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"site_lbl": "Ser803", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G5E8P1", "url": "https://www.uniprot.org/uniprotkb/G5E8P1" } ] } ] } ], "record_id": "G5E8P1-1" }, { "uniprot_canonical_ac": "E9PW10-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PW10", "url": "https://www.uniprot.org/uniprotkb/E9PW10" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 424, "chemical_mass": 47808.0, "gene_names": "Triml2;EG622117;Triml2;Tu4", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9PW10", "url": "https://www.uniprot.org/uniprotkb/E9PW10" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "E9PW10", "url": "https://www.uniprot.org/uniprotkb/E9PW10" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "E9PW10", "url": "https://www.uniprot.org/uniprotkb/E9PW10" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "E9PW10", "url": "https://www.uniprot.org/uniprotkb/E9PW10" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "E9PW10", "url": "https://www.uniprot.org/uniprotkb/E9PW10" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PW10-1" }, { "uniprot_canonical_ac": "A8DUK4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 147, "chemical_mass": 15748.0, "gene_names": "Hbb-bs;Beta-s;Hbb-bs;Hbb-bt;Hbbt1;Hbbt2", "protein_name": "", "disease": [ { "disease_id": "DOID:0080770", "name": "autosomal dominant beta thalassemia", "description": "A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.", "url": "https://disease-ontology.org/term/DOID:0080770", "evidence": [ { "id": "0080770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080770" } ], "weight": 0.0 }, { "disease_id": "DOID:0080773", "name": "delta beta-thalassemia", "description": "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.", "url": "https://disease-ontology.org/term/DOID:0080773", "evidence": [ { "id": "0080773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080773" } ], "weight": 0.0 }, { "disease_id": "DOID:0081445", "name": "sickle cell disease", "description": "A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/0-thalassemia).", "url": "https://disease-ontology.org/term/DOID:0081445", "evidence": [ { "id": "0081445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081445" } ], "weight": 0.0 }, { "disease_id": "DOID:0111363", "name": "Heinz body anemia", "description": "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively.", "url": "https://disease-ontology.org/term/DOID:0111363", "evidence": [ { "id": "0111363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111363" } ], "weight": 0.0 }, { "disease_id": "DOID:0111632", "name": "familial erythrocytosis 6", "description": "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4.", "url": "https://disease-ontology.org/term/DOID:0111632", "evidence": [ { "id": "0111632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111632" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:1099", "name": "alpha thalassemia", "description": "A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.", "url": "https://disease-ontology.org/term/DOID:1099", "evidence": [ { "id": "1099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2859", "name": "hemoglobin C disease", "description": "", "url": "https://disease-ontology.org/term/DOID:2859", "evidence": [ { "id": "2859", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2859" } ], "weight": 0.0 }, { "disease_id": "DOID:2860", "name": "hemoglobinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:2860", "evidence": [ { "id": "2860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2860" } ], "weight": 0.0 }, { "disease_id": "DOID:589", "name": "congenital hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:589", "evidence": [ { "id": "589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:589" } ], "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 } 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{ "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" }, { "name": "hemoglobin binding", "id": "GO:0030492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030492", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" }, { "name": "hemoglobin alpha binding", "id": "GO:0031721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031721", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" }, { "name": "oxygen binding", "id": "GO:0019825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019825", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" }, { "name": "oxygen carrier activity", "id": "GO:0005344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005344", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" }, { "name": "hemoglobin beta binding", "id": "GO:0031722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031722", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" } ], "biological_process": [ { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "A8DUK4", "url": "https://www.uniprot.org/uniprotkb/A8DUK4" } ], "pmid": "" }, { "name": "cellular oxidant detoxification", "id": "GO:0098869", "url": 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 768, "chemical_mass": 85656.0, "gene_names": "Chpf2;2010209O12Rik;Chpf2;Gm42230;mKIAA1402;mir-671", "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "disease": [], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q3UU43", "url": "https://www.uniprot.org/uniprotkb/Q3UU43" } ], "pmid": "" }, { "name": "Golgi cisterna membrane", "id": "GO:0032580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032580", "evidence": [ { "database": "UniProtKB", "id": "Q3UU43", "url": "https://www.uniprot.org/uniprotkb/Q3UU43" } ], "pmid": "" } ], "biological_process": [ { "name": "chondroitin sulfate proteoglycan biosynthetic process", "id": "GO:0050650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050650", "evidence": [ { "database": "UniProtKB", "id": "Q3UU43", "url": 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"relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 547, "start_aa": "Asn", "end_pos": 547, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn547", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2124", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2124" } ] }, { "glytoucan_ac": "G93180LE", "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": 547, "start_aa": "Asn", "end_pos": 547, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn547", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2124", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2124" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Gly118", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100961302", "evidence": [ { "id": "rs3389190997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389190997" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Arg147", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100961967", "evidence": [ { "id": "rs3389178253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389178253" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "225", "end_pos": "225", "site_lbl": "His225", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100963044", "evidence": [ { "id": "rs3389204426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389204426" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ala244", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100963100", "evidence": [ { "id": "rs3389211609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389211609" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Ala327", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100964893", "evidence": [ { "id": "rs29468351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29468351" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Arg36", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100961057", "evidence": [ { "id": "rs3389138201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389138201" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Asp380", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": 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0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100961075", "evidence": [ { "id": "rs234418491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234418491" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Ser434", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967352", "evidence": [ { "id": "rs3389138220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389138220" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ala43", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100961077", "evidence": [ { "id": "rs3389214064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389214064" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100961078", "evidence": [ { "id": "rs3389200527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389200527" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Leu455", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967414", "evidence": [ { "id": "rs3389204508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389204508" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Val499", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967546", "evidence": [ { "id": "rs3389190910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389190910" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Tyr500", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967550", "evidence": [ { "id": "rs3389202247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389202247" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Gly504", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967561", "evidence": [ { "id": "rs3389190991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389190991" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Ala526", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "100967628", "evidence": [ { "id": "rs3389207221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389207221" } ] } ] }, { "uniprot_canonical_ac": "O88325-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Ala544", 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"name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q8BJT9", "url": "https://www.uniprot.org/uniprotkb/Q8BJT9" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "Q8BJT9", "url": "https://www.uniprot.org/uniprotkb/Q8BJT9" } ], "pmid": "" }, { "name": "endoplasmic reticulum mannose trimming", "id": "GO:1904380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904380", "evidence": [ { "database": "UniProtKB", "id": "Q8BJT9", "url": "https://www.uniprot.org/uniprotkb/Q8BJT9" } ], "pmid": "" }, { "name": "positive regulation of retrograde protein transport, ER to cytosol", "id": "GO:1904154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904154", "evidence": [ { "database": "UniProtKB", "id": "Q8BJT9", "url": 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"Asn112", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 112, "start_aa": "Asn", "end_pos": 112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn112", "evidence": [ { "id": "Q8BJT9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BJT9#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q8BJT9-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Asn289", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": 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0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "2", "chr_pos": "155555369", "evidence": [ { "id": "rs3392452435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392452435" } ] } ] }, { "uniprot_canonical_ac": "Q8BJT9-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Ser259", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/m-type.", "chr_id": "2", "chr_pos": "155555327", "evidence": [ { "id": "rs3388602991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388602991" } ] } ] }, { "uniprot_canonical_ac": "Q8BJT9-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ile269", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: 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"Q7TS40", "url": "https://www.uniprot.org/uniprotkb/Q7TS40" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 306, "chemical_mass": 34815.0, "gene_names": "Or5ac16;MOR182-8;Olfr198;Or5ac16", "protein_name": "Olfactory receptor", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q7TS40", "url": "https://www.uniprot.org/uniprotkb/Q7TS40" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TS40", "url": "https://www.uniprot.org/uniprotkb/Q7TS40" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q7TS40", "url": "https://www.uniprot.org/uniprotkb/Q7TS40" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TS40", "url": "https://www.uniprot.org/uniprotkb/Q7TS40" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TS40", "url": "https://www.uniprot.org/uniprotkb/Q7TS40" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q7TS40", "url": "https://www.uniprot.org/uniprotkb/Q7TS40" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q7TS40", "url": "https://www.uniprot.org/uniprotkb/Q7TS40" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TS40-1" }, { "uniprot_canonical_ac": "Q810G1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 189, "chemical_mass": 21798.0, "gene_names": "Ifna16;Gm13280;If1ai6;Ifna16;Ifna6T;Ifnat6", "protein_name": "", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.", "url": "https://disease-ontology.org/term/DOID:12287", "evidence": [ { "id": "12287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12287" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 } ], "biological_process": [ { "name": "B cell activation involved in immune response", "id": "GO:0002312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002312", "evidence": [ { "database": "UniProtKB", "id": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "pmid": "" }, { "name": "type I interferon-mediated signaling pathway", "id": "GO:0060337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060337", "evidence": [ { "database": "UniProtKB", "id": "Q810G1", "url": 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"https://www.uniprot.org/uniprotkb/Q810G1" } ], "pmid": "" }, { "name": "natural killer cell activation involved in immune response", "id": "GO:0002323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002323", "evidence": [ { "database": "UniProtKB", "id": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "pmid": "" }, { "name": "type I interferon receptor binding", "id": "GO:0005132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005132", "evidence": [ { "database": "UniProtKB", "id": "Q810G1", "url": "https://www.uniprot.org/uniprotkb/Q810G1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q810G1-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Thr68", "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": 68, "start_aa": "Thr", "end_pos": 68, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr68", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q810G1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q810G1" }, { "id": "Q810G1", "database": "O-GlcNAc Atlas", "url": 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"pheromone receptor activity", "id": "GO:0016503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016503", "evidence": [ { "database": "UniProtKB", "id": "Q8R261", "url": "https://www.uniprot.org/uniprotkb/Q8R261" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R261-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Asn155", "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": "AGSSLNR", "relation": "attached", "comment": "reported site N75 is on non-canonical isoform A0A2I3BRZ5-1 which maps to canonical isoform site Q8R261-1:155", "icn3d_view": {}, "start_pos": 155, "start_aa": "Asn", "end_pos": 155, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn155", "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": "Q8R261-1" }, { "uniprot_canonical_ac": "Q8VF31-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VF31", "url": "https://www.uniprot.org/uniprotkb/Q8VF31" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 314, "chemical_mass": 35347.0, "gene_names": "Or9a4;MOR120-2;Olfr460;Or9a4", "protein_name": "Olfactory receptor", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8VF31", "url": "https://www.uniprot.org/uniprotkb/Q8VF31" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": 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"sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116551975", "evidence": [ { "id": "rs3388648791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388648791" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1208", "end_pos": "1208", "site_lbl": "Met1208", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116551964", "evidence": [ { "id": "rs3388653317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653317" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1223", "end_pos": "1223", "site_lbl": "Gly1223", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116551920", "evidence": [ { "id": "rs3388664137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388664137" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1253", "end_pos": "1253", "site_lbl": "Arg1253", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116548600", "evidence": [ { "id": "rs3388659810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388659810" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Asp125", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116585753", "evidence": [ { "id": "rs864258357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864258357" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1266", "end_pos": "1266", "site_lbl": "Ser1266", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116548561", "evidence": [ { "id": "rs3388659802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388659802" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Cys126", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116585750", "evidence": [ { "id": "rs3388648762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388648762" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1290", "end_pos": "1290", "site_lbl": "Cys1290", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116546979", "evidence": [ { "id": "rs47217924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47217924" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1309", "end_pos": "1309", "site_lbl": "His1309", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116546923", "evidence": [ { "id": "rs262907881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262907881" } ] }, { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116546924", "evidence": [ { "id": "rs224848823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224848823" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1314", "end_pos": "1314", "site_lbl": "Lys1314", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116546908", "evidence": [ { "id": "rs236980286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236980286" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1316", "end_pos": "1316", "site_lbl": "His1316", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116546901", "evidence": [ { "id": "rs213571041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213571041" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "1473", "end_pos": "1473", "site_lbl": "Thr1473", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116540092", "evidence": [ { "id": "rs243555425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243555425" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Val197", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116584729", "evidence": [ { "id": "rs3388661822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388661822" } ] }, { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116584730", "evidence": [ { "id": "rs3388664163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388664163" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ile210", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116584691", "evidence": [ { "id": "rs221351472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221351472" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Thr223", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116583521", "evidence": [ { "id": "rs3541772818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541772818" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Asn282", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116582176", "evidence": [ { "id": "rs3541807870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541807870" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Arg285", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116582024", "evidence": [ { "id": "rs5526242010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526242010" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Gln32", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116587458", "evidence": [ { "id": "rs3388654418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388654418" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ala347", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580922", "evidence": [ { "id": "rs237952059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237952059" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Thr352", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580906", "evidence": [ { "id": "rs224070208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224070208" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Thr356", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580894", "evidence": [ { "id": "rs3388653383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653383" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580895", "evidence": [ { "id": "rs3388654420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388654420" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ile358", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580889", "evidence": [ { "id": "rs3388653361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653361" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Pro364", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580463", "evidence": [ { "id": "rs51017161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51017161" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Cys391", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580381", "evidence": [ { "id": "rs3388662433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388662433" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Gly413", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116580224", "evidence": [ { "id": "rs3388664096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388664096" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Leu439", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116578816", "evidence": [ { "id": "rs3388657235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388657235" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Ala441", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116578810", "evidence": [ { "id": "rs258677028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258677028" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Glu473", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116578715", "evidence": [ { "id": "rs3388654364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388654364" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Glu500", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116578215", "evidence": [ { "id": "rs46355842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46355842" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Lys510", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116578184", "evidence": [ { "id": "rs243674360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243674360" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Tyr512", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116578179", "evidence": [ { "id": "rs3388659804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388659804" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Gly559", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116551920", "evidence": [ { "id": "rs3388664137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388664137" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Arg63", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116587366", "evidence": [ { "id": "rs3541797482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541797482" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Val646", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116574957", "evidence": [ { "id": "rs257777047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257777047" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Cys652", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116574939", "evidence": [ { "id": "rs3388664156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388664156" } ] }, { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116574938", "evidence": [ { "id": "rs3388663530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663530" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Pro686", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116574741", "evidence": [ { "id": "rs3541768133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541768133" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "725", "end_pos": "725", "site_lbl": "Val725", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116574509", "evidence": [ { "id": "rs3388658317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388658317" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "731", "end_pos": "731", "site_lbl": "Ala731", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116574492", "evidence": [ { "id": "rs3388661858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388661858" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "743", "end_pos": "743", "site_lbl": "Val743", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116574456", "evidence": [ { "id": "rs237763148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237763148" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Asn753", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116574425", "evidence": [ { "id": "rs3388664154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388664154" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Tyr789", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "3", "chr_pos": "116572972", "evidence": [ { "id": "rs3388661536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388661536" } ] } ] }, { "uniprot_canonical_ac": "F8VPN4-1", "start_pos": "793", "end_pos": "793", "site_lbl": "Glu793", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation 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"disease": [ { "disease_id": "DOID:0060826", "name": "syndromic X-linked intellectual disability Shashi type", "description": "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.", "url": "https://disease-ontology.org/term/DOID:0060826", "evidence": [ { "id": "0060826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060826" } ], "weight": 0.0 }, { "disease_id": "DOID:0081123", "name": "X-linked mental retardation Gustavson type", "description": "A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygous mutation in the RBMX gene on chromosome Xq26.", "url": 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glycosylhydrolase.", "chr_id": "6", "chr_pos": "40663503", "evidence": [ { "id": "rs3544164043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544164043" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1383", "end_pos": "1383", "site_lbl": "Ala1383", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40666404", "evidence": [ { "id": "rs583720076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583720076" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1446", "end_pos": "1446", "site_lbl": "Asp1446", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40668093", "evidence": [ { "id": "rs3544203863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544203863" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1471", "end_pos": "1471", "site_lbl": "Met1471", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40668997", "evidence": [ { "id": "rs586908470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586908470" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1475", "end_pos": "1475", "site_lbl": "Thr1475", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40669010", "evidence": [ { "id": "rs387123139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387123139" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1535", "end_pos": "1535", "site_lbl": "Gln1535", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40669406", "evidence": [ { "id": "rs584233545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584233545" } ] }, { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40669404", "evidence": [ { "id": "rs580781862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs580781862" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Phe157", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40631641", "evidence": [ { "id": "rs3388819333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388819333" } ] }, { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40631640", "evidence": [ { "id": "rs3388824139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824139" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1593", "end_pos": "1593", "site_lbl": "Leu1593", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40669971", "evidence": [ { "id": "rs1135198576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135198576" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1602", "end_pos": "1602", "site_lbl": "Lys1602", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40669999", "evidence": [ { "id": "rs3544189804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544189804" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1654", "end_pos": "1654", "site_lbl": "Ala1654", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40671651", "evidence": [ { "id": "rs3544154341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544154341" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1694", "end_pos": "1694", "site_lbl": "Gln1694", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40674728", "evidence": [ { "id": "rs5527551176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527551176" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1716", "end_pos": "1716", "site_lbl": "Lys1716", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40676358", "evidence": [ { "id": "rs578511842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578511842" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "173", "end_pos": "173", "site_lbl": "His173", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40632184", "evidence": [ { "id": "rs3388803436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388803436" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Glu174", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40632187", "evidence": [ { "id": "rs3388814156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388814156" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1777", "end_pos": "1777", "site_lbl": "Gln1777", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40680348", "evidence": [ { "id": "rs586323683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586323683" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1778", "end_pos": "1778", "site_lbl": "Glu1778", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40680351", "evidence": [ { "id": "rs578503669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578503669" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1780", "end_pos": "1780", "site_lbl": "Ser1780", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40680357", "evidence": [ { "id": "rs387189327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387189327" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1798", "end_pos": "1798", "site_lbl": "Thr1798", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40680411", "evidence": [ { "id": "rs585793703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585793703" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1814", "end_pos": "1814", "site_lbl": "Arg1814", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683333", "evidence": [ { "id": "rs387322592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387322592" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1824", "end_pos": "1824", "site_lbl": "Gly1824", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683363", "evidence": [ { "id": "rs582607671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582607671" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1826", "end_pos": "1826", "site_lbl": "Phe1826", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683370", "evidence": [ { "id": "rs586072548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586072548" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1856", "end_pos": "1856", "site_lbl": "Glu1856", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683825", "evidence": [ { "id": "rs585953617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585953617" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1864", "end_pos": "1864", "site_lbl": "Thr1864", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683848", "evidence": [ { "id": "rs579690625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579690625" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1883", "end_pos": "1883", "site_lbl": "Gly1883", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683905", "evidence": [ { "id": "rs36989320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36989320" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1903", "end_pos": "1903", "site_lbl": "Pro1903", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40683965", "evidence": [ { "id": "rs579866040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579866040" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Val191", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40632238", "evidence": [ { "id": "rs3388823563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388823563" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "1966", "end_pos": "1966", "site_lbl": "Arg1966", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40686030", "evidence": [ { "id": "rs36697720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36697720" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ser206", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40632283", "evidence": [ { "id": "rs3388793001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388793001" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Leu21", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40619973", "evidence": [ { "id": "rs3388791016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388791016" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2204", "end_pos": "2204", "site_lbl": "Val2204", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40691963", "evidence": [ { "id": "rs36761099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36761099" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2218", "end_pos": "2218", "site_lbl": "Ile2218", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40692005", "evidence": [ { "id": "rs3544150092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544150092" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2240", "end_pos": "2240", "site_lbl": "His2240", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40692363", "evidence": [ { "id": "rs586347652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586347652" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2309", "end_pos": "2309", "site_lbl": "Thr2309", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40702422", "evidence": [ { "id": "rs233007583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233007583" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2430", "end_pos": "2430", "site_lbl": "Gln2430", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40705974", "evidence": [ { "id": "rs583051398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583051398" } ] }, { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40705972", "evidence": [ { "id": "rs579601677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579601677" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2480", "end_pos": "2480", "site_lbl": "Thr2480", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40706540", "evidence": [ { "id": "rs5527569160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527569160" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2497", "end_pos": "2497", "site_lbl": "Met2497", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40706593", "evidence": [ { "id": "rs220130454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220130454" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40706592", "evidence": [ { "id": "rs256162253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256162253" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Asn251", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40633446", "evidence": [ { "id": "rs243549483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243549483" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2567", "end_pos": "2567", "site_lbl": "Lys2567", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40712258", "evidence": [ { "id": "rs1132252188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132252188" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2575", "end_pos": "2575", "site_lbl": "His2575", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40712281", "evidence": [ { "id": "rs5527433179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527433179" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2590", "end_pos": "2590", "site_lbl": "Arg2590", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40712327", "evidence": [ { "id": "rs1133040997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133040997" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2656", "end_pos": "2656", "site_lbl": "Asn2656", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40717036", "evidence": [ { "id": "rs228847488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228847488" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2671", "end_pos": "2671", "site_lbl": "Arg2671", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40717081", "evidence": [ { "id": "rs5527581409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527581409" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Ile26", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40619989", "evidence": [ { "id": "rs3388832169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388832169" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Val276", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40634401", "evidence": [ { "id": "rs3388824613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824613" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2837", "end_pos": "2837", "site_lbl": "Pro2837", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40722172", "evidence": [ { "id": "rs3396643107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396643107" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2838", "end_pos": "2838", "site_lbl": "Ser2838", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40722175", "evidence": [ { "id": "rs3396271485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396271485" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2840", "end_pos": "2840", "site_lbl": "Thr2840", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40722180", "evidence": [ { "id": "rs3544150026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544150026" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "2841", "end_pos": "2841", "site_lbl": "Pro2841", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40722184", "evidence": [ { "id": "rs3396662406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396662406" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3033", "end_pos": "3033", "site_lbl": "Lys3033", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40726074", "evidence": [ { "id": "rs252225961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252225961" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3066", "end_pos": "3066", "site_lbl": "Asn3066", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40727159", "evidence": [ { "id": "rs3544163070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544163070" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3071", "end_pos": "3071", "site_lbl": "Asn3071", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40727175", "evidence": [ { "id": "rs3544215461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544215461" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3089", "end_pos": "3089", "site_lbl": "Glu3089", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40727474", "evidence": [ { "id": "rs582726506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582726506" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3096", "end_pos": "3096", "site_lbl": "Arg3096", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40727496", "evidence": [ { "id": "rs3544250648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544250648" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3134", "end_pos": "3134", "site_lbl": "His3134", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40727906", "evidence": [ { "id": "rs583894973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583894973" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3194", "end_pos": "3194", "site_lbl": "Ala3194", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40732408", "evidence": [ { "id": "rs3396663964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396663964" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3212", "end_pos": "3212", "site_lbl": "Tyr3212", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40732461", "evidence": [ { "id": "rs259098781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259098781" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Phe325", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40635170", "evidence": [ { "id": "rs3388824624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824624" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3324", "end_pos": "3324", "site_lbl": "Gln3324", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40734776", "evidence": [ { "id": "rs579923024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579923024" } ] }, { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40734774", "evidence": [ { "id": "rs585459087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585459087" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Val334", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40635195", "evidence": [ { "id": "rs3388824171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824171" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3409", "end_pos": "3409", "site_lbl": "Glu3409", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40736723", "evidence": [ { "id": "rs36545925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36545925" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3431", "end_pos": "3431", "site_lbl": "Pro3431", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40736788", "evidence": [ { "id": "rs231509672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231509672" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Arg343", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40635874", "evidence": [ { "id": "rs221004220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221004220" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3482", "end_pos": "3482", "site_lbl": "Trp3482", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40740105", "evidence": [ { "id": "rs3395914747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395914747" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3484", "end_pos": "3484", "site_lbl": "Glu3484", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40740111", "evidence": [ { "id": "rs3396664019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396664019" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Leu34", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40620013", "evidence": [ { "id": "rs3388814170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388814170" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3500", "end_pos": "3500", "site_lbl": "Arg3500", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40741138", "evidence": [ { "id": "rs5527534286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527534286" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3515", "end_pos": "3515", "site_lbl": "Trp3515", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40741184", "evidence": [ { "id": "rs3396690682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396690682" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3542", "end_pos": "3542", "site_lbl": "Glu3542", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742840", "evidence": [ { "id": "rs583046962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583046962" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742838", "evidence": [ { "id": "rs579599804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579599804" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3543", "end_pos": "3543", "site_lbl": "Lys3543", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742842", "evidence": [ { "id": "rs256712230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256712230" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3544", "end_pos": "3544", "site_lbl": "Phe3544", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742845", "evidence": [ { "id": "rs587122130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587122130" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3548", "end_pos": "3548", "site_lbl": "Leu3548", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742856", "evidence": [ { "id": "rs248679545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248679545" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3577", "end_pos": "3577", "site_lbl": "Asn3577", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742944", "evidence": [ { "id": "rs36486852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36486852" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3581", "end_pos": "3581", "site_lbl": "Glu3581", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742955", "evidence": [ { "id": "rs221602925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221602925" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3584", "end_pos": "3584", "site_lbl": "Phe3584", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", "chr_pos": "40742964", "evidence": [ { "id": "rs237758323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237758323" } ] } ] }, { "uniprot_canonical_ac": "A0A571BF69-1", "start_pos": "3615", "end_pos": "3615", "site_lbl": "Ser3615", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "6", 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"response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", 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"GO:0141156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141156", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q01147", "url": "https://www.uniprot.org/uniprotkb/Q01147" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", 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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 } ], "molecular_function": [ { "name": "interleukin-23 receptor binding", "id": "GO:0045519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045519", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of NK T cell proliferation", "id": "GO:0051142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051142", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "negative regulation of interleukin-10 production", "id": "GO:0032693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032693", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of NK T cell activation", "id": "GO:0051135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051135", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "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": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "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": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity", "id": "GO:0001916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001916", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "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": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "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": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of granulocyte macrophage colony-stimulating factor production", "id": "GO:0032725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032725", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "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": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "T cell proliferation", "id": "GO:0042098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042098", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of T-helper 1 type immune response", "id": "GO:0002827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002827", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell proliferation", "id": "GO:0032819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032819", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "interleukin-23-mediated signaling pathway", "id": "GO:0038155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038155", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of memory T cell differentiation", "id": "GO:0043382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043382", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 type immune response", "id": "GO:2000318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000318", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 cell lineage commitment", "id": "GO:2000330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000330", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "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": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" } ], "cellular_component": [ { "name": "interleukin-23 complex", "id": "GO:0070743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070743", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9EQ14", "url": "https://www.uniprot.org/uniprotkb/Q9EQ14" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": 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"metaphase chromosome alignment", "id": "GO:0051310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051310", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "mitotic spindle midzone assembly", "id": "GO:0051256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051256", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "positive regulation of attachment of mitotic spindle microtubules to kinetochore", "id": "GO:1902425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902425", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle spindle assembly checkpoint", "id": "GO:0090267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090267", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "meiotic spindle midzone assembly", "id": "GO:0051257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051257", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "positive regulation of mitotic sister chromatid separation", "id": "GO:1901970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901970", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "positive regulation of mitotic cytokinesis", "id": "GO:1903490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903490", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" } ], "cellular_component": [ { "name": "central element", "id": "GO:0000801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000801", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q9WU62", "url": "https://www.uniprot.org/uniprotkb/Q9WU62" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ 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"https://www.uniprot.org/uniprotkb/Q8BK63" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q8BK63", "url": "https://www.uniprot.org/uniprotkb/Q8BK63" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "Q8BK63", "url": "https://www.uniprot.org/uniprotkb/Q8BK63" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q8BK63", "url": "https://www.uniprot.org/uniprotkb/Q8BK63" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q8BK63", "url": "https://www.uniprot.org/uniprotkb/Q8BK63" } ], 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differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { 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"https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "negative regulation of acute inflammatory response", "id": "GO:0002674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002674", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "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": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010887", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "response to lipid", "id": "GO:0033993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033993", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": 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"" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035357", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "P37238", "url": "https://www.uniprot.org/uniprotkb/P37238" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", 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button organization", "id": "GO:0072553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072553", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "synaptic vesicle targeting", "id": "GO:0016080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016080", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "cytoskeletal matrix organization at active zone", "id": "GO:0048789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048789", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "synaptic vesicle clustering", "id": "GO:0097091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097091", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "neurexin 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"https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "regulation of NMDA receptor activity", "id": "GO:2000310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000310", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "regulation of respiratory gaseous exchange by nervous system process", "id": "GO:0002087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002087", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, GABAergic", "id": "GO:0032230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032230", 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"calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "AMPA glutamate receptor clustering", "id": "GO:0097113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097113", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "NMDA glutamate receptor clustering", "id": "GO:0097114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097114", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "protein localization to synapse", "id": "GO:0035418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035418", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "synaptic membrane adhesion", "id": "GO:0099560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "receptor localization to synapse", "id": "GO:0097120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097120", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "positive regulation of circadian sleep/wake cycle, wakefulness", "id": "GO:0010841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010841", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "Q99K10", "url": "https://www.uniprot.org/uniprotkb/Q99K10" } ], "pmid": "" }, { "name": "neuron cell-cell adhesion", "id": "GO:0007158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007158", "evidence": [ { 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"name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "Q8C5D8", "url": "https://www.uniprot.org/uniprotkb/Q8C5D8" } ], "pmid": "" }, { "name": "regulation of macromolecule metabolic process", "id": "GO:0060255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060255", "evidence": [ { "database": "UniProtKB", "id": "Q8C5D8", "url": "https://www.uniprot.org/uniprotkb/Q8C5D8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C5D8-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Ser476", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C5D8", "url": "https://www.uniprot.org/uniprotkb/Q8C5D8" } ] } ] }, { "uniprot_canonical_ac": "Q8C5D8-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", 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"Q99NF2", "url": "https://www.uniprot.org/uniprotkb/Q99NF2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99NF2", "url": "https://www.uniprot.org/uniprotkb/Q99NF2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99NF2", "url": "https://www.uniprot.org/uniprotkb/Q99NF2" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q99NF2", "url": "https://www.uniprot.org/uniprotkb/Q99NF2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99NF2", "url": "https://www.uniprot.org/uniprotkb/Q99NF2" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q99NF2", "url": "https://www.uniprot.org/uniprotkb/Q99NF2" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q99NF2", "url": "https://www.uniprot.org/uniprotkb/Q99NF2" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q99NF2", "url": "https://www.uniprot.org/uniprotkb/Q99NF2" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q99NF2", "url": "https://www.uniprot.org/uniprotkb/Q99NF2" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": 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"sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes both enzyme activity and ability to inhibit PKB activity.", "evidence": [ { "database": "UniProtKB", "id": "Q6P549", "url": "https://www.uniprot.org/uniprotkb/Q6P549" }, { "database": "PubMed", "id": "10958682", "url": "https://glygen.org/publication/PubMed/10958682" } ] } ] }, { "uniprot_canonical_ac": "Q6P549-1", "start_pos": "690", "end_pos": "690", "site_lbl": "Cys690", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Induces little effect.", "evidence": [ { "database": "UniProtKB", "id": "Q6P549", "url": "https://www.uniprot.org/uniprotkb/Q6P549" }, { "database": "PubMed", "id": "10958682", "url": "https://glygen.org/publication/PubMed/10958682" } ] } ] }, { "uniprot_canonical_ac": "Q6P549-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Arg692", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Still partially active.", "evidence": [ { 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"end_pos": "311", "site_lbl": "Thr311", "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": 311, "start_aa": "Thr", "end_pos": 311, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr311", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63087", "url": "https://www.uniprot.org/uniprotkb/P63087" } ] } ] }, { "uniprot_canonical_ac": "P63087-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Thr307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", 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"innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": 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{ "name": "cellular response to norepinephrine stimulus", "id": "GO:0071874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071874", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "modulation of excitatory postsynaptic potential", "id": "GO:0098815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098815", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of protein localization to nucleus", "id": "GO:1900181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900181", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of dendritic spine maintenance", "id": "GO:1902950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902950", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of G protein-coupled receptor internalization", "id": "GO:1904022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904022", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of protein import", "id": "GO:1904591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904591", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of response to endoplasmic reticulum stress", "id": "GO:1905898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905898", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of amyloid fibril formation", "id": "GO:1905906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905906", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of amyloid fibril formation", "id": "GO:1905908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905908", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of response to calcium ion", "id": "GO:1905945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905945", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of T cell migration", "id": "GO:2000406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000406", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "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": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "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": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of amyloid-beta clearance", "id": "GO:1900221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900221", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of dendritic spine maintenance", "id": "GO:1902951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902951", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "low-density lipoprotein particle mediated signaling", "id": "GO:0055096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055096", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of neurotransmitter uptake", "id": "GO:0051580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051580", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "phospholipase D-activating G protein-coupled receptor signaling pathway", "id": "GO:0031583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031583", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic depression", "id": "GO:1900454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900454", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of spontaneous synaptic transmission", "id": "GO:0150003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150003", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of amyloid precursor protein catabolic process", "id": "GO:1902993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902993", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of presynapse assembly", "id": "GO:1905607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905607", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "negative regulation of blood circulation", "id": "GO:1903523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903523", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of endothelin production", "id": "GO:1904472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904472", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "hippocampal neuron apoptotic process", "id": "GO:0110088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110088", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of Toll signaling pathway", "id": "GO:0045752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045752", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cytosolic mRNA polyadenylation", "id": "GO:0180011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180011", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903381", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of gene expression, epigenetic", "id": "GO:0141137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141137", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of cAMP/PKA signal transduction", "id": "GO:0141163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141163", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of protein metabolic process", "id": "GO:0051246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051246", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "positive regulation of macromolecule metabolic process", "id": "GO:0010604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010604", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "response to insulin-like growth factor stimulus", "id": "GO:1990418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990418", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cellular response to manganese ion", "id": "GO:0071287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071287", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" } ], "molecular_function": [ { "name": "RAGE receptor binding", "id": "GO:0050786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050786", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "insulin receptor binding", "id": "GO:0005158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005158", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "peptidase activator activity", "id": "GO:0016504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016504", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "signaling receptor activator activity", "id": "GO:0030546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030546", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "acetylcholine receptor binding", "id": "GO:0033130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033130", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "apolipoprotein binding", "id": "GO:0034185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034185", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "PTB domain binding", "id": "GO:0051425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051425", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "growth factor receptor binding", "id": "GO:0070851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070851", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "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": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "transition metal ion binding", "id": "GO:0046914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046914", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "molecular function activator activity", "id": "GO:0140677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140677", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" } ], "cellular_component": [ { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "neuronal dense core vesicle", "id": "GO:0098992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098992", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "nuclear envelope lumen", "id": "GO:0005641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005641", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum", "id": "GO:0005790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005790", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "Golgi-associated vesicle", "id": "GO:0005798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005798", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "COPII-coated ER to Golgi transport vesicle", "id": "GO:0030134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030134", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": 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"url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "main axon", "id": "GO:0044304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044304", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "spindle midzone", "id": "GO:0051233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051233", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "endosome to plasma membrane transport vesicle", "id": "GO:0070381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070381", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "astrocyte projection", "id": "GO:0097449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097449", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "amyloid-beta complex", "id": "GO:0106003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106003", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "growth cone lamellipodium", "id": "GO:1990761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990761", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "lipoprotein particle", "id": "GO:1990777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990777", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "growth cone filopodium", "id": "GO:1990812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990812", "evidence": [ { "database": "UniProtKB", "id": "P12023", "url": "https://www.uniprot.org/uniprotkb/P12023" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": 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"common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 971, "chemical_mass": 109488.0, "gene_names": "Piwil2;Mili;Piwil1l;Piwil2;mili", "protein_name": "Piwi-like protein 2", "disease": [], "biological_process": [ { "name": "positive regulation of cytoplasmic translation", "id": "GO:2000767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000767", "evidence": [ { "database": "UniProtKB", "id": "Q8CDG1", "url": "https://www.uniprot.org/uniprotkb/Q8CDG1" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8CDG1", "url": "https://www.uniprot.org/uniprotkb/Q8CDG1" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q8CDG1", "url": "https://www.uniprot.org/uniprotkb/Q8CDG1" } ], "pmid": "" }, { "name": 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"GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q8CDG1", "url": "https://www.uniprot.org/uniprotkb/Q8CDG1" } ], "pmid": "" }, { "name": "positive regulation of meiosis I", "id": "GO:0060903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060903", "evidence": [ { "database": "UniProtKB", "id": "Q8CDG1", "url": "https://www.uniprot.org/uniprotkb/Q8CDG1" } ], "pmid": "" }, { "name": "germ-line stem cell population maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "Q8CDG1", "url": "https://www.uniprot.org/uniprotkb/Q8CDG1" } ], "pmid": "" }, { "name": "transposable element silencing by piRNA-mediated heterochromatin formation", "id": "GO:0141006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141006", "evidence": [ { "database": "UniProtKB", "id": "Q8CDG1", "url": "https://www.uniprot.org/uniprotkb/Q8CDG1" } ], "pmid": "" }, { "name": "secondary piRNA processing", "id": "GO:0140965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140965", "evidence": [ { "database": "UniProtKB", "id": "Q8CDG1", "url": "https://www.uniprot.org/uniprotkb/Q8CDG1" } ], "pmid": "" }, { "name": "transposable element silencing by mRNA destabilization", "id": "GO:0141008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141008", "evidence": [ { "database": "UniProtKB", "id": "Q8CDG1", "url": "https://www.uniprot.org/uniprotkb/Q8CDG1" } ], "pmid": "" }, { "name": "transposable element silencing by heterochromatin formation", "id": "GO:0141005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141005", "evidence": [ { "database": "UniProtKB", "id": "Q8CDG1", "url": "https://www.uniprot.org/uniprotkb/Q8CDG1" } ], "pmid": "" }, { "name": "piRNA-mediated gene silencing by mRNA destabilization", "id": "GO:0140991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140991", "evidence": [ { "database": "UniProtKB", "id": "Q8CDG1", "url": 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"Q60603", "url": "https://www.uniprot.org/uniprotkb/Q60603" }, { "database": "PubMed", "id": "27618660", "url": "https://glygen.org/publication/PubMed/27618660" } ] }, { "sequence_org": "V", "sequence_mut": "S", "comment": "Decreases affinity for CALM 230-fold; when associated with S-740.", "evidence": [ { "database": "UniProtKB", "id": "Q60603", "url": "https://www.uniprot.org/uniprotkb/Q60603" }, { "database": "PubMed", "id": "27618660", "url": "https://glygen.org/publication/PubMed/27618660" } ] } ] }, { "uniprot_canonical_ac": "Q60603-1", "start_pos": "740", "end_pos": "740", "site_lbl": "Leu740", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No effect on affinity for CALM; when associated with A-737.", "evidence": [ { "database": "UniProtKB", "id": "Q60603", "url": "https://www.uniprot.org/uniprotkb/Q60603" }, { "database": "PubMed", "id": "27618660", "url": "https://glygen.org/publication/PubMed/27618660" } ] }, { "sequence_org": "L", "sequence_mut": "S", "comment": "Decreases affinity for CALM 230-fold; when associated with S-737.", "evidence": [ { "database": "UniProtKB", "id": "Q60603", "url": "https://www.uniprot.org/uniprotkb/Q60603" }, { "database": "PubMed", "id": "27618660", "url": "https://glygen.org/publication/PubMed/27618660" } ] } ] }, { "uniprot_canonical_ac": "Q60603-1", "start_pos": "741", "end_pos": "741", "site_lbl": "Phe741", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Decreases affinity for CALM about 30-fold.", "evidence": [ { "database": "UniProtKB", "id": "Q60603", "url": "https://www.uniprot.org/uniprotkb/Q60603" }, { "database": "PubMed", "id": "27618660", "url": "https://glygen.org/publication/PubMed/27618660" } ] } ] } ], "record_id": "Q60603-1" }, { "uniprot_canonical_ac": "A6BLY7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A6BLY7", "url": "https://www.uniprot.org/uniprotkb/A6BLY7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 462, "chemical_mass": 50346.0, "gene_names": "Krt28;4733401L19Rik;CK-28;K25D;K28;Krt25d;Krt28", "protein_name": "Keratin, type I cytoskeletal 28", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A6BLY7", "url": "https://www.uniprot.org/uniprotkb/A6BLY7" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A6BLY7", "url": "https://www.uniprot.org/uniprotkb/A6BLY7" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "A6BLY7", "url": "https://www.uniprot.org/uniprotkb/A6BLY7" } ], "pmid": "" } ], "biological_process": [ { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "A6BLY7", "url": "https://www.uniprot.org/uniprotkb/A6BLY7" } ], "pmid": "" }, { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "A6BLY7", "url": "https://www.uniprot.org/uniprotkb/A6BLY7" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "A6BLY7", "url": "https://www.uniprot.org/uniprotkb/A6BLY7" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "A6BLY7", "url": "https://www.uniprot.org/uniprotkb/A6BLY7" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of skin epidermis", "id": "GO:0030280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030280", "evidence": [ { "database": "UniProtKB", "id": "A6BLY7", "url": "https://www.uniprot.org/uniprotkb/A6BLY7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A6BLY7-1" }, { "uniprot_canonical_ac": "Q61179-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61179", "url": "https://www.uniprot.org/uniprotkb/Q61179" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 399, "chemical_mass": 44610.0, "gene_names": "Irf9;Irf-9;Irf9;Isgf3g;p48", "protein_name": "Interferon regulatory factor 9", "disease": [ { "disease_id": "DOID:0111978", "name": "immunodeficiency 65", "description": "A primary immunodeficiency disease characterized by onset in early infancy of recurrent and 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"database": "UniProtKB", "id": "Q61179", "url": "https://www.uniprot.org/uniprotkb/Q61179" } ], "pmid": "" }, { "name": "myeloid cell differentiation", "id": "GO:0030099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030099", "evidence": [ { "database": "UniProtKB", "id": "Q61179", "url": "https://www.uniprot.org/uniprotkb/Q61179" } ], "pmid": "" }, { "name": "lymphocyte differentiation", "id": "GO:0030098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030098", "evidence": [ { "database": "UniProtKB", "id": "Q61179", "url": "https://www.uniprot.org/uniprotkb/Q61179" } ], "pmid": "" }, { "name": "lymphocyte activation involved in immune response", "id": "GO:0002285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002285", "evidence": [ { "database": "UniProtKB", "id": "Q61179", "url": "https://www.uniprot.org/uniprotkb/Q61179" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": 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fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.", "url": "https://disease-ontology.org/term/DOID:0111528", "evidence": [ { "id": "0111528", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111528" } ], "weight": 0.0 }, { "disease_id": "DOID:4644", "name": "epidermolysis bullosa simplex", "description": "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.", "url": "https://disease-ontology.org/term/DOID:4644", "evidence": [ { "id": "4644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4644" } ], "weight": 0.0 }, { "disease_id": "DOID:7134", "name": "esophagus small cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7134", "evidence": [ { "id": "7134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7134" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "keratin filament binding", "id": "GO:1990254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990254", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": "https://www.uniprot.org/uniprotkb/Q61781" } ], "pmid": "" }, { "name": "structural constituent of skin epidermis", "id": "GO:0030280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030280", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": "https://www.uniprot.org/uniprotkb/Q61781" } ], "pmid": "" } ], "biological_process": [ { "name": "intermediate filament bundle assembly", "id": "GO:0045110", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0009314", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": "https://www.uniprot.org/uniprotkb/Q61781" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": "https://www.uniprot.org/uniprotkb/Q61781" } ], "pmid": "" }, { "name": "hair cycle", "id": "GO:0042633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042633", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": "https://www.uniprot.org/uniprotkb/Q61781" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": "https://www.uniprot.org/uniprotkb/Q61781" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": "https://www.uniprot.org/uniprotkb/Q61781" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": "https://www.uniprot.org/uniprotkb/Q61781" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": "https://www.uniprot.org/uniprotkb/Q61781" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": "https://www.uniprot.org/uniprotkb/Q61781" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": 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"", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61781", "url": "https://www.uniprot.org/uniprotkb/Q61781" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61781", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61781" } ] } ] } ], "record_id": "Q61781-1" }, { "uniprot_canonical_ac": "Q80U59-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80U59", "url": "https://www.uniprot.org/uniprotkb/Q80U59" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1396, "chemical_mass": 154778.0, "gene_names": "D5Ertd579e;Kiaa0232;9030221A05Rik;A930018H20Rik;D5Ertd579e;Kiaa0232", "protein_name": "Uncharacterized protein KIAA0232", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": 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"reference_species": "Mus musculus [10090]" } ], "length": 658, "chemical_mass": 74078.0, "gene_names": "Ints9;D14Ertd231e;Ints9", "protein_name": "Integrator complex subunit 9", "disease": [], "biological_process": [ { "name": "regulation of transcription elongation by RNA polymerase II", "id": "GO:0034243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034243", "evidence": [ { "database": "UniProtKB", "id": "Q8K114", "url": "https://www.uniprot.org/uniprotkb/Q8K114" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "Q8K114", "url": "https://www.uniprot.org/uniprotkb/Q8K114" } ], "pmid": "" }, { "name": "snRNA processing", "id": "GO:0016180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016180", "evidence": [ { "database": "UniProtKB", "id": "Q8K114", "url": "https://www.uniprot.org/uniprotkb/Q8K114" } ], "pmid": "" }, { "name": "snRNA 3'-end processing", "id": "GO:0034472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034472", "evidence": [ { "database": "UniProtKB", "id": "Q8K114", "url": "https://www.uniprot.org/uniprotkb/Q8K114" } ], "pmid": "" }, { "name": "RNA polymerase II transcription initiation surveillance", "id": "GO:0160240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160240", "evidence": [ { "database": "UniProtKB", "id": "Q8K114", "url": "https://www.uniprot.org/uniprotkb/Q8K114" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K114", "url": "https://www.uniprot.org/uniprotkb/Q8K114" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K114", "url": 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"biomarkers": [], "sites": [], "record_id": "Q8K114-1" }, { "uniprot_canonical_ac": "Q8R0S2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R0S2", "url": "https://www.uniprot.org/uniprotkb/Q8R0S2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 961, "chemical_mass": 108015.0, "gene_names": "Iqsec1;BRAG2;D6Ertd349e;Iqsec1;Kiaa0763;cI-43", "protein_name": "IQ motif and SEC7 domain-containing protein 1", "disease": [ { "disease_id": "DOID:0111674", "name": "intellectual developmental disorder with short stature and behavioral abnormalities", "description": "A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1.", "url": "https://disease-ontology.org/term/DOID:0111674", "evidence": [ { "id": "0111674", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111674" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S2", "url": "https://www.uniprot.org/uniprotkb/Q8R0S2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S2", "url": "https://www.uniprot.org/uniprotkb/Q8R0S2" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S2", "url": "https://www.uniprot.org/uniprotkb/Q8R0S2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S2", "url": "https://www.uniprot.org/uniprotkb/Q8R0S2" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S2", "url": 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"pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "Q9JHD2", "url": "https://www.uniprot.org/uniprotkb/Q9JHD2" } ], "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": "Q9JHD2", "url": "https://www.uniprot.org/uniprotkb/Q9JHD2" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q9JHD2", "url": "https://www.uniprot.org/uniprotkb/Q9JHD2" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q9JHD2", "url": "https://www.uniprot.org/uniprotkb/Q9JHD2" } ], "pmid": "" }, { 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"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": "Q8K1S5", "url": "https://www.uniprot.org/uniprotkb/Q8K1S5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S5", "url": "https://www.uniprot.org/uniprotkb/Q8K1S5" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S5", "url": "https://www.uniprot.org/uniprotkb/Q8K1S5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S5", "url": "https://www.uniprot.org/uniprotkb/Q8K1S5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S5", "url": "https://www.uniprot.org/uniprotkb/Q8K1S5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S5", "url": "https://www.uniprot.org/uniprotkb/Q8K1S5" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S5", "url": "https://www.uniprot.org/uniprotkb/Q8K1S5" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8K1S5", "url": "https://www.uniprot.org/uniprotkb/Q8K1S5" } ], "pmid": "" } ], 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"site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 182, "start_aa": "Thr", "end_pos": 182, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr182", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8K1S5-1" }, { "uniprot_canonical_ac": "O88986-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88986", "url": "https://www.uniprot.org/uniprotkb/O88986" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 416, "chemical_mass": 44931.0, "gene_names": "Gcat;Gcat;Kbl", "protein_name": "2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial", "disease": [], "biological_process": [ { "name": "L-threonine catabolic process to glycine", "id": "GO:0019518", "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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"kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NSW3", "url": "https://www.uniprot.org/uniprotkb/Q6NSW3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6NSW3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NSW3" } ] } ] }, { "uniprot_canonical_ac": "Q6NSW3-1", "start_pos": "1273", "end_pos": "1273", "site_lbl": "Ser1273", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NSW3", "url": "https://www.uniprot.org/uniprotkb/Q6NSW3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6NSW3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NSW3" } ] } ] }, { "uniprot_canonical_ac": "Q6NSW3-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Leu205", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (LSS->NSS).", "chr_id": "1", "chr_pos": "83256274_83256275insACAGTTCCAGCAGACCCACTCAGAGTGCCCTAGAAGTTGC", "evidence": [ { "id": "rs3390225993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390225993" } ] } ] } ], "record_id": "Q6NSW3-1" }, { "uniprot_canonical_ac": "Q8R3P9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1054, "chemical_mass": 121004.0, "gene_names": "Slf1;2700017A04Rik;Ankrd32;Brctd1;Brctx;C730024G01Rik;Slf1", "protein_name": "SMC5-SMC6 complex localization factor protein 1", "disease": [], "biological_process": [ { "name": "protein localization to site of double-strand break", "id": "GO:1990166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990166", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "positive regulation of maintenance of mitotic sister chromatid cohesion", "id": "GO:0034184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034184", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "nuclear inclusion body", "id": "GO:0042405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042405", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P9", "url": "https://www.uniprot.org/uniprotkb/Q8R3P9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R3P9-1" }, { "uniprot_canonical_ac": "Q91WK1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WK1", "url": "https://www.uniprot.org/uniprotkb/Q91WK1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 207, "chemical_mass": 23275.0, "gene_names": "Spryd4;4633402N23Rik;Spryd4", "protein_name": "SPRY domain-containing protein 4", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91WK1", "url": "https://www.uniprot.org/uniprotkb/Q91WK1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91WK1", "url": "https://www.uniprot.org/uniprotkb/Q91WK1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q91WK1-1" }, { "uniprot_canonical_ac": "P17742-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 164, "chemical_mass": 17971.0, "gene_names": "Ppia;Cphn;CyP-18;CypA;Ppia;SP18", "protein_name": "Peptidyl-prolyl cis-trans isomerase A", "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:12506", "name": "Bell's palsy", "description": "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve).", "url": "https://disease-ontology.org/term/DOID:12506", "evidence": [ { "id": "12506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12506" } ], "weight": 0.0 }, { "disease_id": "DOID:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of apoptotic signaling pathway", "id": "GO:2001233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001233", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "activation of protein kinase B activity", "id": "GO:0032148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032148", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "chylomicron assembly", "id": "GO:0034378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034378", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "endothelial cell activation", "id": "GO:0042118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902176", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "lipid droplet organization", "id": "GO:0034389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034389", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "protein peptidyl-prolyl isomerization", "id": "GO:0000413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000413", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "cell adhesion molecule production", "id": "GO:0060352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060352", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "positive regulation of viral genome replication", "id": "GO:0045070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045070", "evidence": [ { "database": "UniProtKB", "id": "P17742", "url": "https://www.uniprot.org/uniprotkb/P17742" } ], "pmid": "" }, { "name": "regulation of viral genome 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] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Asp256", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43023381", "evidence": [ { "id": "rs3388667465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388667465" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Gln257", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43023380", "evidence": [ { "id": "rs3388677010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388677010" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Gln260", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43023371", "evidence": [ { "id": "rs3388679258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679258" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Val274", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022725", "evidence": [ { "id": "rs3388676869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388676869" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Asn283", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022698", "evidence": [ { "id": "rs3388679077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679077" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Gly288", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022684", "evidence": [ { "id": "rs3388676987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388676987" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Tyr301", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022645", "evidence": [ { "id": "rs3388676947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388676947" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Gly338", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022122", "evidence": [ { "id": "rs3388679047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679047" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Gly341", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022112", "evidence": [ { "id": "rs3412902180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412902180" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Val343", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022106", "evidence": [ { "id": "rs3388671545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388671545" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Asp353", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022076", "evidence": [ { "id": "rs3388676528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388676528" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ala361", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022052", "evidence": [ { "id": "rs5526565893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526565893" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Leu362", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022050", "evidence": [ { "id": "rs5526489187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526489187" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Val365", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022041", "evidence": [ { "id": "rs3388666043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388666043" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Ala367", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022034", "evidence": [ { "id": "rs3388677029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388677029" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Gln373", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43022017", "evidence": [ { "id": "rs3388679260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679260" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Gln409", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021691", "evidence": [ { "id": "rs239717620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239717620" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Gln42", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43024948", "evidence": [ { "id": "rs253394799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253394799" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Ala489", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021451", "evidence": [ { "id": "rs3147290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3147290" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Leu511", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021385", "evidence": [ { "id": "rs220843956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220843956" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ala541", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021295", "evidence": [ { "id": "rs235734911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235734911" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "542", "end_pos": "542", "site_lbl": "Pro542", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021293", "evidence": [ { "id": "rs217568779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217568779" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Cys61", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43024892", "evidence": [ { "id": "rs3394217329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394217329" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "620", "end_pos": "620", "site_lbl": "Ala620", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021058", "evidence": [ { "id": "rs5526582665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526582665" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "621", "end_pos": "621", "site_lbl": "His621", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43021054", "evidence": [ { "id": "rs252985487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252985487" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Trp62", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43024890", "evidence": [ { "id": "rs3394198031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394198031" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Pro64", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43024884", "evidence": [ { "id": "rs3393910375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393910375" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Leu703", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020809", "evidence": [ { "id": "rs3394217338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394217338" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Phe704", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020807", "evidence": [ { "id": "rs3394125917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394125917" } ] }, { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020805", "evidence": [ { "id": "rs3394168323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394168323" } ] }, { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020806", "evidence": [ { "id": "rs3394217330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394217330" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Met709", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020792", "evidence": [ { "id": "rs251534891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251534891" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "726", "end_pos": "726", "site_lbl": "Ala726", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020741", "evidence": [ { "id": "rs262406265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262406265" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "749", "end_pos": "749", "site_lbl": "Met749", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020670", "evidence": [ { "id": "rs3507733556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507733556" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Val757", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020648", "evidence": [ { "id": "rs229095379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229095379" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "804", "end_pos": "804", "site_lbl": "His804", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020506", "evidence": [ { "id": "rs27830214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27830214" } ] } ] }, { "uniprot_canonical_ac": "Q9JJI6-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Lys817", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "4", "chr_pos": "43020467", "evidence": [ { "id": "rs27830215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27830215" } ] } ] }, 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stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of 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"somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "nodal signaling pathway", "id": "GO:0038092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038092", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0002520", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "transdifferentiation", "id": "GO:0060290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060290", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix assembly", "id": "GO:1901203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901203", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy in response to stress", "id": "GO:1903243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903243", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "embryonic foregut morphogenesis", "id": "GO:0048617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048617", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "pericardium development", "id": "GO:0060039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060039", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "trophoblast cell migration", "id": "GO:0061450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061450", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "response to angiotensin", "id": "GO:1990776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990776", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta3 production", "id": "GO:0032916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032916", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "lens fiber cell differentiation", "id": "GO:0070306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070306", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "regulation of transforming growth factor beta2 production", "id": "GO:0032909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032909", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "positive regulation of alkaline phosphatase activity", "id": "GO:0010694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010694", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" } ], "molecular_function": [ { "name": "co-SMAD binding", "id": "GO:0070410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070410", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "nuclear mineralocorticoid receptor binding", "id": "GO:0031962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031962", "evidence": [ { "database": "UniProtKB", "id": "Q8BUN5", "url": "https://www.uniprot.org/uniprotkb/Q8BUN5" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": 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"kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPQ6", "url": "https://www.uniprot.org/uniprotkb/Q6ZPQ6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZPQ6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPQ6" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPQ6-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Lys650", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KRS->NRS).", "chr_id": "5", "chr_pos": "124267289", "evidence": [ { "id": "rs3388773140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388773140" } ] } ] } ], "record_id": "Q6ZPQ6-1" }, { "uniprot_canonical_ac": "P15314-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": 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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: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: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:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8736", "name": "smallpox", "description": "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. 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"" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "response to growth hormone", "id": "GO:0060416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060416", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of T-helper 1 cell differentiation", "id": "GO:0045627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045627", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "negative regulation of T-helper 2 cell differentiation", "id": "GO:0045629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045629", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "negative regulation of regulatory T cell differentiation", "id": "GO:0045590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045590", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "regulation of adaptive immune response", "id": "GO:0002819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002819", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "toll-like receptor 3 signaling pathway", "id": "GO:0034138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034138", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell differentiation", "id": "GO:0032825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032825", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "negative regulation of protein modification process", "id": "GO:0031400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031400", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "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": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P15314", "url": "https://www.uniprot.org/uniprotkb/P15314" } ], "pmid": "" }, { "name": "RNA 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