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"weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80W00", "url": "https://www.uniprot.org/uniprotkb/Q80W00" } ] } ] }, { "uniprot_canonical_ac": "Q80W00-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Thr398", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80W00", "url": "https://www.uniprot.org/uniprotkb/Q80W00" } ] } ] }, { "uniprot_canonical_ac": "Q80W00-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Ser545", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80W00", "url": "https://www.uniprot.org/uniprotkb/Q80W00" } ] } ] }, { "uniprot_canonical_ac": "Q80W00-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Ser591", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80W00", "url": "https://www.uniprot.org/uniprotkb/Q80W00" } ] } ] }, { "uniprot_canonical_ac": "Q80W00-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Lys122", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "17", "chr_pos": "36235785", "evidence": [ { "id": "rs3389464412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389464412" } ] } ] }, { "uniprot_canonical_ac": "Q80W00-1", "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: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "17", "chr_pos": "36237930", "evidence": [ { "id": "rs3552769809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552769809" } ] } ] }, { "uniprot_canonical_ac": "Q80W00-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Asn424", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "17", "chr_pos": "36239553", "evidence": [ { "id": "rs3389460686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389460686" } ] } ] }, { "uniprot_canonical_ac": "Q80W00-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Trp401", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of interaction with PPP1CA but no effect on interaction with TOX4 or WDR82. Cell cycle arrest at mitosis and cell death. Exhibits normal association with chromosomes but shows defects in the process of chromosome decondensation at late telophase.", "evidence": [ { "database": "UniProtKB", "id": "Q80W00", "url": "https://www.uniprot.org/uniprotkb/Q80W00" }, { "database": "PubMed", "id": "20516061", "url": "https://glygen.org/publication/PubMed/20516061" } ] } ] } ], "record_id": "Q80W00-1" }, { "uniprot_canonical_ac": "Q9JKY5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1068, "chemical_mass": 119426.0, "gene_names": "Hip1r;Hip1r;mKIAA0655", "protein_name": "Huntingtin-interacting protein 1-related protein", "disease": [], "biological_process": [ { "name": "regulation of gastric acid secretion", "id": "GO:0060453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060453", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "positive regulation of clathrin coat assembly", "id": "GO:1905445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905445", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "positive regulation of platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:2000588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000588", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "regulation of endocytosis", "id": "GO:0030100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030100", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "regulation of clathrin-dependent endocytosis", "id": "GO:2000369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000369", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "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": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "digestive system development", "id": "GO:0055123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055123", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "id": "GO:1901030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901030", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "negative regulation of actin filament polymerization", "id": "GO:0030837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030837", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "positive regulation of clathrin-dependent endocytosis", "id": "GO:2000370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000370", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "negative regulation of Arp2/3 complex-mediated actin nucleation", "id": "GO:0034316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034316", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "postsynapse organization", "id": "GO:0099173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099173", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "clathrin-coated vesicle membrane", "id": "GO:0030665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "postsynaptic endocytic zone", "id": "GO:0098843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098843", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": "https://www.uniprot.org/uniprotkb/Q9JKY5" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q9JKY5", "url": 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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(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 insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "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": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "branching involved in labyrinthine layer morphogenesis", "id": "GO:0060670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060670", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "placenta blood vessel development", "id": "GO:0060674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060674", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "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": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "interleukin-6-mediated signaling pathway", "id": "GO:0070102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070102", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "cellular response to interleukin-17", "id": "GO:0097398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097398", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphotyrosine residue binding", "id": "GO:0001784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "protein kinase inhibitor activity", "id": "GO:0004860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004860", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "protein tyrosine kinase inhibitor activity", "id": "GO:0030292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030292", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "cytokine receptor binding", "id": "GO:0005126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005126", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35718-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Thr133", "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": 133, "start_aa": "Thr", "end_pos": 133, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr133", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Tyr204", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O35718", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35718" }, { "database": "PubMed", "id": "30236924", "url": "https://glygen.org/publication/PubMed/30236924" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Tyr221", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O35718", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35718" }, { "database": "PubMed", "id": "15173187", "url": "https://glygen.org/publication/PubMed/15173187" }, { "database": "PubMed", "id": "30236924", "url": "https://glygen.org/publication/PubMed/30236924" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Thr3", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O35718", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35718" }, { "database": "PubMed", "id": "24997069", "url": "https://glygen.org/publication/PubMed/24997069" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Ile167", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (IYS->NYS); glycogene of type=glycogene, stem cell markers.", "chr_id": "11", "chr_pos": "117858557", "evidence": [ { "id": "rs3389216486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389216486" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Phe102", "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": "11", "chr_pos": "117858752", "evidence": [ { "id": "rs3402929381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402929381" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Ser103", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "11", "chr_pos": "117858750", "evidence": [ { "id": "rs3402167677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402167677" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Asp118", "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": "11", "chr_pos": "117858703", "evidence": [ { "id": "rs3389221242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389221242" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Pro152", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "11", "chr_pos": "117858602", "evidence": [ { "id": "rs3389219841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389219841" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "11", "chr_pos": "117858603", "evidence": [ { "id": "rs3389210723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389210723" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "162", "end_pos": 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"comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "11", "chr_pos": "117858867", "evidence": [ { "id": "rs3389232836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389232836" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Leu22", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No effect on LIF-induced signal transduction suppression.", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" }, { "database": "PubMed", "id": "10882725", "url": "https://glygen.org/publication/PubMed/10882725" } ] }, { "sequence_org": "L", "sequence_mut": "D", "comment": "Abolishes binding to JAK2. No effect on binding to EPOR.", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" }, { "database": "PubMed", "id": "10882725", "url": "https://glygen.org/publication/PubMed/10882725" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Phe25", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of LIF/EPO-induced signal transduction suppression. 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No effect on binding to JAK2.", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" }, { "database": "PubMed", "id": "10882725", "url": "https://glygen.org/publication/PubMed/10882725" } ] } ] }, { "uniprot_canonical_ac": "O35718-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Arg71", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Little effect on LIF-induced signal transduction suppression. Loss of EPO-induced signal transduction suppression. Abolishes binding to JAK2 and EPOR.", "evidence": [ { "database": "UniProtKB", "id": "O35718", "url": "https://www.uniprot.org/uniprotkb/O35718" }, { "database": "PubMed", "id": "10882725", "url": "https://glygen.org/publication/PubMed/10882725" } ] } ] } ], "record_id": "O35718-1" }, { "uniprot_canonical_ac": "P61807-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61807", "url": "https://www.uniprot.org/uniprotkb/P61807" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 88, "chemical_mass": 9501.0, "gene_names": "Snn;2810407J07Rik;Snn", "protein_name": "Stannin", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P61807", "url": "https://www.uniprot.org/uniprotkb/P61807" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", 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} ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q61321", "url": "https://www.uniprot.org/uniprotkb/Q61321" } ], "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": "Q61321", "url": "https://www.uniprot.org/uniprotkb/Q61321" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q61321", "url": "https://www.uniprot.org/uniprotkb/Q61321" } ], "pmid": "" }, { "name": "positive regulation of branching involved in ureteric bud morphogenesis", "id": "GO:0090190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090190", "evidence": [ { "database": "UniProtKB", "id": "Q61321", "url": "https://www.uniprot.org/uniprotkb/Q61321" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q61321", "url": "https://www.uniprot.org/uniprotkb/Q61321" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q61321", "url": "https://www.uniprot.org/uniprotkb/Q61321" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "Q61321", "url": "https://www.uniprot.org/uniprotkb/Q61321" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "Q61321", "url": "https://www.uniprot.org/uniprotkb/Q61321" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q61321", "url": "https://www.uniprot.org/uniprotkb/Q61321" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "Q61321", "url": "https://www.uniprot.org/uniprotkb/Q61321" } ], "pmid": "" }, { "name": "myoblast migration", "id": "GO:0051451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051451", "evidence": [ { "database": "UniProtKB", "id": "Q61321", "url": "https://www.uniprot.org/uniprotkb/Q61321" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "Q61321", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q3TDD9", "url": "https://www.uniprot.org/uniprotkb/Q3TDD9" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of intracellular mRNA localization", "id": "GO:1904580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904580", "evidence": [ { "database": "UniProtKB", "id": "Q3TDD9", "url": "https://www.uniprot.org/uniprotkb/Q3TDD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TDD9-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Asn723", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LASQNISR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 723, "start_aa": "Asn", "end_pos": 723, "end_aa": "Asn", "residue": 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"weight": 0.0 } ], "biological_process": [ { "name": "heart valve development", "id": "GO:0003170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003170", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "regulation of natural killer cell differentiation", "id": "GO:0032823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032823", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "regulation of extrathymic T cell differentiation", "id": "GO:0033082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033082", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "regulation of NK T cell differentiation", "id": "GO:0051136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051136", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "sebum secreting cell proliferation", "id": "GO:1990654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990654", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "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": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "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": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "peptidyl-arginine methylation", "id": "GO:0018216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018216", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "maternal placenta development", "id": "GO:0001893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001893", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "negative regulation of B cell proliferation", "id": "GO:0030889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030889", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "positive regulation of B cell differentiation", "id": "GO:0045579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045579", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "eye photoreceptor cell development", "id": "GO:0042462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042462", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "morphogenesis of a branching structure", "id": "GO:0001763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001763", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "trophoblast giant cell differentiation", "id": "GO:0060707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060707", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "cardiac septum development", "id": "GO:0003279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003279", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "intestinal epithelial cell development", "id": "GO:0060576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060576", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "negative regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031665", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "retinal bipolar neuron differentiation", "id": "GO:0060040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060040", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "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": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "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": "Q60636", "url": "https://www.uniprot.org/uniprotkb/Q60636" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": 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"Thr199", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NTT->NTM); glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43308756", "evidence": [ { "id": "rs215077728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215077728" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Asp102", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309251", "evidence": [ { "id": "rs45883751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45883751" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Trp104", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309246", "evidence": [ { "id": "rs242158137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242158137" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ala120", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309198", "evidence": [ { "id": "rs5528010437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5528010437" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Glu128", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309175", "evidence": [ { "id": "rs3388906481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906481" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309174", "evidence": [ { "id": "rs3388906413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906413" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Lys14", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309515", "evidence": [ { "id": "rs219499919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219499919" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Asn150", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43308903", "evidence": [ { "id": "rs254093199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254093199" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Thr159", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43308876", "evidence": [ { "id": "rs236207133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236207133" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Gly200", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43308754", "evidence": [ { "id": "rs3397837838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397837838" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Tyr240", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43308443", "evidence": [ { "id": "rs3388886699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388886699" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Val24", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309486", "evidence": [ { "id": "rs46346803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46346803" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Asp254", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43308402", "evidence": [ { "id": "rs3388878470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388878470" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Ile277", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43307157", "evidence": [ { "id": "rs50616795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50616795" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Phe364", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43305977", "evidence": [ { "id": "rs238309199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238309199" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Leu371", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43305957", "evidence": [ { "id": "rs3388902389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388902389" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Ser376", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43305590", "evidence": [ { "id": "rs3388902422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388902422" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Asp392", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43305542", "evidence": [ { "id": "rs237821969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237821969" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Leu403", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43301106", "evidence": [ { "id": "rs252560982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252560982" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ala408", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43301091", "evidence": [ { "id": "rs242931785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242931785" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Gly447", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43300974", "evidence": [ { "id": "rs215510648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215510648" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Pro44", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309427", "evidence": [ { "id": "rs3388883858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388883858" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Glu457", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43300945", "evidence": [ { "id": "rs3388908059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908059" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Phe460", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43300936", "evidence": [ { "id": "rs263368948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263368948" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Tyr49", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43308443", "evidence": [ { "id": "rs3388886699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388886699" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Leu54", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309396", "evidence": [ { "id": "rs47358206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47358206" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Asp59", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309382", "evidence": [ { "id": "rs242329151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242329151" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "64", "end_pos": "64", "site_lbl": "His64", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309366", "evidence": [ { "id": "rs226047372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226047372" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Tyr68", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309354", "evidence": [ { "id": "rs255283784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255283784" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Lys76", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309330", "evidence": [ { "id": "rs239925219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239925219" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ile86", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43307157", "evidence": [ { "id": "rs50616795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50616795" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Arg87", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309297", "evidence": [ { "id": "rs224006692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224006692" } ] } ] }, { "uniprot_canonical_ac": "Q91Y57-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Lys88", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/cd33-related.", "chr_id": "7", "chr_pos": "43309295", "evidence": [ { "id": "rs46672383", "database": "dbSNP", "url": 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"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: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 } ], "biological_process": [ { "name": "response to carbon monoxide", "id": "GO:0034465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034465", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "retrograde axonal transport", "id": "GO:0008090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008090", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to superoxide", "id": "GO:0000303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000303", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "neuronal action potential", "id": "GO:0019228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019228", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "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": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "positive regulation of catalytic activity", "id": "GO:0043085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043085", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "relaxation of vascular associated smooth muscle", "id": "GO:0060087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060087", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "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": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "retina homeostasis", "id": "GO:0001895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001895", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "anterograde axonal transport", "id": "GO:0008089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to copper ion", "id": "GO:0046688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046688", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "hydrogen peroxide biosynthetic process", "id": "GO:0050665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050665", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "removal of superoxide radicals", "id": "GO:0019430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019430", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "peripheral nervous system myelin maintenance", "id": "GO:0032287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032287", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "cellular response to cadmium ion", "id": "GO:0071276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071276", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "neurofilament cytoskeleton organization", "id": "GO:0060052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060052", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "myeloid cell homeostasis", "id": "GO:0002262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002262", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "auditory receptor cell stereocilium organization", "id": "GO:0060088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060088", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "cellular response to potassium ion", "id": "GO:0035865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035865", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "superoxide metabolic process", "id": "GO:0006801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006801", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "cellular response to ATP", "id": "GO:0071318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071318", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "response to antipsychotic drug", "id": "GO:0097332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097332", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902177", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "superoxide anion generation", "id": "GO:0042554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042554", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "action potential initiation", "id": "GO:0099610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099610", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P08228", "url": "https://www.uniprot.org/uniprotkb/P08228" } ], "pmid": "" }, { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0031210", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" }, { "name": "voltage-gated monoatomic ion channel activity", "id": "GO:0005244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005244", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" }, { "name": "monoatomic anion channel activity", "id": "GO:0005253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005253", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" }, { "name": "porin activity", "id": "GO:0015288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015288", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" }, { "name": "ceramide binding", "id": "GO:0097001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097001", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" }, { "name": "voltage-gated monoatomic anion channel activity", "id": "GO:0008308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008308", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" }, { "name": "voltage-gated channel activity", "id": "GO:0022832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022832", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" } ], "cellular_component": [ { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60932", "url": "https://www.uniprot.org/uniprotkb/Q60932" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": 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} ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BID6", "url": "https://www.uniprot.org/uniprotkb/Q8BID6" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q8BID6", "url": "https://www.uniprot.org/uniprotkb/Q8BID6" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BID6", "url": "https://www.uniprot.org/uniprotkb/Q8BID6" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q8BID6", "url": 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"Ser234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BID6", "url": "https://www.uniprot.org/uniprotkb/Q8BID6" } ] } ] } ], "record_id": "Q8BID6-1" }, { "uniprot_canonical_ac": "O08863-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08863", "url": "https://www.uniprot.org/uniprotkb/O08863" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 600, "chemical_mass": 67228.0, "gene_names": "Birc3;Api1;Api2;Birc3;C-IAP2;HIAP2;IAP1;IAP2;MIAP1;MIAP2;MIHB;MIHC;RNF49;cIAP-1;cIAP-2;cIAP1;cIAP2", "protein_name": "Baculoviral IAP repeat-containing protein 3", "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", 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"Q8BX80-1" }, { "uniprot_canonical_ac": "Q6Y685-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 774, "chemical_mass": 83952.0, "gene_names": "Tacc1;4833447E04Rik;B230378H13Rik;Tacc1", "protein_name": "Transforming acidic coiled-coil-containing protein 1", "disease": [], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" }, { "name": "nuclear glucocorticoid receptor binding", "id": "GO:0035259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035259", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" }, { "name": "nuclear retinoic acid receptor binding", "id": "GO:0042974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042974", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" }, { "name": "peroxisome proliferator activated receptor binding", "id": "GO:0042975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042975", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" }, { "name": "nuclear thyroid hormone receptor binding", "id": "GO:0046966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046966", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" }, { "name": "nuclear retinoid X receptor binding", "id": "GO:0046965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046965", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": "https://www.uniprot.org/uniprotkb/Q6Y685" } ], "pmid": "" } ], "biological_process": [ { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q6Y685", "url": 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"id": "rs258897853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258897853" } ] } ] }, { "uniprot_canonical_ac": "Q8R3I9-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Val384", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "25328722", "evidence": [ { "id": "rs257903697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257903697" } ] } ] }, { "uniprot_canonical_ac": "Q8R3I9-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Cys86", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "25327827", "evidence": [ { "id": "rs3388868875", "database": "dbSNP", "url": 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"disease": [ { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "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. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "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: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. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "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: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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "positive regulation of viral life cycle", "id": "GO:1903902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903902", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "dendritic cell migration", "id": "GO:0036336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036336", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "B cell adhesion", "id": "GO:0097323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097323", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "immature T cell proliferation", "id": "GO:0033079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033079", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW9", "url": "https://www.uniprot.org/uniprotkb/Q91ZW9" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13479003" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Leu341", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120194503", "evidence": [ { "id": "rs3388858909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858909" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Leu359", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120194449", "evidence": [ { "id": "rs3389584651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389584651" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120193575", "evidence": [ { "id": "rs3412695483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412695483" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Pro420", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120193246", "evidence": [ { "id": "rs249029748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249029748" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "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, glycosyltransferase.", "chr_id": "6", "chr_pos": "120193238", "evidence": [ { "id": "rs3388851427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388851427" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Leu430", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192444", "evidence": [ { "id": "rs3388853839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388853839" } ] }, { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192446", "evidence": [ { "id": "rs3388857890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388857890" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Leu431", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192444", "evidence": [ { "id": "rs3388853839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388853839" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ile461", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192353", "evidence": [ { "id": "rs30711638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30711638" } ] }, { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192354", "evidence": [ { "id": "rs29827087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29827087" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Gln481", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192293", "evidence": [ { "id": "rs3388861300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388861300" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Pro484", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192284", "evidence": [ { "id": "rs220029268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220029268" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Thr501", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192233", "evidence": [ { "id": "rs3544856032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544856032" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Arg508", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192212", "evidence": [ { "id": "rs31701301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31701301" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Ser512", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192200", "evidence": [ { "id": "rs3388837377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388837377" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Arg527", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192155", "evidence": [ { "id": "rs1132669153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132669153" } ] }, { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192156", "evidence": [ { "id": "rs3388848845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388848845" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Arg537", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192125", "evidence": [ { "id": "rs3388861273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388861273" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Lys545", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120192102", "evidence": [ { "id": "rs3388857895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388857895" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Gly624", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120191864", "evidence": [ { "id": "rs3388845519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388845519" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "637", "end_pos": "637", "site_lbl": "Leu637", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120191826", "evidence": [ { "id": "rs3388853877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388853877" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "683", "end_pos": "683", "site_lbl": "Ile683", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120187349", "evidence": [ { "id": "rs3396884595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396884595" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "713", "end_pos": "713", "site_lbl": "Leu713", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120187260", "evidence": [ { "id": "rs3388852598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388852598" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "720", "end_pos": "720", "site_lbl": "Arg720", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120187238_120187239insAACCATCACT", "evidence": [ { "id": "rs3388852564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388852564" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Gly724", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120187226", "evidence": [ { "id": "rs3388845474", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388845474" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "727", "end_pos": "727", "site_lbl": "His727", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120187217", "evidence": [ { "id": "rs260713694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260713694" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Pro728", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120187215", "evidence": [ { "id": "rs240124367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240124367" } ] }, { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120187214", "evidence": [ { "id": "rs217706754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217706754" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Asn771", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120187084", "evidence": [ { "id": "rs3388839975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388839975" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "816", "end_pos": "816", "site_lbl": "Ser816", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120186245", "evidence": [ { "id": "rs31699163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31699163" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "828", "end_pos": "828", "site_lbl": "Arg828", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120186209", "evidence": [ { "id": "rs3397442097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397442097" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "862", "end_pos": "862", "site_lbl": "Ile862", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120184222", "evidence": [ { "id": "rs243121925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243121925" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "863", "end_pos": "863", "site_lbl": "Ile863", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120184222", "evidence": [ { "id": "rs243121925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243121925" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "871", "end_pos": "871", "site_lbl": "His871", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120184196", "evidence": [ { "id": "rs3397346902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397346902" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "879", "end_pos": "879", "site_lbl": "Thr879", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120184174", "evidence": [ { "id": "rs31698248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31698248" } ] } ] }, { "uniprot_canonical_ac": "Q6L8S8-1", "start_pos": "946", "end_pos": "946", "site_lbl": "Trp946", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "120183455", "evidence": [ { "id": "rs3388845506", "database": "dbSNP", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388956968" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Arg534", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648086", "evidence": [ { "id": "rs3388943096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388943096" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Asp538", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648097", "evidence": [ { "id": "rs218780570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218780570" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Glu53", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140643756", "evidence": [ { "id": "rs250493197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250493197" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Pro563", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648172", "evidence": [ { "id": "rs3388937424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388937424" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Lys577", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648214", "evidence": [ { "id": "rs3388960881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388960881" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Glu580", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648224", "evidence": [ { "id": "rs252809501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252809501" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Gly593", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648263", "evidence": [ { "id": "rs262211112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262211112" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Ser61", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140643779", "evidence": [ { "id": "rs3398477202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398477202" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Phe622", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648350", "evidence": [ { "id": "rs3398477188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398477188" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Leu623", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648352", "evidence": [ { "id": "rs240184697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240184697" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Arg630", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648374", "evidence": [ { "id": "rs260988908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260988908" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Glu639", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648401", "evidence": [ { "id": "rs222468218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222468218" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "640", "end_pos": "640", "site_lbl": "Gly640", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140648404", "evidence": [ { "id": "rs237794327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237794327" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Val64", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140643788", "evidence": [ { "id": "rs3398203495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398203495" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Arg65", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140643792", "evidence": [ { "id": "rs246347831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246347831" } ] }, { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of 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"id": "rs3388964148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964148" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "796", "end_pos": "796", "site_lbl": "Ser796", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140650521", "evidence": [ { "id": "rs3388964138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964138" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "814", "end_pos": "814", "site_lbl": "Arg814", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140650574", "evidence": [ { "id": "rs3388916154", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q766D5-1", "start_pos": "847", "end_pos": "847", "site_lbl": "Gly847", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140650766", "evidence": [ { "id": "rs3388948438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388948438" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "848", "end_pos": "848", "site_lbl": "Asp848", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140650769", "evidence": [ { "id": "rs3388937446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388937446" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "888", "end_pos": "888", "site_lbl": "Arg888", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140650990", "evidence": [ { "id": "rs3388954359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388954359" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "951", "end_pos": "951", "site_lbl": "His951", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140651272", "evidence": [ { "id": "rs3388959797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388959797" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "959", "end_pos": "959", "site_lbl": "Phe959", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140651570", "evidence": [ { "id": "rs3388954337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388954337" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "978", "end_pos": "978", "site_lbl": "Glu978", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140651629", "evidence": [ { "id": "rs3388948432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388948432" } ] } ] }, { "uniprot_canonical_ac": "Q766D5-1", "start_pos": "984", "end_pos": "984", "site_lbl": "Trp984", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "140651646", "evidence": [ { "id": "rs3388965594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388965594" } ] } ] } ], "record_id": "Q766D5-1" }, { "uniprot_canonical_ac": "Q7JJ13-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7JJ13", "url": "https://www.uniprot.org/uniprotkb/Q7JJ13" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 798, "chemical_mass": 88067.0, "gene_names": "Brd2;Brd2;D17H6S113E;Frg-1;Fsrg-1;Fsrg1;Kiaa4005;Nat;Ring3;Rnf3;mKIAA4005", "protein_name": "Bromodomain-containing protein 2", "disease": [ { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": 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characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.", "url": "https://disease-ontology.org/term/DOID:4890", "evidence": [ { "id": "4890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4890" } ], "weight": 0.0 }, { "disease_id": "DOID:707", "name": "B-cell lymphoma", "description": "A non-Hodgkin lymphoma that has_material_basis_in B cells.", "url": "https://disease-ontology.org/term/DOID:707", "evidence": [ { "id": "707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:707" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q7JJ13", "url": "https://www.uniprot.org/uniprotkb/Q7JJ13" } ], "pmid": "" }, { "name": "acetylation-dependent protein binding", "id": "GO:0140033", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8CFG9", "url": "https://www.uniprot.org/uniprotkb/Q8CFG9" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "Q8CFG9", "url": "https://www.uniprot.org/uniprotkb/Q8CFG9" } ], "pmid": "" }, { "name": "complement component C1 complex", "id": "GO:0005602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005602", "evidence": [ { "database": "UniProtKB", "id": "Q8CFG9", "url": "https://www.uniprot.org/uniprotkb/Q8CFG9" } ], "pmid": "" }, { "name": "symbiont cell surface", "id": "GO:0106139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106139", "evidence": [ { "database": "UniProtKB", "id": "Q8CFG9", "url": "https://www.uniprot.org/uniprotkb/Q8CFG9" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": 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} ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "Q8CFR0", "url": "https://www.uniprot.org/uniprotkb/Q8CFR0" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8CFR0", "url": "https://www.uniprot.org/uniprotkb/Q8CFR0" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "Q8CFR0", "url": "https://www.uniprot.org/uniprotkb/Q8CFR0" } ], "pmid": "" }, { "name": "cerebellar climbing fiber to Purkinje cell synapse", "id": "GO:0150053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150053", "evidence": [ { "database": "UniProtKB", "id": "Q8CFR0", "url": "https://www.uniprot.org/uniprotkb/Q8CFR0" } ], 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"https://www.uniprot.org/uniprotkb/Q8R066" } ], "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": "Q8R066", "url": "https://www.uniprot.org/uniprotkb/Q8R066" } ], "pmid": "" }, { "name": "protein import", "id": "GO:0017038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017038", "evidence": [ { "database": "UniProtKB", "id": "Q8R066", "url": "https://www.uniprot.org/uniprotkb/Q8R066" } ], "pmid": "" }, { "name": "toll-like receptor 4 signaling pathway", "id": "GO:0034142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034142", "evidence": [ { "database": "UniProtKB", "id": "Q8R066", "url": "https://www.uniprot.org/uniprotkb/Q8R066" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q8R066", "url": "https://www.uniprot.org/uniprotkb/Q8R066" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "Q8R066", "url": "https://www.uniprot.org/uniprotkb/Q8R066" } ], "pmid": "" }, { "name": "reduction of food intake in response to dietary excess", "id": "GO:0002023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002023", "evidence": [ { "database": "UniProtKB", "id": "Q8R066", "url": "https://www.uniprot.org/uniprotkb/Q8R066" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via STAT", "id": "GO:0097696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097696", "evidence": [ { "database": "UniProtKB", "id": "Q8R066", "url": "https://www.uniprot.org/uniprotkb/Q8R066" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8R066", "url": "https://www.uniprot.org/uniprotkb/Q8R066" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q8R066", "url": "https://www.uniprot.org/uniprotkb/Q8R066" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R066-1" }, { "uniprot_canonical_ac": "Q8R087-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R087", "url": "https://www.uniprot.org/uniprotkb/Q8R087" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 327, "chemical_mass": 37754.0, "gene_names": "B4galt7;B4galt7;XGPT;XGalT-1;Xgalt1", "protein_name": "Beta-1,4-galactosyltransferase 7", "disease": [ { "disease_id": "DOID:0080738", "name": "Ehlers-Danlos syndrome spondylodysplastic type 1", 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EDS has five cardinal signs, which may be present to some degree in all of the subtypes. 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"UniProtKB", "id": "Q8R087", "url": "https://www.uniprot.org/uniprotkb/Q8R087" } ], "pmid": "" }, { "name": "xylosylprotein 4-beta-galactosyltransferase activity", "id": "GO:0046525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046525", "evidence": [ { "database": "UniProtKB", "id": "Q8R087", "url": "https://www.uniprot.org/uniprotkb/Q8R087" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8R087", "url": "https://www.uniprot.org/uniprotkb/Q8R087" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q8R087", "url": "https://www.uniprot.org/uniprotkb/Q8R087" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "Q8R087", "url": "https://www.uniprot.org/uniprotkb/Q8R087" } ], "pmid": "" }, { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "Q8R087", "url": "https://www.uniprot.org/uniprotkb/Q8R087" } ], "pmid": "" }, { "name": "glycosaminoglycan biosynthetic process", "id": "GO:0006024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006024", "evidence": [ { "database": "UniProtKB", "id": "Q8R087", "url": "https://www.uniprot.org/uniprotkb/Q8R087" } ], "pmid": "" }, { "name": "proteoglycan metabolic process", "id": "GO:0006029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006029", "evidence": [ { "database": "UniProtKB", "id": "Q8R087", "url": "https://www.uniprot.org/uniprotkb/Q8R087" } ], "pmid": "" }, { "name": "supramolecular fiber organization", "id": "GO:0097435", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q8VIB5", "url": "https://www.uniprot.org/uniprotkb/Q8VIB5" } ], "pmid": "" }, { "name": "regulation of axon extension", "id": "GO:0030516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030516", "evidence": [ { "database": "UniProtKB", "id": "Q8VIB5", "url": "https://www.uniprot.org/uniprotkb/Q8VIB5" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q8VIB5", "url": "https://www.uniprot.org/uniprotkb/Q8VIB5" } ], "pmid": "" }, { "name": "cell fate determination", "id": "GO:0001709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001709", "evidence": [ { "database": "UniProtKB", "id": "Q8VIB5", "url": "https://www.uniprot.org/uniprotkb/Q8VIB5" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q8VIB5", "url": "https://www.uniprot.org/uniprotkb/Q8VIB5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VIB5-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Thr49", "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": 49, "start_aa": "Thr", "end_pos": 49, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr49", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8VIB5-1" }, { "uniprot_canonical_ac": "Q91VA3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91VA3", "url": "https://www.uniprot.org/uniprotkb/Q91VA3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 703, "chemical_mass": 79335.0, "gene_names": "Capn8;Capn8;Ncl2;nCL-2';nCL-2", "protein_name": "Calpain-8", "disease": [ { "disease_id": "DOID:0110821", "name": "hereditary spastic paraplegia 76", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0110821", "evidence": [ { "id": "0110821", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110821" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.", "url": "https://disease-ontology.org/term/DOID:2476", "evidence": [ { "id": "2476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ], "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": "calcium-dependent cysteine-type endopeptidase activity", "id": "GO:0004198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004198", "evidence": [ { "database": "UniProtKB", "id": "Q91VA3", "url": "https://www.uniprot.org/uniprotkb/Q91VA3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91VA3", "url": "https://www.uniprot.org/uniprotkb/Q91VA3" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91VA3", "url": "https://www.uniprot.org/uniprotkb/Q91VA3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91VA3", "url": "https://www.uniprot.org/uniprotkb/Q91VA3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q91VA3", "url": "https://www.uniprot.org/uniprotkb/Q91VA3" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q91VA3", "url": "https://www.uniprot.org/uniprotkb/Q91VA3" } ], "pmid": "" }, { "name": "calcium-dependent self proteolysis", "id": "GO:1990092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990092", "evidence": [ { "database": "UniProtKB", "id": "Q91VA3", "url": "https://www.uniprot.org/uniprotkb/Q91VA3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91VA3-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Cys105", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q91VA3", "url": "https://www.uniprot.org/uniprotkb/Q91VA3" }, { "database": "PubMed", "id": "17646163", "url": "https://glygen.org/publication/PubMed/17646163" } ] } ] } ], "record_id": "Q91VA3-1" }, { "uniprot_canonical_ac": "Q91WQ9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WQ9", "url": "https://www.uniprot.org/uniprotkb/Q91WQ9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 153, "chemical_mass": 17671.0, "gene_names": "Calml4;2010002G05Rik;Calml4", "protein_name": "Calmodulin-like protein 4", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91WQ9", "url": "https://www.uniprot.org/uniprotkb/Q91WQ9" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q91WQ9", "url": "https://www.uniprot.org/uniprotkb/Q91WQ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q91WQ9", "url": "https://www.uniprot.org/uniprotkb/Q91WQ9" } ], "pmid": "" }, { "name": "enzyme regulator activity", "id": "GO:0030234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030234", "evidence": [ { "database": "UniProtKB", "id": "Q91WQ9", "url": "https://www.uniprot.org/uniprotkb/Q91WQ9" } ], "pmid": "" }, { "name": "myosin head/neck binding", "id": "GO:0032028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032028", "evidence": [ { "database": "UniProtKB", "id": "Q91WQ9", "url": "https://www.uniprot.org/uniprotkb/Q91WQ9" } ], "pmid": "" } ], "biological_process": [ { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q91WQ9", "url": "https://www.uniprot.org/uniprotkb/Q91WQ9" } ], "pmid": "" }, { "name": "brush border assembly", "id": "GO:1904970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904970", "evidence": [ { "database": "UniProtKB", "id": "Q91WQ9", "url": "https://www.uniprot.org/uniprotkb/Q91WQ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91WQ9-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Thr45", "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": 45, "start_aa": "Thr", "end_pos": 45, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr45", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q91WQ9-1" }, { "uniprot_canonical_ac": "Q91ZW7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 208, "chemical_mass": 24389.0, "gene_names": "Cd209e;Cd209e;SIGNR4;mSIGNR4", "protein_name": "CD209 antigen-like protein E", "disease": [ { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "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. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "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: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. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "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: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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW7", "url": "https://www.uniprot.org/uniprotkb/Q91ZW7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ 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"database": "UniProtKB", "id": "Q8K4N3", "url": "https://www.uniprot.org/uniprotkb/Q8K4N3" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q8K4N3", "url": "https://www.uniprot.org/uniprotkb/Q8K4N3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K4N3-1" }, { "uniprot_canonical_ac": "Q70KL3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 74, "chemical_mass": 8552.0, "gene_names": "Defb39;BD-39;Defb39", "protein_name": "Beta-defensin 39", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "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": "Q70KL3", "url": "https://www.uniprot.org/uniprotkb/Q70KL3" } ], "pmid": "" }, { "name": "innate immune response in mucosa", "id": "GO:0002227", "url": 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"P50715-1" }, { "uniprot_canonical_ac": "P51656-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 344, "chemical_mass": 36785.0, "gene_names": "Hsd17b1;17HSDB1;17beta-HSD;E2DH;Edh17b1;Hsd17b1;Hsd17ba", "protein_name": "17-beta-hydroxysteroid dehydrogenase type 1", "disease": [ { "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 } ], "molecular_function": [ { "name": "17-beta-hydroxysteroid dehydrogenase (NADP+) activity", "id": "GO:0072582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072582", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "estradiol 17-beta-dehydrogenase [NAD(P)+] activity", "id": "GO:0004303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004303", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "small molecule binding", "id": "GO:0036094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036094", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "testosterone dehydrogenase (NAD+) activity", "id": "GO:0047035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047035", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "testosterone dehydrogenase (NADP+) activity", "id": "GO:0047045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047045", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "NADP+ binding", "id": "GO:0070401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070401", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "estradiol binding", "id": "GO:1903924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903924", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "estrogen biosynthetic process", "id": "GO:0006703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006703", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "testosterone biosynthetic process", "id": "GO:0061370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061370", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" }, { "name": "cellular response to metal ion", "id": "GO:0071248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071248", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P51656-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Ser135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51656", "url": "https://www.uniprot.org/uniprotkb/P51656" } ] } ] } ], "record_id": "P51656-1" }, { "uniprot_canonical_ac": "P56386-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 69, "chemical_mass": 7749.0, "gene_names": "Defb1;BD-1;Defb1", "protein_name": "Beta-defensin 1", "disease": [ { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "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: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: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: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: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: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: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": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "microvesicle", "id": "GO:1990742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990742", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" } ], "biological_process": [ { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "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": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "innate immune response in mucosa", "id": "GO:0002227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002227", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "positive regulation of flagellated sperm motility involved in capacitation", "id": "GO:0060474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060474", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" }, { "name": "CCR6 chemokine receptor binding", "id": "GO:0031731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031731", "evidence": [ { "database": "UniProtKB", "id": "P56386", "url": "https://www.uniprot.org/uniprotkb/P56386" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P56386-1" }, { "uniprot_canonical_ac": "P61804-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61804", "url": "https://www.uniprot.org/uniprotkb/P61804" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 113, "chemical_mass": 12497.0, "gene_names": "Dad1;Dad1", "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1", "disease": [], "molecular_function": [ { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": 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multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32.", "url": "https://disease-ontology.org/term/DOID:0070654", "evidence": [ { "id": "0070654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070654" } ], "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 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": 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"biological_process": [ { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "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": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "amyloid precursor protein catabolic process", "id": "GO:0042987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042987", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "sterol metabolic process", "id": "GO:0016125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016125", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "plasminogen activation", "id": "GO:0031639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031639", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "male genitalia development", "id": "GO:0030539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030539", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process via desmosterol", "id": "GO:0033489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033489", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process via lathosterol", "id": "GO:0033490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033490", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor", "id": "GO:0016628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016628", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "Delta24(24-1) sterol reductase activity", "id": "GO:0000246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000246", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" }, { "name": "Delta24-sterol reductase activity", "id": "GO:0050614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050614", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH6", "url": "https://www.uniprot.org/uniprotkb/Q8VCH6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VCH6-1" }, { "uniprot_canonical_ac": "Q8VHK9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1001, "chemical_mass": 113883.0, "gene_names": "Dhx36;2810407E23Rik;Ddx36;Dhx36;Kiaa1488;Mlel1;RHAU;mKIAA1488", "protein_name": "ATP-dependent DNA/RNA helicase DHX36", "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 transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of interferon-alpha production", "id": "GO:0032727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032727", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of cytoplasmic translation", "id": "GO:2000767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000767", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of cardioblast differentiation", "id": "GO:0051891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051891", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of intracellular mRNA localization", "id": "GO:1904582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904582", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "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": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:1900153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900153", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine morphogenesis", "id": "GO:0061003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061003", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of hematopoietic progenitor cell differentiation", "id": "GO:1901534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901534", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance via telomere lengthening", "id": "GO:1904358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904358", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of mRNA 3'-end processing", "id": "GO:0031442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031442", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase III", "id": "GO:0006359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006359", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "telomerase RNA stabilization", "id": "GO:0090669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090669", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "positive regulation of myeloid dendritic cell cytokine production", "id": "GO:0002735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002735", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "cellular response to arsenite ion", "id": "GO:1903843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903843", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "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": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "G-quadruplex RNA binding", "id": "GO:0002151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002151", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "ATP-dependent activity, acting on DNA", "id": "GO:0008094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008094", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "G-quadruplex DNA binding", "id": "GO:0051880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051880", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "pre-miRNA binding", "id": "GO:0070883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070883", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "mRNA 5'-UTR binding", "id": "GO:0048027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048027", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "telomerase RNA binding", "id": "GO:0070034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070034", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "mRNA 3'-UTR AU-rich region binding", "id": "GO:0035925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035925", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "catalytic activity, acting on a nucleic acid", "id": "GO:0140640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140640", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "G-quadruplex unwinding activity", "id": "GO:0160225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160225", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHK9-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "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": 33, "start_aa": "Ser", "end_pos": 33, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser33", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q8VHK9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHK9" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK9-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ser154", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK9-1", "start_pos": "956", "end_pos": "956", "site_lbl": "Ser956", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK9", "url": "https://www.uniprot.org/uniprotkb/Q8VHK9" } ] } ] }, { "uniprot_canonical_ac": "Q8VHK9-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Ile576", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IST->NST).", "chr_id": "3", "chr_pos": "62391618", "evidence": [ { "id": "rs3388634653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388634653" } ] } ] } ], "record_id": "Q8VHK9-1" }, { "uniprot_canonical_ac": "Q91V70-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91V70", "url": "https://www.uniprot.org/uniprotkb/Q91V70" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 71, "chemical_mass": 8292.0, "gene_names": "Defb7;BD-7;Defb7", "protein_name": "Beta-defensin 7", "disease": [ { "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 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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: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: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 } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q91V70", "url": "https://www.uniprot.org/uniprotkb/Q91V70" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "Q91V70", "url": "https://www.uniprot.org/uniprotkb/Q91V70" } ], "pmid": "" }, { "name": "CCR6 chemokine receptor binding", "id": "GO:0031731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031731", "evidence": [ { "database": "UniProtKB", "id": "Q91V70", "url": "https://www.uniprot.org/uniprotkb/Q91V70" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q91V70", "url": "https://www.uniprot.org/uniprotkb/Q91V70" } ], "pmid": "" } ], "biological_process": [ { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "Q91V70", "url": "https://www.uniprot.org/uniprotkb/Q91V70" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q91V70", "url": "https://www.uniprot.org/uniprotkb/Q91V70" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q91V70-1" }, { "uniprot_canonical_ac": "Q91VV4-1", "species": [ { "name": "Mus 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"name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "Q9DCP9", "url": "https://www.uniprot.org/uniprotkb/Q9DCP9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DCP9-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DCP9", "url": "https://www.uniprot.org/uniprotkb/Q9DCP9" } ] } ] } ], "record_id": "Q9DCP9-1" }, { "uniprot_canonical_ac": "Q9DCV6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCV6", "url": "https://www.uniprot.org/uniprotkb/Q9DCV6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 510, "chemical_mass": 55430.0, "gene_names": 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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:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "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: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. 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}, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], 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"https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "response to pain", "id": "GO:0048265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048265", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "regulation of pH", "id": "GO:0006885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006885", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "vein smooth muscle contraction", "id": "GO:0014826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014826", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "P48302", "url": "https://www.uniprot.org/uniprotkb/P48302" } ], "pmid": "" }, { "name": "heparin proteoglycan metabolic 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "response to acetylcholine", "id": "GO:1905144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905144", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "histamine secretion", "id": "GO:0001821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001821", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neural crest cell development", "id": "GO:0014032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014032", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neural crest cell differentiation", "id": "GO:0014033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014033", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051281", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "cellular response to toxic substance", "id": "GO:0097237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097237", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "artery smooth muscle contraction", "id": "GO:0014824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014824", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "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": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "norepinephrine metabolic process", "id": "GO:0042415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042415", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of cation channel activity", "id": "GO:2001259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001259", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "glomerulus development", "id": "GO:0032835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032835", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "vascular associated smooth muscle cell development", "id": "GO:0097084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097084", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "sodium ion homeostasis", "id": "GO:0055078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055078", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "fibroblast proliferation", "id": "GO:0048144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048144", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "smooth muscle cell proliferation", "id": "GO:0048659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048659", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "glomerular filtration", "id": "GO:0003094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003094", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "glomerular endothelium development", "id": "GO:0072011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072011", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "axonogenesis involved in innervation", "id": "GO:0060385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060385", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "neural crest cell fate commitment", "id": "GO:0014034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014034", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "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": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of odontogenesis", "id": "GO:0042482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042482", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "pharyngeal arch artery morphogenesis", "id": "GO:0061626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061626", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of kidney development", "id": "GO:0090184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090184", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "left ventricular cardiac muscle tissue morphogenesis", "id": "GO:0003220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003220", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "heparin proteoglycan metabolic process", "id": "GO:0030202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030202", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "Q61614", "url": "https://www.uniprot.org/uniprotkb/Q61614" } ], "pmid": "" }, { "name": "podocyte 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"species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2P8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2P8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 102, "chemical_mass": 11416.0, "gene_names": "Vamp5;Camp;Vamp5", "protein_name": "Vesicle-associated membrane protein 5", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2P8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2P8" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2P8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2P8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": 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"phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2P8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2P8" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z2P8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z2P8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z2P8-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2P8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2P8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z2P8-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2P8", "url": "https://www.uniprot.org/uniprotkb/Q9Z2P8" } ] } ] } ], "record_id": "Q9Z2P8-1" }, { "uniprot_canonical_ac": "Q91W86-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91W86", "url": "https://www.uniprot.org/uniprotkb/Q91W86" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 941, "chemical_mass": 107719.0, "gene_names": "Vps11;1200011A11Rik;Vps11", "protein_name": "Vacuolar protein sorting-associated protein 11 homolog", "disease": [ { "disease_id": "DOID:0050987", "name": "hypomyelinating leukoencephalopathy", "description": "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.", "url": "https://disease-ontology.org/term/DOID:0050987", "evidence": [ { "id": "0050987", "database": "AGR", "url": 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The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0060939", "evidence": [ { "id": "0060939", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060939" } ], "weight": 0.0 } ], "biological_process": [ { "name": "organelle fusion", "id": "GO:0048284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048284", "evidence": [ { "database": "UniProtKB", "id": "Q91W86", "url": "https://www.uniprot.org/uniprotkb/Q91W86" } ], "pmid": "" }, { "name": "regulation of organelle assembly", "id": "GO:1902115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902115", "evidence": [ { "database": "UniProtKB", "id": "Q91W86", "url": "https://www.uniprot.org/uniprotkb/Q91W86" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q91W86", "url": "https://www.uniprot.org/uniprotkb/Q91W86" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "Q91W86", "url": "https://www.uniprot.org/uniprotkb/Q91W86" } ], "pmid": "" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "Q91W86", "url": "https://www.uniprot.org/uniprotkb/Q91W86" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q91W86", "url": "https://www.uniprot.org/uniprotkb/Q91W86" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", 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"database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "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": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", 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"Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "insulin secretion", "id": "GO:0030073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030073", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": 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"https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "embryonic foregut morphogenesis", "id": "GO:0048617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048617", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "pericardium development", "id": "GO:0060039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060039", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": "https://www.uniprot.org/uniprotkb/Q62432" } ], "pmid": "" }, { "name": "trophoblast cell migration", "id": "GO:0061450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061450", "evidence": [ { "database": "UniProtKB", "id": "Q62432", "url": 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], "pmid": "" } ], "cellular_component": [ { "name": "exocyst", "id": "GO:0000145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000145", "evidence": [ { "database": "UniProtKB", "id": "Q6DIA2", "url": "https://www.uniprot.org/uniprotkb/Q6DIA2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6DIA2-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Ser515", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DIA2", "url": "https://www.uniprot.org/uniprotkb/Q6DIA2" } ] } ] } ], "record_id": "Q6DIA2-1" }, { "uniprot_canonical_ac": "Q6NSV7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6NSV7", "url": "https://www.uniprot.org/uniprotkb/Q6NSV7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 578, "chemical_mass": 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"Q8BQS4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BQS4", "url": "https://www.uniprot.org/uniprotkb/Q8BQS4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 339, "chemical_mass": 36514.0, "gene_names": "Eeig2;1600010D10Rik;B430201A12Rik;Eeig2;Fam102b", "protein_name": "EEIG family member 2", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BQS4-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Thr238", "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": 238, "start_aa": "Thr", "end_pos": 238, "end_aa": "Thr", 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"https://disease-ontology.org/term/DOID:2215", "evidence": [ { "id": "2215", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2215" } ], "weight": 0.0 }, { "disease_id": "DOID:2235", "name": "prothrombin deficiency", "description": "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.", "url": "https://disease-ontology.org/term/DOID:2235", "evidence": [ { "id": "2235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2235" } ], "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:2741", "name": "bilirubin metabolic disorder", "description": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.", "url": "https://disease-ontology.org/term/DOID:2741", "evidence": [ { "id": "2741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2741" } ], "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 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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:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "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: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: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: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: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: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:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "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": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546946367" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Asp260", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105464148", "evidence": [ { "id": "rs222181043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222181043" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Met308", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105465673", "evidence": [ { "id": "rs580619531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs580619531" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Ala311", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105465681", "evidence": [ { "id": "rs584371233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584371233" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Thr327", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105465728", "evidence": [ { "id": "rs39301914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs39301914" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Cys345", 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"uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Gly39", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105461367", "evidence": [ { "id": "rs3389003030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389003030" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Met414", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105466344", "evidence": [ { "id": "rs3546902978", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546902978" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "428", "end_pos": "428", "site_lbl": 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"dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251949172" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Met486", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105467432", "evidence": [ { "id": "rs220987109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220987109" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Asn496", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105467462", "evidence": [ { "id": "rs36318585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36318585" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Ser506", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105467888", "evidence": [ { "id": "rs583912833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583912833" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "512", "end_pos": "512", "site_lbl": "His512", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105467907", "evidence": [ { "id": "rs37125265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37125265" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Glu514", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105467911", "evidence": [ { "id": "rs3412839929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412839929" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Asp520", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105467929", "evidence": [ { "id": "rs232036511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232036511" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Gln522", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105467937", "evidence": [ { "id": "rs3389010377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389010377" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Pro523", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105467939", "evidence": [ { "id": "rs3388985137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388985137" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Lys52", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105461407", "evidence": [ { "id": "rs3389007481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389007481" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Ile545", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105468004", "evidence": [ { "id": "rs3388955629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388955629" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Gly550", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105468019", "evidence": [ { "id": "rs581421081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581421081" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Gln552", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105468025", "evidence": [ { "id": "rs3389001928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389001928" } ] } ] }, { "uniprot_canonical_ac": "Q8QZR3-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Leu70", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "8", "chr_pos": "105461461", "evidence": [ { "id": "rs585934177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585934177" } ] } ] 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P02762-1" }, { "uniprot_canonical_ac": "P03966-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P03966", "url": "https://www.uniprot.org/uniprotkb/P03966" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 462, "chemical_mass": 49572.0, "gene_names": "Mycn;Mycn;N-myc;Nmyc-1;Nmyc1;Nmyc;bHLHe37;c-nmyc", "protein_name": "N-myc proto-oncogene protein", "disease": [ { "disease_id": "DOID:0060464", "name": "Feingold syndrome", "description": "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.", "url": "https://disease-ontology.org/term/DOID:0060464", "evidence": [ { "id": "0060464", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060464" } ], "weight": 0.0 }, { 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10090, "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 575, "chemical_mass": 66250.0, "gene_names": "N4bp2l2;2700092H06Rik;Gm38758;N4bp2l2;Pfaap5;zag1", "protein_name": "NEDD4-binding protein 2-like 2", "disease": [], "biological_process": [ { "name": "negative regulation of hematopoietic stem cell differentiation", "id": "GO:1902037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902037", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "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": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" }, { "name": "in utero embryonic 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"transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8JZS6-1" }, { "uniprot_canonical_ac": "Q8R4H7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R4H7", "url": 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"Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1543, "chemical_mass": 173671.0, "gene_names": "Abcc2;Abc30;Abcc2;Cmoat;Mrp2;cMRP", "protein_name": "ATP-binding cassette sub-family C member 2", "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. 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"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": "mRNA metabolic process", "id": "GO:0016071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016071", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "intracellular chloride ion homeostasis", "id": "GO:0030644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030644", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "glutathione transport", "id": "GO:0034635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034635", "evidence": [ { "database": "UniProtKB", "id": 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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:8161", "name": "oncocytic carcinoma of the thyroid", "description": "A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli.", "url": "https://disease-ontology.org/term/DOID:8161", "evidence": [ { "id": "8161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8161" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": 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"pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "respiratory chain complex I", "id": "GO:0045271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045271", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "respiratory chain complex", "id": "GO:0098803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098803", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein insertion into mitochondrial inner membrane", "id": "GO:0045039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045039", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex I assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "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": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "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": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "Q9ERS2", "url": "https://www.uniprot.org/uniprotkb/Q9ERS2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9ERS2-1" }, { "uniprot_canonical_ac": "Q9QZZ4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3511, "chemical_mass": 395622.0, "gene_names": "Myo15a;Myo15a;Myo15;sh-2;sh2", "protein_name": "Unconventional myosin-XV", "disease": [ { "disease_id": "DOID:0110488", "name": "autosomal recessive nonsyndromic deafness 3", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11.", "url": "https://disease-ontology.org/term/DOID:0110488", "evidence": [ { "id": "0110488", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110488" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:1432", "name": "blindness", "description": "An eye disease characterized by a lack or loss of vision.", "url": "https://disease-ontology.org/term/DOID:1432", "evidence": [ { "id": "1432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1432" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "stereocilium bundle", "id": "GO:0032421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032421", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "actin-based cell projection", "id": "GO:0098858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098858", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QZZ4-1", "start_pos": "2498", "end_pos": "2498", "site_lbl": "Thr2498", "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": 2498, "start_aa": "Thr", "end_pos": 2498, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2498", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9QZZ4-1", "start_pos": "2635", "end_pos": "2635", "site_lbl": "Thr2635", "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": 2635, "start_aa": "Thr", "end_pos": 2635, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2635", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9QZZ4-1" }, { "uniprot_canonical_ac": "Q9WVP9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVP9", "url": "https://www.uniprot.org/uniprotkb/Q9WVP9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 655, "chemical_mass": 74292.0, "gene_names": "Mx2;Mx-2;Mx2", "protein_name": "Interferon-induced GTP-binding protein Mx2", "disease": [ { "disease_id": "DOID:0110197", "name": "Charcot-Marie-Tooth disease dominant intermediate B", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).", "url": "https://disease-ontology.org/term/DOID:0110197", "evidence": [ { "id": "0110197", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110197" } ], "weight": 0.0 }, { "disease_id": "DOID:0111223", "name": "centronuclear myopathy 1", "description": "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in 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"id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11252", "name": "microcytic anemia", "description": "An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear.", "url": "https://disease-ontology.org/term/DOID:11252", "evidence": [ { "id": "11252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11252" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.", "url": "https://disease-ontology.org/term/DOID:2476", "evidence": [ { "id": "2476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ], "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:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "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:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially 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"name": "axial mesodermal cell fate specification", "id": "GO:0048327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048327", "evidence": [ { "database": "UniProtKB", "id": "P43021", "url": "https://www.uniprot.org/uniprotkb/P43021" } ], "pmid": "" }, { "name": "left lung morphogenesis", "id": "GO:0060460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060460", "evidence": [ { "database": "UniProtKB", "id": "P43021", "url": "https://www.uniprot.org/uniprotkb/P43021" } ], "pmid": "" }, { "name": "epiblast cell-extraembryonic ectoderm cell signaling", "id": "GO:0060802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060802", "evidence": [ { "database": "UniProtKB", "id": "P43021", "url": "https://www.uniprot.org/uniprotkb/P43021" } ], "pmid": "" }, { "name": "primitive streak formation", "id": "GO:0090009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090009", "evidence": [ { "database": "UniProtKB", "id": "P43021", "url": "https://www.uniprot.org/uniprotkb/P43021" } ], "pmid": "" 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"database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "847", "end_pos": "847", "site_lbl": "Thr847", "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": 847, "start_aa": "Thr", "end_pos": 847, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr847", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q05793", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q05793" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q05793", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q05793" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Asn89", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G23294PN", "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": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2146", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2146" } ] }, { "glytoucan_ac": "G49955PK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ALVNFTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "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": "G60875AH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ALVNFTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "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": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "Q05793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q05793#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1116", "end_pos": "1116", "site_lbl": "Gly1116", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NTG->NTS); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247020", "evidence": [ { "id": "rs27576902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27576902" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ser242", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SSS->NSS); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238239", "evidence": [ { "id": "rs3388724310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724310" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "840", "end_pos": "840", "site_lbl": "Asp840", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DAC->NAC); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137244558", "evidence": [ { "id": "rs3388708965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708965" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1022", "end_pos": "1022", "site_lbl": "Ala1022", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246288", "evidence": [ { "id": "rs3388726903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388726903" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1027", "end_pos": "1027", "site_lbl": "Gln1027", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246302", "evidence": [ { "id": "rs3388724275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724275" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1063", "end_pos": "1063", "site_lbl": "Ala1063", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246501", "evidence": [ { "id": "rs217265499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217265499" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1076", "end_pos": "1076", "site_lbl": "His1076", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246539", "evidence": [ { "id": "rs3388715631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388715631" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1104", "end_pos": "1104", "site_lbl": "Gly1104", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246985", "evidence": [ { "id": "rs246743285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246743285" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1106", "end_pos": "1106", "site_lbl": "Ser1106", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246990", "evidence": [ { "id": "rs3388715657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388715657" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Glu110", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137235197", "evidence": [ { "id": "rs3388726906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388726906" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1121", "end_pos": "1121", "site_lbl": "Arg1121", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247036", "evidence": [ { "id": "rs3542938823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542938823" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1151", "end_pos": "1151", "site_lbl": "Leu1151", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247230", "evidence": [ { "id": "rs3388716656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716656" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1159", "end_pos": "1159", "site_lbl": "Cys1159", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247254", "evidence": [ { "id": "rs3388726878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388726878" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1186", "end_pos": "1186", "site_lbl": "Ser1186", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247426", "evidence": [ { "id": "rs3388715659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388715659" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1197", "end_pos": "1197", "site_lbl": "Asp1197", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247458", "evidence": [ { "id": "rs3388721872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721872" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1228", "end_pos": "1228", "site_lbl": "Thr1228", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247847", "evidence": [ { "id": "rs3388720701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720701" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1231", "end_pos": "1231", "site_lbl": "His1231", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247855", "evidence": [ { "id": "rs3542921109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542921109" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1270", "end_pos": "1270", "site_lbl": "Pro1270", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249064", "evidence": [ { "id": "rs3388721834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721834" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1280", "end_pos": "1280", "site_lbl": "His1280", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249095", "evidence": [ { "id": "rs3388717009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388717009" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1340", "end_pos": "1340", "site_lbl": "Ser1340", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249474", "evidence": [ { "id": "rs3388699936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388699936" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1357", "end_pos": "1357", "site_lbl": "Ala1357", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249809", "evidence": [ { "id": "rs259249050", "database": "dbSNP", "url": 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] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1404", "end_pos": "1404", "site_lbl": "Gln1404", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249950", "evidence": [ { "id": "rs3388716655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716655" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1424", "end_pos": "1424", "site_lbl": "Gly1424", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256165", "evidence": [ { "id": "rs3413053169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413053169" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1451", "end_pos": "1451", "site_lbl": "Leu1451", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256511", "evidence": [ { "id": "rs3388721837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721837" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1452", "end_pos": "1452", "site_lbl": "Gln1452", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256514", "evidence": [ { "id": "rs3388720713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720713" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1475", "end_pos": "1475", "site_lbl": "Pro1475", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256681", "evidence": [ { "id": "rs5526867317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526867317" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1504", "end_pos": "1504", "site_lbl": "Ala1504", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256768", "evidence": [ { "id": "rs3388729260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388729260" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1505", "end_pos": "1505", "site_lbl": "Ser1505", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256773", "evidence": [ { "id": "rs3388719377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719377" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1510", "end_pos": "1510", "site_lbl": "Ser1510", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256787", "evidence": [ { "id": "rs3388709002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388709002" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1520", "end_pos": "1520", "site_lbl": "Ser1520", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256817", "evidence": [ { "id": "rs3388716626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716626" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1537", "end_pos": "1537", "site_lbl": "Val1537", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256867", "evidence": [ { "id": "rs3388723058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388723058" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1546", "end_pos": "1546", "site_lbl": "Pro1546", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137258944", "evidence": [ { "id": "rs3388729320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388729320" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1549", "end_pos": "1549", "site_lbl": "Thr1549", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137258954", "evidence": [ { "id": "rs3388724323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724323" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1561", "end_pos": "1561", "site_lbl": "Glu1561", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137258991", "evidence": [ { "id": "rs3388711408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711408" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1570", "end_pos": "1570", "site_lbl": "Asp1570", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137259018", "evidence": [ { "id": "rs253983275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253983275" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1574", "end_pos": "1574", "site_lbl": "Pro1574", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137259029", "evidence": [ { "id": "rs3388720717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720717" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1583", "end_pos": "1583", "site_lbl": "Gln1583", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137260749", "evidence": [ { "id": "rs3388716681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716681" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1607", "end_pos": "1607", "site_lbl": "Pro1607", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137260822", "evidence": [ { "id": "rs3388699973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388699973" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1620", "end_pos": "1620", "site_lbl": "Pro1620", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137260860", "evidence": [ { "id": "rs3413087363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413087363" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Glu163", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137235688", "evidence": [ { "id": "rs249640830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249640830" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1651", "end_pos": "1651", "site_lbl": "Glu1651", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137261060", "evidence": [ { "id": "rs3388716996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716996" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1665", "end_pos": "1665", "site_lbl": "Gly1665", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262472", "evidence": [ { "id": "rs3388716665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716665" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1666", "end_pos": "1666", "site_lbl": "Gly1666", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262475", "evidence": [ { "id": "rs3395000167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395000167" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1673", "end_pos": "1673", "site_lbl": "Lys1673", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262654", "evidence": [ { "id": "rs3394971550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394971550" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1677", "end_pos": "1677", "site_lbl": "Glu1677", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262668", "evidence": [ { "id": "rs250549994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250549994" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137235701", "evidence": [ { "id": "rs3388723022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388723022" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1688", "end_pos": "1688", "site_lbl": "Pro1688", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262700", "evidence": [ { "id": "rs3388723025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388723025" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1689", "end_pos": "1689", "site_lbl": "Gln1689", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262702", "evidence": [ { "id": "rs3388719305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719305" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137252422", "evidence": [ { "id": "rs238833758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238833758" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1721", "end_pos": "1721", "site_lbl": "Ala1721", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262798", "evidence": [ { "id": "rs5526904838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526904838" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1739", "end_pos": "1739", "site_lbl": "Asp1739", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262966", "evidence": [ { "id": "rs3388717081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388717081" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1750", "end_pos": "1750", "site_lbl": "Leu1750", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137263000", "evidence": [ { "id": "rs3388715639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388715639" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1770", "end_pos": "1770", "site_lbl": "Ile1770", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137265514", "evidence": [ { "id": "rs27576816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27576816" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1803", "end_pos": "1803", "site_lbl": "Leu1803", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137265697", "evidence": [ { "id": "rs3388711412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711412" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1857", "end_pos": "1857", "site_lbl": "Gln1857", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137265859", "evidence": [ { "id": "rs3388708999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708999" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1866", "end_pos": "1866", "site_lbl": "Val1866", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266436", "evidence": [ { "id": "rs3388724576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724576" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1870", "end_pos": "1870", "site_lbl": "His1870", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266449", "evidence": [ { "id": "rs3388720681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720681" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1886", "end_pos": "1886", "site_lbl": "Cys1886", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266496", "evidence": [ { "id": "rs3388724603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724603" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1888", "end_pos": "1888", "site_lbl": "Ala1888", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266502", "evidence": [ { "id": "rs3388724331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724331" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Gly190", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137235769", "evidence": [ { "id": "rs3394952000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394952000" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Thr191", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137235772", "evidence": [ { "id": "rs3394952009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394952009" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1921", "end_pos": "1921", "site_lbl": "Ala1921", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266675", "evidence": [ { "id": "rs217052225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217052225" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1939", "end_pos": "1939", "site_lbl": "Gly1939", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266728", "evidence": [ { "id": "rs3388729324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388729324" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1955", "end_pos": "1955", "site_lbl": "Pro1955", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266859", "evidence": [ { "id": "rs3388723441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388723441" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1975", "end_pos": "1975", "site_lbl": "Tyr1975", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266921", "evidence": [ { "id": "rs3388719343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719343" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1981", "end_pos": "1981", "site_lbl": "Val1981", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266937", "evidence": [ { "id": "rs3388716635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716635" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1984", "end_pos": "1984", "site_lbl": "Ala1984", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266947", "evidence": [ { "id": "rs3388720686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720686" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2032", "end_pos": "2032", "site_lbl": "Thr2032", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137267382", "evidence": [ { "id": "rs3394971535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394971535" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2181", "end_pos": "2181", "site_lbl": "Thr2181", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137268823", "evidence": [ { "id": "rs3388717030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388717030" } ] }, { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137268824", "evidence": [ { "id": "rs3388720741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720741" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2231", "end_pos": "2231", "site_lbl": "Thr2231", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137269061", "evidence": [ { "id": "rs3388726897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388726897" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2296", "end_pos": "2296", "site_lbl": "Ser2296", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137269857", "evidence": [ { "id": "rs3542912474", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542912474" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2306", "end_pos": "2306", "site_lbl": "Ala2306", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137269868", "evidence": [ { "id": "rs228400219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228400219" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2323", "end_pos": "2323", "site_lbl": "His2323", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137269939", "evidence": [ { "id": "rs215399322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215399322" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2449", "end_pos": "2449", "site_lbl": "Gly2449", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137271209", "evidence": [ { "id": "rs213864811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213864811" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2468", "end_pos": "2468", "site_lbl": "Trp2468", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137271266", "evidence": [ { "id": "rs3395000156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395000156" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2630", "end_pos": "2630", "site_lbl": "Ser2630", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137272868", "evidence": [ { "id": "rs3388708923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708923" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2663", "end_pos": "2663", "site_lbl": "Lys2663", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137272949", "evidence": [ { "id": "rs3388729256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388729256" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Thr269", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238320", "evidence": [ { "id": "rs5526904544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526904544" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2751", "end_pos": "2751", "site_lbl": "His2751", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137275426", "evidence": [ { "id": "rs3543011026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543011026" } ] }, { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137275424", "evidence": [ { "id": "rs3543010973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543010973" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2772", "end_pos": "2772", "site_lbl": "Leu2772", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137275678", "evidence": [ { "id": "rs3388715677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388715677" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2844", "end_pos": "2844", "site_lbl": "Ser2844", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137276912", "evidence": [ { "id": "rs27576768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27576768" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Arg300", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238413", "evidence": [ { "id": "rs5526789427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526789427" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "3097", "end_pos": "3097", "site_lbl": "Val3097", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137279232", "evidence": [ { "id": "rs3388711385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711385" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "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, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238464", "evidence": [ { "id": "rs3388726858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388726858" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Glu329", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238583", "evidence": [ { "id": "rs3388700006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388700006" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Phe330", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238586", "evidence": [ { "id": "rs3388724569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724569" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Leu339", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238613", "evidence": [ { "id": "rs3388719387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719387" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "3499", "end_pos": "3499", "site_lbl": "Gly3499", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137284538", "evidence": [ { "id": "rs3542867993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542867993" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Val361", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239155", "evidence": [ { "id": "rs214011505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214011505" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Pro364", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239165", "evidence": [ { "id": "rs3388720738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720738" } ] }, { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239165", "evidence": [ { "id": "rs3388720738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720738" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Asp389", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239239", "evidence": [ { "id": "rs3388699935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388699935" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Cys394", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239254", "evidence": [ { "id": "rs3388724278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724278" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Gln413", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239442", "evidence": [ { "id": "rs3388711363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711363" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Val433", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239500", "evidence": [ { "id": "rs3388721906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721906" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Asn439", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239518", "evidence": [ { "id": "rs3388716678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716678" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Gly462", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239679", "evidence": [ { "id": "rs3395071189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395071189" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Glu480", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239732", "evidence": [ { "id": "rs3388721914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721914" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Pro547", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137240073", "evidence": [ { "id": "rs221166295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221166295" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "585", "end_pos": "585", "site_lbl": "Leu585", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242021", "evidence": [ { "id": "rs3388721916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721916" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Asp608", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242609", "evidence": [ { "id": "rs3388724600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724600" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Ser609", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242611", "evidence": [ { "id": "rs3388716598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716598" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Val635", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242690", "evidence": [ { "id": "rs3388723015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388723015" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Arg643", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242713", "evidence": [ 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intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "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: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: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:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "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:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "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: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: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: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:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "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:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "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: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: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: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: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: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: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: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: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: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: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: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: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: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: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:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.", "url": "https://disease-ontology.org/term/DOID:3627", "evidence": [ { "id": "3627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ], "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:3891", "name": "placental insufficiency", "description": "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.", "url": "https://disease-ontology.org/term/DOID:3891", "evidence": [ { "id": "3891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3891" } ], "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: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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "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:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "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: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: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:74", "name": "hematopoietic system disease", "description": "A disease of anatomical entity that has_material_basis_in hematopoietic cells.", "url": "https://disease-ontology.org/term/DOID:74", "evidence": [ { "id": "74", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:74" } ], "weight": 0.0 }, { "disease_id": "DOID:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "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: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:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "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: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:9120", "name": "amyloidosis", "description": "A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.", "url": "https://disease-ontology.org/term/DOID:9120", "evidence": [ { "id": "9120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9120" } ], "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 } ], "biological_process": [ { "name": "dentinogenesis", "id": "GO:0097187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097187", "evidence": [ { "database": "UniProtKB", "id": "P22777", "url": "https://www.uniprot.org/uniprotkb/P22777" } ], "pmid": "" }, { "name": "positive regulation of odontoblast differentiation", "id": "GO:1901331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901331", "evidence": [ { "database": "UniProtKB", "id": "P22777", "url": "https://www.uniprot.org/uniprotkb/P22777" } ], "pmid": "" }, { "name": "positive regulation of leukotriene production involved in inflammatory response", "id": "GO:0035491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035491", "evidence": [ { "database": "UniProtKB", "id": "P22777", "url": "https://www.uniprot.org/uniprotkb/P22777" } ], "pmid": "" }, { 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"name": "positive regulation of substance P secretion", "id": "GO:1904460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904460", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "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": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "regulation of norepinephrine secretion", "id": "GO:0014061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014061", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "negative regulation of mucus secretion", "id": "GO:0070256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070256", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "positive regulation of neutrophil extravasation", "id": "GO:2000391", "url": 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"Thr", "site_lbl": "Thr333", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "P57722", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P57722" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "P57722-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Asn349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G70696MD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QITITGTPANISLAQYLINAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 349, "start_aa": "Asn", "end_pos": 349, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn349", "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": "P57722-1" }, { "uniprot_canonical_ac": "P70453-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 456, "chemical_mass": 52486.0, "gene_names": "Pde7a;Pde7a", "protein_name": "High affinity 3',5'-cyclic-AMP phosphodiesterase 7A", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" }, { "name": "cAMP catabolic process", "id": "GO:0006198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006198", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" }, { "name": "negative regulation of cAMP/PKA signal transduction", "id": "GO:0141162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141162", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" }, { "name": "3',5'-cyclic-GMP phosphodiesterase activity", "id": "GO:0047555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047555", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" }, { "name": "cyclic-nucleotide phosphodiesterase activity", "id": "GO:0004112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004112", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" }, { "name": "3',5'-cyclic-AMP phosphodiesterase activity", "id": "GO:0004115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004115", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P70453-1" }, { "uniprot_canonical_ac": "Q02242-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 288, "chemical_mass": 31842.0, "gene_names": "Pdcd1;Ly101;PD-1;Pd1;Pdc1;Pdcd1", "protein_name": "Programmed cell death protein 1", "disease": [ { "disease_id": "DOID:0061163", "name": "infantile onset multisystem autoimmune disease 4", "description": "An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0061163", "evidence": [ { "id": "0061163", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061163" } ], "weight": 0.0 }, { "disease_id": "DOID:0080159", "name": "Cryptococcal meningitis", "description": "A fungal meningitis that has_material_basis_in Crypococcus fungal infection.", "url": "https://disease-ontology.org/term/DOID:0080159", "evidence": [ { "id": "0080159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080159" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "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: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: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:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected 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:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "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: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: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:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:2237", "name": "hepatitis", "description": "A liver disease that is characterized as an inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:2237", "evidence": [ { "id": "2237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2237" } ], "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: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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "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:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "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: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: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: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: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 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "adaptive immune response", "id": 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"name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "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": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": 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"name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "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": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "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": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "neural crest cell differentiation", "id": "GO:0014033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014033", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "positive regulation of branching involved in ureteric bud morphogenesis", "id": "GO:0090190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090190", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "otic vesicle development", "id": "GO:0071599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071599", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of skeletal muscle satellite cell proliferation", "id": "GO:0014842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014842", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "myoblast migration", "id": "GO:0051451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051451", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "positive regulation of brown fat cell differentiation", "id": "GO:0090336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090336", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "mesonephric tubule formation", "id": "GO:0072172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072172", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "cellular response to 3,3',5-triiodo-L-thyronine", "id": "GO:1905243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905243", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "facial nerve morphogenesis", "id": "GO:0021610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021610", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": 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"", "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: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: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, 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"evidence": [ { "database": "UniProtKB", "id": "P07934", "url": "https://www.uniprot.org/uniprotkb/P07934" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P07934", "url": "https://www.uniprot.org/uniprotkb/P07934" } ], "pmid": "" } ], "cellular_component": [ { "name": "phosphorylase kinase complex", "id": "GO:0005964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005964", "evidence": [ { "database": "UniProtKB", "id": "P07934", "url": "https://www.uniprot.org/uniprotkb/P07934" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P07934", "url": "https://www.uniprot.org/uniprotkb/P07934" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P07934", "url": "https://www.uniprot.org/uniprotkb/P07934" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P07934", "url": "https://www.uniprot.org/uniprotkb/P07934" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "P07934", "url": "https://www.uniprot.org/uniprotkb/P07934" } ], "pmid": "" }, { "name": "glycogen catabolic process", "id": "GO:0005980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005980", "evidence": [ { "database": "UniProtKB", "id": "P07934", "url": "https://www.uniprot.org/uniprotkb/P07934" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P07934-1" }, { "uniprot_canonical_ac": "Q8K0S0-1", "species": [ { "name": "Mus 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"database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q8K0S0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K0S0" } ] } ] }, { "uniprot_canonical_ac": "Q8K0S0-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Asn325", "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": "TCNISVGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 325, "start_aa": "Asn", "end_pos": 325, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn325", "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": 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"Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 413, "chemical_mass": 45772.0, "gene_names": "Pnpla3;Adpn;Pnpla3", "protein_name": "1-acylglycerol-3-phosphate O-acyltransferase Pnpla3", "disease": [ { "disease_id": "DOID:0050729", "name": "Chanarin-Dorfman syndrome", "description": "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.", "url": "https://disease-ontology.org/term/DOID:0050729", "evidence": [ { "id": "0050729", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050729" } ], "weight": 0.0 }, { "disease_id": "DOID:0060158", "name": "acquired metabolic disease", "description": "A disease of metabolism that has_material_basis_in enzyme deficiency or 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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 } ], "biological_process": [ { "name": "glycerophospholipid metabolic process", "id": "GO:0006650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006650", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "phosphatidic acid biosynthetic process", "id": "GO:0006654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006654", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "triglyceride catabolic process", "id": "GO:0019433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019433", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "response to dietary excess", "id": "GO:0002021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002021", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "lipid droplet organization", "id": "GO:0034389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034389", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "triglyceride acyl-chain remodeling", "id": "GO:0036153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036153", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "white fat cell differentiation", "id": "GO:0050872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050872", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "response to sucrose", "id": "GO:0009744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009744", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "cellular response to 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"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": "G64527OM", "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": 66, "start_aa": "Asn", "end_pos": 66, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn66", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2609", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2609" } ] }, { "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": 66, "start_aa": "Asn", "end_pos": 66, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn66", "evidence": [ { "id": "Q9R0E1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0E1#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Leu139", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137017493", "evidence": [ { "id": "rs3388802489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388802489" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Val160", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137017556", "evidence": [ { "id": "rs3388794839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388794839" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Lys164", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137017568", "evidence": [ { "id": "rs3388806928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806928" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Gly171", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137023941", "evidence": [ { "id": "rs249533423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249533423" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Tyr202", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137017830", "evidence": [ { "id": "rs3396113483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396113483" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Gly206", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137017841", "evidence": [ { "id": "rs3388770080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388770080" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ile233", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137018460", "evidence": [ { "id": "rs216116551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216116551" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Pro278", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137018796", "evidence": [ { "id": "rs3388794903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388794903" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Pro298", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019008", "evidence": [ { "id": "rs3388803510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388803510" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Val301", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019017", "evidence": [ { "id": "rs3388802495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388802495" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Thr311", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019048", "evidence": [ { "id": "rs3388797048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797048" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Leu318", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019069", "evidence": [ { "id": "rs3388784858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388784858" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Leu335", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019119", "evidence": [ { "id": "rs3388781961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388781961" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Ala359", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019332", "evidence": [ { "id": "rs216568936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216568936" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Gly364", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019347", "evidence": [ { "id": "rs3388800243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388800243" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ala36", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137016645", "evidence": [ { "id": "rs244110790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244110790" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Asp380", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019600", "evidence": [ { "id": "rs3388782012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388782012" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Arg383", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019609", "evidence": [ { "id": "rs3388806921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806921" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Gln412", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019698", "evidence": [ { "id": "rs3388801218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801218" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Pro437", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019881", "evidence": [ { "id": "rs3388800299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388800299" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ser522", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137020452", "evidence": [ { "id": "rs3388801217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801217" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Met587", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137022130", "evidence": [ { "id": "rs3388802505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388802505" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "597", "end_pos": "597", "site_lbl": "Arg597", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137022160", "evidence": [ { "id": "rs3388801181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801181" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Ala604", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137023010", "evidence": [ { "id": "rs3388794142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388794142" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Gln625", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137023072", "evidence": [ { "id": "rs3388802471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388802471" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "632", "end_pos": "632", "site_lbl": "Thr632", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137023094", "evidence": [ { "id": "rs3388784831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388784831" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "647", "end_pos": "647", "site_lbl": "Thr647", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137023139", "evidence": [ { "id": "rs3388801442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801442" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Val69", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137017057", "evidence": [ { "id": "rs3388784877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388784877" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Asp700", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137024989", "evidence": [ { "id": "rs3388802467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388802467" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Asp672", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of lysyl hydroxylase activity. No effect on glycosyltransferase activity. Mutant mice are born at the expected Mendelian rate and have no visible phenotype, excepting decreased hydroxylysine modifications in type IV collagens in the skin.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E1", "url": "https://www.uniprot.org/uniprotkb/Q9R0E1" }, { "database": "PubMed", "id": "16467571", "url": "https://glygen.org/publication/PubMed/16467571" } ] } ] } ], "record_id": "Q9R0E1-1" }, { "uniprot_canonical_ac": "P11247-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 718, "chemical_mass": 81182.0, "gene_names": "Mpo;Mpo;mKIAA4033", "protein_name": "Myeloperoxidase", "disease": [ { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080348", "name": "Alzheimer's disease 1", "description": "An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.", "url": "https://disease-ontology.org/term/DOID:0080348", "evidence": [ { "id": "0080348", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080348" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, 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: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: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:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "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: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. 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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. 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: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 }, { "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: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:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:865" } ], "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:9362", "name": "status asthmaticus", "description": "An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant.", "url": "https://disease-ontology.org/term/DOID:9362", "evidence": [ { "id": "9362", "database": "AGR", "url": 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{ "uniprot_canonical_ac": "Q61469-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ala272", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "113004064", "evidence": [ { "id": "rs3389315575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389315575" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Arg275", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "113004074", "evidence": [ { "id": "rs233140358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233140358" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Thr28", 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"id": "rs259067583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259067583" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Phe34", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "112987979", "evidence": [ { "id": "rs3389260206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389260206" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Pro55", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "112988041", "evidence": [ { "id": "rs3389302150", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q61469-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Ser78", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "112993302", "evidence": [ { "id": "rs3389300013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300013" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Leu106", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Decreased lipid phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61469", "url": "https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": "https://glygen.org/publication/PubMed/10620492" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Thr116", "weight": 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"https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": "https://glygen.org/publication/PubMed/10620492" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Tyr168", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Decreased lipid phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61469", "url": "https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": "https://glygen.org/publication/PubMed/10620492" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Ser169", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Loss of lipid phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61469", "url": "https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": 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"end_pos": "223", "site_lbl": "His223", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Loss of lipid phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61469", "url": "https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": "https://glygen.org/publication/PubMed/10620492" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ile233", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "No significant effect on lipid phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61469", "url": "https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": "https://glygen.org/publication/PubMed/10620492" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Asn276", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "No effect on lipid phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61469", "url": "https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": "https://glygen.org/publication/PubMed/10620492" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Thr5", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Decreased lipid phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61469", "url": "https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": "https://glygen.org/publication/PubMed/10620492" } ] } ] } ], "record_id": "Q61469-1" }, { "uniprot_canonical_ac": "Q7M6Y3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 660, "chemical_mass": 71543.0, "gene_names": "Picalm;CALM;CLTH;Calm;Fit1;PAP180;Picalm;fit-1;fit1;mKIAA4114", "protein_name": "Phosphatidylinositol-binding clathrin assembly protein", "disease": [ { "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": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "positive regulation of dendrite extension", "id": "GO:1903861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903861", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "membrane bending", "id": "GO:0097753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097753", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "regulation of protein transport", "id": "GO:0051223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051223", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "positive regulation of synaptic vesicle endocytosis", "id": "GO:1900244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900244", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "regulation of terminal button organization", "id": "GO:2000331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000331", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } 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"uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Leu191", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763514", "evidence": [ { "id": "rs213625865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213625865" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Phe201", "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": "31763544", "evidence": [ { "id": "rs3389372476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389372476" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Leu211", 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"uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Ala315", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763886", "evidence": [ { "id": "rs261091341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261091341" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Arg318", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763895", "evidence": [ { "id": "rs32545369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32545369" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Arg327", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763923", "evidence": [ { "id": "rs3389414987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389414987" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Arg332", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763937", "evidence": [ { "id": "rs218214110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218214110" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Leu352", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline 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"chr_pos": "31764099", "evidence": [ { "id": "rs3389403704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389403704" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "429", "end_pos": "429", "site_lbl": "His429", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31764230", "evidence": [ { "id": "rs3389360151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389360151" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Arg465", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31764336", "evidence": [ { "id": "rs248200065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248200065" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Pro57", "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": "31761359", "evidence": [ { "id": "rs258859816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258859816" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763112", "evidence": [ { "id": "rs3406818228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406818228" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ala5", "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": "31760814", "evidence": [ { "id": "rs246001207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246001207" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31760813", "evidence": [ { "id": "rs224433776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224433776" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Cys61", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763125", "evidence": [ { "id": "rs3389417962", "database": "dbSNP", "url": 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"Q8BTP0-1" }, { "uniprot_canonical_ac": "Q8BVM9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BVM9", "url": "https://www.uniprot.org/uniprotkb/Q8BVM9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 293, "chemical_mass": 32673.0, "gene_names": "Phf11a;4933417L10Rik;Phf11-4;Phf11a;Phf11l;Phf11", "protein_name": "PHD finger protein 11A", "disease": [ { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect 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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: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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BVM9", "url": 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"78748544", "evidence": [ { "id": "rs224543094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224543094" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ala111", "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": "7", "chr_pos": "78734475", "evidence": [ { "id": "rs3388919772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919772" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1123", "end_pos": "1123", "site_lbl": "Gly1123", "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": "7", "chr_pos": "78748598", "evidence": [ { "id": "rs3388920112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920112" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1125", "end_pos": "1125", "site_lbl": "Glu1125", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748603", "evidence": [ { "id": "rs3388916371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916371" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1128", "end_pos": "1128", "site_lbl": "Ser1128", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748613", "evidence": [ { "id": "rs3388906701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906701" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1130", "end_pos": "1130", "site_lbl": "Leu1130", "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": "7", "chr_pos": "78748618", "evidence": [ { "id": "rs3388906764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906764" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1135", "end_pos": "1135", "site_lbl": "Glu1135", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748635", "evidence": [ { "id": "rs37527706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37527706" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1139", "end_pos": "1139", "site_lbl": "Thr1139", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748646", "evidence": [ { "id": "rs243220994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243220994" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1140", "end_pos": "1140", "site_lbl": "Ser1140", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748649", "evidence": [ { "id": "rs3388916392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916392" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1149", "end_pos": "1149", "site_lbl": "Pro1149", "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": "7", "chr_pos": "78748676", "evidence": [ { "id": "rs36710345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36710345" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ser114", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78734484", "evidence": [ { "id": "rs3388920051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920051" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1151", "end_pos": "1151", "site_lbl": "Thr1151", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748681", "evidence": [ { "id": "rs255978889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255978889" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1178", "end_pos": "1178", "site_lbl": "Val1178", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748763", "evidence": [ { "id": "rs215585746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215585746" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1240", "end_pos": "1240", "site_lbl": "Glu1240", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748948", "evidence": [ { "id": "rs3388916594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916594" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1241", "end_pos": "1241", "site_lbl": "Val1241", "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": "7", "chr_pos": "78748952", "evidence": [ { "id": "rs32400885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32400885" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1242", "end_pos": "1242", "site_lbl": "Asn1242", "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": "7", "chr_pos": "78748955", "evidence": [ { "id": "rs31327907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31327907" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Arg124", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78734515", "evidence": [ { "id": "rs3388920056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920056" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1257", "end_pos": "1257", "site_lbl": "Ile1257", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749000", "evidence": [ { "id": "rs229931309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229931309" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1286", "end_pos": "1286", "site_lbl": "Val1286", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749086", "evidence": [ { "id": "rs3388919736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919736" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749086", "evidence": [ { "id": "rs3388919736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919736" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1293", "end_pos": "1293", "site_lbl": "Thr1293", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749108", "evidence": [ { "id": "rs3398131324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398131324" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1308", "end_pos": "1308", "site_lbl": "Ser1308", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749152", "evidence": [ { "id": "rs37180682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37180682" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749152", "evidence": [ { "id": "rs37180682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37180682" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1316", "end_pos": "1316", "site_lbl": "Leu1316", "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": "7", "chr_pos": "78749176", "evidence": [ { "id": "rs3388923229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923229" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1323", "end_pos": "1323", "site_lbl": "Ala1323", "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": "7", "chr_pos": "78749198", "evidence": [ { "id": "rs37664302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37664302" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1344", "end_pos": "1344", "site_lbl": "Ser1344", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749261", "evidence": [ { "id": "rs32439390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32439390" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1345", "end_pos": "1345", "site_lbl": "Ser1345", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749265", "evidence": [ { "id": "rs38835844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38835844" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1347", "end_pos": "1347", "site_lbl": "Glu1347", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749270", "evidence": [ { "id": "rs3388898535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898535" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1353", "end_pos": "1353", "site_lbl": "Asp1353", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749287", "evidence": [ { "id": "rs261453014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261453014" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1364", "end_pos": "1364", "site_lbl": "Val1364", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749320", "evidence": [ { "id": "rs224576375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224576375" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1367", "end_pos": "1367", "site_lbl": "Glu1367", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749330", "evidence": [ { "id": "rs238445469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238445469" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1371", "end_pos": "1371", "site_lbl": "Ile1371", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749342", "evidence": [ { "id": "rs3388920259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920259" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1387", "end_pos": "1387", "site_lbl": "Thr1387", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749390", "evidence": [ { "id": "rs5528145751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5528145751" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1391", "end_pos": "1391", "site_lbl": "Thr1391", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749401", "evidence": [ { "id": "rs261793823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261793823" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1397", "end_pos": "1397", "site_lbl": "Ser1397", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749419", "evidence": [ { "id": "rs3398304755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398304755" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749419", "evidence": [ { "id": "rs3398304755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398304755" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Glu140", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78734563", "evidence": [ { "id": "rs3388898443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898443" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1462", "end_pos": "1462", "site_lbl": "Gly1462", "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": "7", "chr_pos": "78749615", "evidence": [ { "id": "rs3388923311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923311" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ile149", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78734591", "evidence": [ { "id": "rs5528131549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5528131549" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1514", "end_pos": "1514", "site_lbl": "Glu1514", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749771", "evidence": [ { "id": "rs32085027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32085027" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1559", "end_pos": "1559", "site_lbl": "Ala1559", "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": "7", "chr_pos": "78749906", "evidence": [ { "id": "rs46312921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46312921" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1587", "end_pos": "1587", "site_lbl": "Pro1587", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749989", "evidence": [ { "id": "rs3388916351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916351" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1626", "end_pos": "1626", "site_lbl": "Gln1626", "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": "7", "chr_pos": "78750106", "evidence": [ { "id": "rs3388917718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388917718" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1632", "end_pos": "1632", "site_lbl": "Thr1632", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750124", "evidence": [ { "id": "rs255575237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255575237" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Tyr164", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78736046", "evidence": [ { "id": "rs3388892088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388892088" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1651", "end_pos": "1651", "site_lbl": "Asp1651", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750181", "evidence": [ { "id": "rs3388898494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898494" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1662", "end_pos": "1662", "site_lbl": "Gly1662", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750215", "evidence": [ { "id": "rs218393036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218393036" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1664", "end_pos": "1664", "site_lbl": "Gly1664", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750220", "evidence": [ { "id": "rs3388919761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919761" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1696", "end_pos": "1696", "site_lbl": "Pro1696", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750316", "evidence": [ { "id": "rs3388920040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920040" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1700", "end_pos": "1700", "site_lbl": "Tyr1700", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750328", "evidence": [ { "id": "rs36891928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36891928" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1703", "end_pos": "1703", "site_lbl": "Arg1703", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750338", "evidence": [ { "id": "rs47696513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47696513" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1708", "end_pos": "1708", "site_lbl": "Ser1708", "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": "7", "chr_pos": "78750353", "evidence": [ { "id": "rs3398198814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398198814" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1711", "end_pos": "1711", "site_lbl": "Ala1711", "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": "7", "chr_pos": "78750361", "evidence": [ { "id": "rs48938013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48938013" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1714", "end_pos": "1714", "site_lbl": "Ser1714", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750370", "evidence": [ { "id": "rs3398198828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398198828" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1722", "end_pos": "1722", "site_lbl": "Thr1722", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750394", "evidence": [ { "id": "rs3388916357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916357" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1727", "end_pos": "1727", "site_lbl": "Ser1727", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750409", "evidence": [ { "id": "rs3398124653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398124653" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1729", "end_pos": "1729", "site_lbl": "Ile1729", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750415", "evidence": [ { "id": "rs48571987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48571987" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1739", "end_pos": "1739", "site_lbl": "Asp1739", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750446", "evidence": [ { "id": "rs3388920047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920047" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1746", "end_pos": "1746", "site_lbl": "Ala1746", "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": "7", "chr_pos": "78750467", "evidence": [ { "id": "rs3397751156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397751156" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1747", "end_pos": "1747", "site_lbl": "Gly1747", "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": "7", "chr_pos": "78750470", "evidence": [ { "id": "rs3388920231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920231" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1751", "end_pos": "1751", "site_lbl": "Ser1751", "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": "7", "chr_pos": "78750481", "evidence": [ { "id": "rs3388919821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919821" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1769", "end_pos": "1769", "site_lbl": "Ile1769", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750535", "evidence": [ { "id": "rs3388898516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898516" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Leu176", "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": "7", "chr_pos": "78736081", "evidence": [ { "id": "rs3388916549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916549" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1780", "end_pos": "1780", "site_lbl": "Met1780", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750568", "evidence": [ { "id": "rs3398124701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398124701" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1795", "end_pos": "1795", "site_lbl": "Gln1795", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750614", "evidence": [ { "id": "rs223364862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223364862" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1816", "end_pos": "1816", "site_lbl": "Asp1816", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750676", "evidence": [ { "id": "rs45904480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45904480" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1846", "end_pos": "1846", "site_lbl": "Thr1846", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750767", "evidence": [ { "id": "rs3388916553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916553" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1850", "end_pos": "1850", "site_lbl": "Asn1850", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750778", "evidence": [ { "id": "rs36349467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36349467" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1868", "end_pos": "1868", "site_lbl": "Tyr1868", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750832", "evidence": [ { "id": "rs36376581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36376581" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1885", "end_pos": "1885", "site_lbl": "Gly1885", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750883", "evidence": [ { "id": "rs3388920046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920046" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1938", "end_pos": "1938", "site_lbl": "His1938", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78761102", "evidence": [ { "id": "rs32310727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32310727" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1949", "end_pos": "1949", "site_lbl": "Arg1949", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78761135", "evidence": [ { "id": "rs265865197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265865197" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1970", "end_pos": "1970", "site_lbl": "Asn1970", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78761199", "evidence": [ { "id": "rs3398131340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398131340" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78761198", "evidence": [ { "id": "rs3412964498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412964498" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1973", "end_pos": "1973", "site_lbl": "Ala1973", "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": "7", "chr_pos": "78761708", "evidence": [ { "id": "rs3388901478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388901478" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2000", "end_pos": "2000", "site_lbl": "Phe2000", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78762426", "evidence": [ { "id": "rs3388898532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898532" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2019", "end_pos": "2019", "site_lbl": "Val2019", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78762482", "evidence": [ { "id": "rs3388922422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388922422" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2038", "end_pos": "2038", "site_lbl": "Leu2038", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78762539", "evidence": [ { "id": "rs3397751170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397751170" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2044", "end_pos": "2044", "site_lbl": "Lys2044", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78762557", "evidence": [ { "id": "rs3388913081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388913081" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2064", "end_pos": "2064", "site_lbl": "Lys2064", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763453", "evidence": [ { "id": "rs3388898481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898481" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2074", "end_pos": "2074", "site_lbl": "Val2074", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763483", "evidence": [ { "id": "rs1135266723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135266723" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2100", "end_pos": "2100", "site_lbl": "Glu2100", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763563", "evidence": [ { "id": "rs261187312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261187312" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2102", "end_pos": "2102", "site_lbl": "Arg2102", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763568", "evidence": [ { "id": "rs38286487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38286487" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2106", "end_pos": "2106", "site_lbl": "Thr2106", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763580", "evidence": [ { "id": "rs3388916341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916341" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2113", "end_pos": "2113", "site_lbl": "His2113", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763964", "evidence": [ { "id": "rs3388919791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919791" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Asp223", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78737964", "evidence": [ { "id": "rs3388901419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388901419" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Asp225", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78737969", "evidence": [ { "id": "rs3388916582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916582" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Glu240", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78738016", "evidence": [ { "id": "rs3388911676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911676" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Asp243", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78738025", "evidence": [ { "id": "rs3388898468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898468" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Cys246", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78738033", "evidence": [ { "id": "rs3388917649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388917649" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ala269", "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": "7", "chr_pos": "78739399", "evidence": [ { "id": "rs3388906736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906736" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Ala289", "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": "7", "chr_pos": "78750361", "evidence": [ { "id": "rs48938013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48938013" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Trp301", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78739496", "evidence": [ { "id": "rs3388892118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388892118" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Asp339", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78739609", "evidence": [ { "id": "rs3388922431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388922431" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ile347", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750535", "evidence": [ { "id": "rs3388898516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898516" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Gln35", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78734247", "evidence": [ { "id": "rs3388911645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911645" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Phe361", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740716", "evidence": [ { "id": "rs3388892083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388892083" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Gly366", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740731", "evidence": [ { "id": "rs3388922380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388922380" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Gln373", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750614", "evidence": [ { "id": "rs223364862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223364862" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Asp379", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740770", "evidence": [ { "id": "rs3388916571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916571" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Glu381", "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": "7", "chr_pos": "78740777", "evidence": [ { "id": "rs3398153708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398153708" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Ala393", "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": "7", "chr_pos": "78740812", "evidence": [ { "id": "rs3388898538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898538" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Thr3", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78731949", "evidence": [ { "id": "rs3388920240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920240" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Pro409", "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": "7", "chr_pos": "78740860", "evidence": [ { "id": "rs3388920088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920088" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ile411", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740866", "evidence": [ { "id": "rs5528077053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5528077053" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Gly415", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740879", "evidence": [ { "id": "rs3388920211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920211" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Arg435", "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": "7", "chr_pos": "78740939", "evidence": [ { "id": "rs3388920082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920082" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Ala439", "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": "7", "chr_pos": "78740950", "evidence": [ { "id": "rs3546069404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546069404" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Pro446", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740971", "evidence": [ { "id": "rs3398124649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398124649" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Phe459", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741011", "evidence": [ { "id": "rs4226711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4226711" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Gln480", "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": "7", "chr_pos": "78741073", "evidence": [ { "id": "rs3398304052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398304052" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Pro481", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741077", "evidence": [ { "id": "rs3397739588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397739588" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Arg482", "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": "7", "chr_pos": "78741079", "evidence": [ { "id": "rs3398203890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398203890" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741080", "evidence": [ { "id": "rs4226710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4226710" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Leu483", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741083", "evidence": [ { "id": "rs3397989205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397989205" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Gly485", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741088", "evidence": [ { "id": "rs3388916079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916079" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Gln506", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78742120", "evidence": [ { "id": "rs3388917639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388917639" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "511", "end_pos": "511", "site_lbl": "His511", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78742135", "evidence": [ { "id": "rs217178391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217178391" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Val515", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78742147", "evidence": [ { "id": "rs36705409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36705409" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Arg565", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78761135", "evidence": [ { "id": "rs265865197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265865197" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Tyr567", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78742496", "evidence": [ { "id": "rs3388923241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923241" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "581", "end_pos": "581", "site_lbl": "Tyr581", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78742537", "evidence": [ { "id": "rs3388920272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920272" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Glu596", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78743756", "evidence": [ { "id": "rs230646548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230646548" } ] } ] }, { 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"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: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: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:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the 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"4297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4297" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "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:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:5603", "evidence": [ { "id": "5603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ], "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: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:8683", "name": "myeloid sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8683", "evidence": [ { "id": "8683", "database": "AGR", "url": 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cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "positive regulation of cell 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"GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing 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"uniprot_canonical_ac": "Q91X88-1", "start_pos": "640", "end_pos": "640", "site_lbl": "Thr640", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "116016400", "evidence": [ { "id": "rs3388692345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388692345" } ] } ] }, { "uniprot_canonical_ac": "Q91X88-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Arg91", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "4", "chr_pos": "116009309", "evidence": [ { "id": "rs3388690148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388690148" } ] } ] } ], "record_id": "Q91X88-1" }, { "uniprot_canonical_ac": "Q9DAG9-1", "species": [ { "name": "Mus 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No effect on ubiquitination of histone H3.", "evidence": [ { "database": "UniProtKB", "id": "Q9DAG9", "url": "https://www.uniprot.org/uniprotkb/Q9DAG9" }, { "database": "PubMed", "id": "37993255", "url": "https://glygen.org/publication/PubMed/37993255" } ] } ] } ], "record_id": "Q9DAG9-1" }, { "uniprot_canonical_ac": "Q9DCE5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCE5", "url": "https://www.uniprot.org/uniprotkb/Q9DCE5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 382, "chemical_mass": 42116.0, "gene_names": "Pak1ip1;5830431I15Rik;5930415H02Rik;Gdpd1;PIP1;Pak1ip1", "protein_name": "p21-activated protein kinase-interacting protein 1", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9DCE5", "url": 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"UniProtKB", "id": "Q9DCE5", "url": "https://www.uniprot.org/uniprotkb/Q9DCE5" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "Q9DCE5", "url": "https://www.uniprot.org/uniprotkb/Q9DCE5" } ], "pmid": "" }, { "name": "maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000463", "evidence": [ { "database": "UniProtKB", "id": "Q9DCE5", "url": "https://www.uniprot.org/uniprotkb/Q9DCE5" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase inhibitor activity", "id": "GO:0004860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004860", "evidence": [ { "database": "UniProtKB", "id": "Q9DCE5", "url": "https://www.uniprot.org/uniprotkb/Q9DCE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DCE5-1" }, { "uniprot_canonical_ac": "Q9WV95-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 125, "chemical_mass": 13719.0, "gene_names": "Phlda3;Phlda3;Tih1", "protein_name": "Pleckstrin homology-like domain family A member 3", "disease": [], "molecular_function": [ { "name": "phosphatidylinositol-5-phosphate binding", "id": "GO:0010314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010314", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate binding", "id": "GO:0043325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043325", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate binding", "id": "GO:0080025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080025", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate binding", "id": "GO:0032266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032266", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" }, { "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": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WV95-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Lys27", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs the ability to resucue growth in cdc25ts mutant yeasts.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" }, { "database": "PubMed", "id": "12374806", "url": "https://glygen.org/publication/PubMed/12374806" } ] } ] }, { "uniprot_canonical_ac": "Q9WV95-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Arg28", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Impairs the ability to resucue growth in cdc25ts mutant yeasts.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" }, { "database": "PubMed", "id": "12374806", "url": "https://glygen.org/publication/PubMed/12374806" } ] } ] } ], "record_id": "Q9WV95-1" }, { "uniprot_canonical_ac": "Q9WVQ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1022, "chemical_mass": 119401.0, "gene_names": "Pmfbp1;1700016D22Rik;F77;Pmfbp1;Stap", "protein_name": "Polyamine-modulated factor 1-binding protein 1", "disease": [ { "disease_id": 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], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9WVQ0-1" }, { "uniprot_canonical_ac": "Q9Z1B8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 559, "chemical_mass": 61140.0, "gene_names": "Phf1;D17Ertd455e;Pcl1;Phf1;Phf2;Plc1;Tctex-3;Tctex3", "protein_name": "PHD finger protein 1", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "identical protein binding", "id": 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"GO:0140002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140002", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "ESC/E(Z) complex", "id": "GO:0035098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035098", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "negative regulation of gene expression, epigenetic", "id": "GO:0045814", "url": 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"chr_id": "5", "chr_pos": "65547826", "evidence": [ { "id": "rs3388763601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388763601" } ] } ] }, { "uniprot_canonical_ac": "P51410-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ser94", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "5", "chr_pos": "65546931", "evidence": [ { "id": "rs3388763201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388763201" } ] } ] } ], "record_id": "P51410-1" }, { "uniprot_canonical_ac": "Q8BFX1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BFX1", "url": "https://www.uniprot.org/uniprotkb/Q8BFX1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 236, "chemical_mass": 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"evidence": [ { "database": "UniProtKB", "id": "Q8BFX1", "url": "https://www.uniprot.org/uniprotkb/Q8BFX1" } ], "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": "Q8BFX1", "url": "https://www.uniprot.org/uniprotkb/Q8BFX1" } ], "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": "Q8BFX1", "url": "https://www.uniprot.org/uniprotkb/Q8BFX1" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q8BFX1", "url": "https://www.uniprot.org/uniprotkb/Q8BFX1" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q8BFX1", "url": "https://www.uniprot.org/uniprotkb/Q8BFX1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BFX1-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BFX1", "url": "https://www.uniprot.org/uniprotkb/Q8BFX1" } ] } ] } ], "record_id": "Q8BFX1-1" }, { "uniprot_canonical_ac": "P47911-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P47911", "url": "https://www.uniprot.org/uniprotkb/P47911" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 296, "chemical_mass": 33510.0, "gene_names": "Rpl6;Rpl6;Taxreb107", "protein_name": "Large ribosomal subunit protein 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"pmid": "" }, { "name": "translation at presynapse", "id": "GO:0140236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140236", "evidence": [ { "database": "UniProtKB", "id": "P47911", "url": "https://www.uniprot.org/uniprotkb/P47911" } ], "pmid": "" }, { "name": "translation at postsynapse", "id": "GO:0140242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140242", "evidence": [ { "database": "UniProtKB", "id": "P47911", "url": "https://www.uniprot.org/uniprotkb/P47911" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "P47911", "url": "https://www.uniprot.org/uniprotkb/P47911" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P47911", "url": "https://www.uniprot.org/uniprotkb/P47911" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P47911", "url": "https://www.uniprot.org/uniprotkb/P47911" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "P47911", "url": "https://www.uniprot.org/uniprotkb/P47911" } ], "pmid": "" }, { "name": "5.8S rRNA binding", "id": "GO:1990932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990932", "evidence": [ { "database": "UniProtKB", "id": "P47911", "url": "https://www.uniprot.org/uniprotkb/P47911" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "P47911", "url": "https://www.uniprot.org/uniprotkb/P47911" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62984-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62984", "url": "https://www.uniprot.org/uniprotkb/P62984" } ] } ] } ], "record_id": "P62984-1" }, { "uniprot_canonical_ac": "Q80YQ8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80YQ8", "url": "https://www.uniprot.org/uniprotkb/Q80YQ8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 391, "chemical_mass": 43993.0, "gene_names": "Rmnd5a;1110007A06Rik;Gid2;MTA.D02.090;Rmnd5a", "protein_name": "E3 ubiquitin-protein ligase RMND5A", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q80YQ8", "url": "https://www.uniprot.org/uniprotkb/Q80YQ8" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q80YQ8", "url": "https://www.uniprot.org/uniprotkb/Q80YQ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q80YQ8-1" }, { "uniprot_canonical_ac": "Q62193-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 270, "chemical_mass": 29440.0, "gene_names": "Rpa2;RPA34;Rf-A2;Rpa2;Rpa34", "protein_name": "Replication protein A 32 kDa subunit", "disease": [], "molecular_function": [ { "name": "G-rich 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"https://www.ebi.ac.uk/QuickGO/term/GO:2000001", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "mismatch repair", "id": "GO:0006298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006298", "evidence": [ { 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