{ "glytoucan_ac": "G00433UK", "species": [ { "taxid": 9606, "name": "Homo sapiens", "annotation_category": "direct", "evidence": [ { "database": "GlyConnect", "id": "1062", "url": "https://glyconnect.expasy.org/browser/compositions/1062" }, { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mass": 3480.23, "classification": [ { "type": { "name": "Other", "url": "" }, "subtype": { "name": "Other", "url": "" } } ], "composition": [ { "name": "6-Deoxy-Hexose", "residue": "dhex", "count": 1, "cid": "840", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/840" }, { "name": "Hexose", "residue": "hex", "count": 8, "cid": "206", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/206" }, { "name": "N-Acetylhexosamine", "residue": "hexnac", "count": 7, "cid": "899", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/899" }, { "name": "Hexuronic Acid", "residue": "hexa", "count": 0, "cid": "610", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/610" }, { "name": "2-Amino-2-Deoxy-Hexose", "residue": "hexn", "count": 0, "cid": "739", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/739" }, { "name": "N-Acetyl-Neuraminic Acid", "residue": "neuac", "count": 1, "cid": "439197", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/439197" }, { "name": "N-Glycolyl-Neuraminic Acid", "residue": "neugc", "count": 1, "cid": "440001", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/440001" }, { "name": "Phosphate", "residue": "p", "count": 0, "cid": "1061", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/1061" }, { "name": "Pentose", "residue": "pent", "count": 0, "cid": "229", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/229" }, { "name": "Sulfate", "residue": "s", "count": 0, "cid": "1117", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/1117" }, { "name": "Other", "residue": "other", "count": 0 } ], "motifs": [], "enzyme": [], "biomarkers": [], "binding_proteins": [], "sites": [ { "start_pos": "275", "site_seq": "N", "site_lbl": "Asn275", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P07911-1", "start_pos": 275, "end_pos": 275, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "613", "url": "https://glyconnect.expasy.org/browser/proteins/613" } ], "protein_name": "Uromodulin", "gene_name": "UMOD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 640, "chemical_mass": 69761.0 } ] }, { "start_pos": "275", "site_seq": "N", "site_lbl": "Asn275", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P07911-1", "start_pos": 275, "end_pos": 275, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "613", "url": "https://glyconnect.expasy.org/browser/proteins/613" } ], "protein_name": "Uromodulin", "gene_name": "UMOD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 640, "chemical_mass": 69761.0 } ] }, { "start_pos": "275", "site_seq": "N", "site_lbl": "Asn275", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P07911-1", "start_pos": 275, "end_pos": 275, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "613", "url": "https://glyconnect.expasy.org/browser/proteins/613" } ], "protein_name": "Uromodulin", "gene_name": "UMOD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 640, "chemical_mass": 69761.0 } ] }, { "start_pos": "275", "site_seq": "", "site_lbl": "N275", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "16", "chr_pos": "20348477", "evidence": [ { "id": "P07911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07911" }, { "id": "rs778754785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778754785" }, { "id": "rs778754785", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778754785" }, { "id": "rs778754785", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778754785#frequency_tab" }, { "id": "rs778754785", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778754785" } ], "disease": [ { "disease_id": "DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "url": "http://disease-ontology.org/term/DOID:1319", "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->YLT).", "chr_id": "16", "chr_pos": "20348478", "evidence": [ { "id": "rs982409965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs982409965" }, { "id": "rs982409965", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs982409965" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P07911-1", "start_pos": 275, "end_pos": 275, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "613", "url": "https://glyconnect.expasy.org/browser/proteins/613" } ], "protein_name": "Uromodulin", "gene_name": "UMOD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 640, "chemical_mass": 69761.0 } ] }, { "start_pos": "275", "site_seq": "N", "site_lbl": "Asn275", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P07911-1", "start_pos": 275, "end_pos": 275, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "613", "url": "https://glyconnect.expasy.org/browser/proteins/613" } ], "protein_name": "Uromodulin", "gene_name": "UMOD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 640, "chemical_mass": 69761.0 } ] }, { "start_pos": "275", "site_seq": "", "site_lbl": "N275", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "16", "chr_pos": "20348477", "evidence": [ { "id": "P07911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07911" }, { "id": "rs778754785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778754785" }, { "id": "rs778754785", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778754785" }, { "id": "rs778754785", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778754785#frequency_tab" }, { "id": "rs778754785", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778754785" } ], "disease": [ { "disease_id": "DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "url": "http://disease-ontology.org/term/DOID:1319", "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->YLT).", "chr_id": "16", "chr_pos": "20348478", "evidence": [ { "id": "rs982409965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs982409965" }, { "id": "rs982409965", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs982409965" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P07911-1", "start_pos": 275, "end_pos": 275, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "613", "url": "https://glyconnect.expasy.org/browser/proteins/613" } ], "protein_name": "Uromodulin", "gene_name": "UMOD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 640, "chemical_mass": 69761.0 } ] }, { "start_pos": "337", "site_seq": "N", "site_lbl": "Asn337", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM5-1", "start_pos": 337, "end_pos": 337, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "641", "url": "https://glyconnect.expasy.org/browser/proteins/641" } ], "protein_name": "Protein YIPF3", "gene_name": "YIPF3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 350, "chemical_mass": 38248.0 } ] }, { "start_pos": "337", "site_seq": "LPTTVLNATAK", "site_lbl": "Asn337", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM5-1", "start_pos": 337, "end_pos": 337, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "641", "url": "https://glyconnect.expasy.org/browser/proteins/641" } ], "protein_name": "Protein YIPF3", "gene_name": "YIPF3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 350, "chemical_mass": 38248.0 } ] }, { "start_pos": "337", "site_seq": "N", "site_lbl": "Asn337", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM5-1", "start_pos": 337, "end_pos": 337, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "641", "url": "https://glyconnect.expasy.org/browser/proteins/641" } ], "protein_name": "Protein YIPF3", "gene_name": "YIPF3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 350, "chemical_mass": 38248.0 } ] }, { "start_pos": "337", "site_seq": "LPTTVLNATAK", "site_lbl": "Asn337", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM5-1", "start_pos": 337, "end_pos": 337, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "641", "url": "https://glyconnect.expasy.org/browser/proteins/641" } ], "protein_name": "Protein YIPF3", "gene_name": "YIPF3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 350, "chemical_mass": 38248.0 } ] }, { "start_pos": "337", "site_seq": "N", "site_lbl": "Asn337", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM5-1", "start_pos": 337, "end_pos": 337, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "641", "url": "https://glyconnect.expasy.org/browser/proteins/641" } ], "protein_name": "Protein YIPF3", "gene_name": "YIPF3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 350, "chemical_mass": 38248.0 } ] }, { "start_pos": "337", "site_seq": "LPTTVLNATAK", "site_lbl": "Asn337", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM5-1", "start_pos": 337, "end_pos": 337, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "641", "url": "https://glyconnect.expasy.org/browser/proteins/641" } ], "protein_name": "Protein YIPF3", "gene_name": "YIPF3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 350, "chemical_mass": 38248.0 } ] }, { "start_pos": "337", "site_seq": "", "site_lbl": "N337", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->TAT).", "chr_id": "6", "chr_pos": "43512210", "evidence": [ { "id": "rs1561852157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1561852157" }, { "id": "rs1561852157", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1561852157" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM5-1", "start_pos": 337, "end_pos": 337, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "641", "url": "https://glyconnect.expasy.org/browser/proteins/641" } ], "protein_name": "Protein YIPF3", "gene_name": "YIPF3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 350, "chemical_mass": 38248.0 } ] }, { "start_pos": "337", "site_seq": "N", "site_lbl": "Asn337", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM5-1", "start_pos": 337, "end_pos": 337, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "641", "url": "https://glyconnect.expasy.org/browser/proteins/641" } ], "protein_name": "Protein YIPF3", "gene_name": "YIPF3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 350, "chemical_mass": 38248.0 } ] }, { "start_pos": "337", "site_seq": "LPTTVLNATAK", "site_lbl": "Asn337", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM5-1", "start_pos": 337, "end_pos": 337, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "641", "url": "https://glyconnect.expasy.org/browser/proteins/641" } ], "protein_name": "Protein YIPF3", "gene_name": "YIPF3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 350, "chemical_mass": 38248.0 } ] }, { "start_pos": "337", "site_seq": "", "site_lbl": "N337", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->TAT).", "chr_id": "6", "chr_pos": "43512210", "evidence": [ { "id": "rs1561852157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1561852157" }, { "id": "rs1561852157", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1561852157" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM5-1", "start_pos": 337, "end_pos": 337, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "641", "url": "https://glyconnect.expasy.org/browser/proteins/641" } ], "protein_name": "Protein YIPF3", "gene_name": "YIPF3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 350, "chemical_mass": 38248.0 } ] }, { "start_pos": "78", "site_seq": "N", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "SVVAPATDGGLnLTSTFLR", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "SVVAPATDGGLnLTSTFLRK", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "N", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "SVVAPATDGGLnLTSTFLR", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "SVVAPATDGGLnLTSTFLRK", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "N", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "SVVAPATDGGLnLTSTFLR", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "SVVAPATDGGLnLTSTFLRK", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "", "site_lbl": "N78", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "9", "chr_pos": "136979111", "evidence": [ { "id": "P41222", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P41222" }, { "id": "rs750840590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750840590" }, { "id": "rs750840590", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750840590" }, { "id": "rs750840590", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750840590" } ], "disease": [ { "disease_id": "DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "url": "http://disease-ontology.org/term/DOID:4159", "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "N", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "SVVAPATDGGLnLTSTFLR", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "SVVAPATDGGLnLTSTFLRK", "site_lbl": "Asn78", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] }, { "start_pos": "78", "site_seq": "", "site_lbl": "N78", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "9", "chr_pos": "136979111", "evidence": [ { "id": "P41222", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P41222" }, { "id": "rs750840590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750840590" }, { "id": "rs750840590", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750840590" }, { "id": "rs750840590", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750840590" } ], "disease": [ { "disease_id": "DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "url": "http://disease-ontology.org/term/DOID:4159", "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P41222-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "GlyConnect", "id": "685", "url": "https://glyconnect.expasy.org/browser/proteins/685" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "PTGDS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 190, "chemical_mass": 21029.0 } ] } ], "record_id": "G00433UK" }