "uniprot_canonical_ac": "O70131-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70131", "url": "https://www.uniprot.org/uniprotkb/O70131" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 152, "chemical_mass": 16555.0, "gene_names": "Ninj1;Ninj1", "protein_name": "Ninjurin-1", "disease": [], "biological_process": [ { "name": "positive regulation of osteoclast development", "id": "GO:2001206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001206", "evidence": [ { "database": "UniProtKB", "id": "O70131", "url": "https://www.uniprot.org/uniprotkb/O70131" } ], "pmid": "" }, { "name": "hyaloid vascular plexus regression", "id": "GO:1990384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990384", "evidence": [ { "database": "UniProtKB", "id": "O70131", "url": "https://www.uniprot.org/uniprotkb/O70131" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "O70131", "url": "https://www.uniprot.org/uniprotkb/O70131" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O70131", "url": "https://www.uniprot.org/uniprotkb/O70131" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O70131", "url": "https://www.uniprot.org/uniprotkb/O70131" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "O70131", "url": "https://www.uniprot.org/uniprotkb/O70131" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "O70131", "url": "https://www.uniprot.org/uniprotkb/O70131" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "O70131", "url": "https://www.uniprot.org/uniprotkb/O70131" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "O70131", "url": "https://www.uniprot.org/uniprotkb/O70131" } ], "pmid": "" }, { "name": "regulation of angiogenesis", "id": "GO:0045765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045765", "evidence": [ { "database": "UniProtKB", "id": "O70131", "url": "https://www.uniprot.org/uniprotkb/O70131" } ], "pmid": "" }, { "name": 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"url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of oocyte development", "id": "GO:0060282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060282", "evidence": [ { "database": "UniProtKB", "id": "Q8CG03", "url": "https://www.uniprot.org/uniprotkb/Q8CG03" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8CG03", "url": "https://www.uniprot.org/uniprotkb/Q8CG03" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q8CG03", "url": "https://www.uniprot.org/uniprotkb/Q8CG03" } ], "pmid": "" }, { "name": "positive regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045745", "url": 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"GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "Q8CG03", "url": "https://www.uniprot.org/uniprotkb/Q8CG03" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002026", "evidence": [ { "database": "UniProtKB", "id": "Q8CG03", "url": "https://www.uniprot.org/uniprotkb/Q8CG03" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "Q8CG03", "url": "https://www.uniprot.org/uniprotkb/Q8CG03" } ], "pmid": "" }, { "name": "relaxation of cardiac muscle", "id": "GO:0055119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055119", "evidence": [ { "database": "UniProtKB", "id": "Q8CG03", "url": "https://www.uniprot.org/uniprotkb/Q8CG03" } ], "pmid": "" }, { "name": "cGMP metabolic process", 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"pmid": "" }, { "name": "RPAP3/R2TP/prefoldin-like complex", "id": "GO:1990062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990062", "evidence": [ { "database": "UniProtKB", "id": "Q03958", "url": "https://www.uniprot.org/uniprotkb/Q03958" } ], "pmid": "" } ], "molecular_function": [ { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q03958", "url": "https://www.uniprot.org/uniprotkb/Q03958" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q03958", "url": "https://www.uniprot.org/uniprotkb/Q03958" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q03958", "url": "https://www.uniprot.org/uniprotkb/Q03958" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q03958", "url": "https://www.uniprot.org/uniprotkb/Q03958" } ], "pmid": "" }, { "name": "chaperone-mediated protein complex assembly", "id": "GO:0051131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051131", "evidence": [ { "database": "UniProtKB", "id": "Q03958", "url": "https://www.uniprot.org/uniprotkb/Q03958" } ], "pmid": "" }, { "name": "negative regulation of amyloid fibril formation", "id": "GO:1905907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905907", "evidence": [ { "database": "UniProtKB", "id": "Q03958", "url": "https://www.uniprot.org/uniprotkb/Q03958" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q03958-1" } ]