{ "glytoucan_ac": "G11115RO", "species": [ { "taxid": 9031, "name": "Gallus gallus", "annotation_category": "subsumption", "evidence": [ { "database": "Subsumption", "id": "G36107HL", "url": "https://www.glygen.org/glycan/G36107HL" }, { "database": "Subsumption", "id": "G66088HZ", "url": "https://www.glygen.org/glycan/G66088HZ" } ], "common_name": "Chicken", "glygen_name": "Chicken", "reference_species": "Gallus gallus [9031]" }, { "taxid": 9606, "name": "Homo sapiens", "annotation_category": "both", "evidence": [ { "database": "Subsumption", "id": "G66088HZ", "url": "https://www.glygen.org/glycan/G66088HZ" }, { "database": "Subsumption", "id": "G42380GI", "url": "https://www.glygen.org/glycan/G42380GI" }, { "database": "Subsumption", "id": "G56963QZ", "url": "https://www.glygen.org/glycan/G56963QZ" }, { "database": "Subsumption", "id": "G79224FW", "url": "https://www.glygen.org/glycan/G79224FW" }, { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000888", "url": "https://data.glygen.org/GLY_000888" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "GlyCosmos", "id": "G11115RO", "url": "https://glycosmos.org/glycans/show/G11115RO" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" }, { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "PubMed", "id": "29792883", "url": "https://glygen.org/publication/PubMed/29792883" }, { "database": "PubMed", "id": "30093973", "url": "https://glygen.org/publication/PubMed/30093973" }, { "database": "PubMed", "id": "30251656", "url": "https://glygen.org/publication/PubMed/30251656" }, { "database": "PubMed", "id": "30844485", "url": "https://glygen.org/publication/PubMed/30844485" }, { "database": "PubMed", "id": "32898301", "url": "https://glygen.org/publication/PubMed/32898301" }, { "database": "PubMed", "id": "33877489", "url": "https://glygen.org/publication/PubMed/33877489" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PubMed", "id": "37485378", "url": "https://glygen.org/publication/PubMed/37485378" }, { "database": "GlyGen", "id": "GLY_001408", "url": "https://data.glygen.org/GLY_001408" }, { "database": "UniCarbKB", "id": "GLY_000341", "url": "http://data.glygen.org/GLY_000341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" }, { "taxid": 10090, "name": "Mus musculus", "annotation_category": "both", "evidence": [ { "database": "Subsumption", "id": "G66088HZ", "url": "https://www.glygen.org/glycan/G66088HZ" }, { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" }, { "taxid": 2697049, "name": "Severe acute respiratory syndrome coronavirus 2", "annotation_category": "both", "evidence": [ { "database": "Subsumption", "id": "G66088HZ", "url": "https://www.glygen.org/glycan/G66088HZ" }, { "database": "PubMed", "id": "32366695", "url": "https://glygen.org/publication/PubMed/32366695" }, { "database": "PubMed", "id": "33064451", "url": "https://glygen.org/publication/PubMed/33064451" }, { "database": "PubMed", "id": "33077685", "url": "https://glygen.org/publication/PubMed/33077685" }, { "database": "UniCarbKB", "id": "GLY_000341", "url": "http://data.glygen.org/GLY_000341" } ], "common_name": "2019-nCoV", "glygen_name": "SARS-CoV-2", "reference_species": "Severe acute respiratory syndrome coronavirus 2 [2697049]" }, { "taxid": 10029, "name": "Cricetulus griseus", "annotation_category": "subsumption", "evidence": [ { "database": "Subsumption", "id": "G05203UQ", "url": "https://www.glygen.org/glycan/G05203UQ" }, { "database": "Subsumption", "id": "G42380GI", "url": "https://www.glygen.org/glycan/G42380GI" }, { "database": "Subsumption", "id": "G51949TL", "url": "https://www.glygen.org/glycan/G51949TL" }, { "database": "Subsumption", "id": "G56963QZ", "url": "https://www.glygen.org/glycan/G56963QZ" }, { "database": "Subsumption", "id": "G79224FW", "url": "https://www.glygen.org/glycan/G79224FW" } ], "common_name": "Chinese hamster", "glygen_name": "Hamster", "reference_species": "Cricetulus griseus [10029]" }, { "taxid": 10116, "name": "Rattus norvegicus", "annotation_category": "direct", "evidence": [ { "database": "PubMed", "id": "34106099", "url": "https://glygen.org/publication/PubMed/34106099" }, { "database": "UniCarbKB", "id": "GLY_000341", "url": "http://data.glygen.org/GLY_000341" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "mass": 3535.24, "classification": [ { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Bisected" } }, { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Complex", "url": "" } }, { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Tetraantennary" } } ], "composition": [ { "name": "6-Deoxy-Hexose", "residue": "dhex", "count": 0, "cid": "840", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/840" }, { "name": "Hexose", "residue": "hex", "count": 7, "cid": "206", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/206" }, { "name": "N-Acetylhexosamine", "residue": "hexnac", "count": 6, "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": 4, "cid": "439197", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/439197" }, { "name": "N-Glycolyl-Neuraminic Acid", "residue": "neugc", "count": 0, "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": "106", "site_seq": "N", "site_lbl": "Asn106", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 106, "end_pos": 106, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "106", "site_seq": "FnLTETSEAEIHQSFQHLLR", "site_lbl": "Asn106", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 106, "end_pos": 106, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "127", "site_seq": "TLnQSSDELQLSMGNAMFVK", "site_lbl": "Asn127", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 127, "end_pos": 127, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "127", "site_seq": "N", "site_lbl": "Asn127", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 127, "end_pos": 127, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "271", "site_seq": "N", "site_lbl": "Asn271", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 271, "end_pos": 271, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "271", "site_seq": "YTGnASALFILPDQDKMEEVEAMLLPETLK", "site_lbl": "Asn271", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 271, "end_pos": 271, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "271", "site_seq": "YTGnASALFILPDQDK", "site_lbl": "Asn271", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 271, "end_pos": 271, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "93", "site_seq": "N", "site_lbl": "Asn93", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 93, "end_pos": 93, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "93", "site_seq": "NVIFSPLSISTALAFLSLGAHnTTLTEILK", "site_lbl": "Asn93", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 93, "end_pos": 93, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "106", "site_seq": "", "site_lbl": "N106", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "14", "chr_pos": "94614759", "evidence": [ { "id": "rs1885922817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1885922817" }, { "id": "rs1885922817", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1885922817" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 106, "end_pos": 106, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "127", "site_seq": "", "site_lbl": "N127", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NQS->SQS).", "chr_id": "14", "chr_pos": "94614821", "evidence": [ { "id": "P01011", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P01011" }, { "id": "rs145819878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145819878" }, { "id": "rs145819878", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145819878" }, { "id": "rs145819878", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145819878#frequency_tab" }, { "id": "rs145819878", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145819878" }, { "id": "rs145819878", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145819878" } ], "disease": [ { "disease_id": "DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney.", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 127, "end_pos": 127, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "271", "site_seq": "", "site_lbl": "N271", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "14", "chr_pos": "94619363", "evidence": [ { "id": "rs534010283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534010283" }, { "id": "rs534010283", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs534010283" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 271, "end_pos": 271, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "93", "site_seq": "", "site_lbl": "N93", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->DTT).", "chr_id": "14", "chr_pos": "94614718", "evidence": [ { "id": "rs542942614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542942614" }, { "id": "rs542942614", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542942614" }, { "id": "rs542942614", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542942614" }, { "id": "rs542942614", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs542942614#frequency_tab" }, { "id": "rs542942614", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542942614" }, { "id": "rs542942614", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542942614" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NTT->HTT).", "chr_id": "14", "chr_pos": "94614718", "evidence": [ { "id": "P01011", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P01011" } ], "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" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->KTT).", "chr_id": "14", "chr_pos": "94614720", "evidence": [ { "id": "rs1031881430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1031881430" }, { "id": "rs1031881430", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1031881430" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P01011-1", "start_pos": 93, "end_pos": 93, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 47651.0 } ] }, { "start_pos": "333", "site_seq": "TVYVHAnQTGYPDPSSR", "site_lbl": "Asn333", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P16112-1", "start_pos": 333, "end_pos": 333, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Aggrecan core protein", "gene_name": "ACAN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 2530, "chemical_mass": 261329.0 } ] }, { "start_pos": "333", "site_seq": "TVYVHANQTGYPDPSSR", "site_lbl": "Asn333", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P16112-1", "start_pos": 333, "end_pos": 333, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Aggrecan core protein", "gene_name": "ACAN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 2530, "chemical_mass": 261329.0 } ] }, { "start_pos": "333", "site_seq": "N", "site_lbl": "Asn333", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P16112-1", "start_pos": 333, "end_pos": 333, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Aggrecan core protein", "gene_name": "ACAN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 2530, "chemical_mass": 261329.0 } ] }, { "start_pos": "658", "site_seq": "N", "site_lbl": "Asn658", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P16112-1", "start_pos": 658, "end_pos": 658, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Aggrecan core protein", "gene_name": "ACAN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 2530, "chemical_mass": 261329.0 } ] }, { "start_pos": "658", "site_seq": "TVYLYPNQTGLPDPLSR", "site_lbl": "Asn658", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P16112-1", "start_pos": 658, "end_pos": 658, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Aggrecan core protein", "gene_name": "ACAN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 2530, "chemical_mass": 261329.0 } ] }, { "start_pos": "333", "site_seq": "", "site_lbl": "N333", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->SQT).", "chr_id": "15", "chr_pos": "88843595", "evidence": [ { "id": "rs776721559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776721559" }, { "id": "rs776721559", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776721559" }, { "id": "rs776721559", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776721559#frequency_tab" }, { "id": "rs776721559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776721559" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P16112-1", "start_pos": 333, "end_pos": 333, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Aggrecan core protein", "gene_name": "ACAN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 2530, "chemical_mass": 261329.0 } ] }, { "start_pos": "658", "site_seq": "", "site_lbl": "N658", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->SQT).", "chr_id": "15", "chr_pos": "88849678", "evidence": [ { "id": "rs370283261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370283261" }, { "id": "rs370283261", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370283261" }, { "id": "rs370283261", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370283261#frequency_tab" }, { "id": "rs370283261", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370283261" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P16112-1", "start_pos": 658, "end_pos": 658, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Aggrecan core protein", "gene_name": "ACAN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 2530, "chemical_mass": 261329.0 } ] }, { "start_pos": "272", "site_seq": "N", "site_lbl": "Asn272", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01871-2", "start_pos": 272, "end_pos": 272, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Immunoglobulin heavy constant mu", "gene_name": "IGHM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 474, "chemical_mass": 51924.0 } ] }, { "start_pos": "272", "site_seq": "", "site_lbl": "N272", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->TIS).", "chr_id": "14", "chr_pos": "105855069", "evidence": [ { "id": "rs2142901381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2142901381" }, { "id": "rs2142901381", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2142901381" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P01871-2", "start_pos": 272, "end_pos": 272, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Immunoglobulin heavy constant mu", "gene_name": "IGHM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 474, "chemical_mass": 51924.0 } ] }, { "start_pos": "69", "site_seq": "MLFVEPILEVSSLPTTnSTTNSATK", "site_lbl": "Asn69", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05155-1", "start_pos": 69, "end_pos": 69, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Plasma protease C1 inhibitor", "gene_name": "SERPING1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 500, "chemical_mass": 55154.0 } ] }, { "start_pos": "69", "site_seq": "N", "site_lbl": "Asn69", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05155-1", "start_pos": 69, "end_pos": 69, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Plasma protease C1 inhibitor", "gene_name": "SERPING1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 500, "chemical_mass": 55154.0 } ] }, { "start_pos": "69", "site_seq": "", "site_lbl": "N69", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->DST).", "chr_id": "11", "chr_pos": "57600032", "evidence": [ { "id": "rs924552014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs924552014" }, { "id": "rs924552014", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs924552014#frequency_tab" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->HST).", "chr_id": "11", "chr_pos": "57600032", "evidence": [ { "id": "P05155", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05155" } ], "disease": [ { "disease_id": "DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus.", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST).", "chr_id": "11", "chr_pos": "57600033", "evidence": [ { "id": "rs1945329565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1945329565" }, { "id": "rs1945329565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1945329565" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P05155-1", "start_pos": 69, "end_pos": 69, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Plasma protease C1 inhibitor", "gene_name": "SERPING1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 500, "chemical_mass": 55154.0 } ] }, { "start_pos": "241", "site_seq": "VVLHPnYSQVDIGLIK", "site_lbl": "Asn241", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00738-1", "start_pos": 241, "end_pos": 241, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Haptoglobin", "gene_name": "HP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 406, "chemical_mass": 45205.0 } ] }, { "start_pos": "241", "site_seq": "N", "site_lbl": "Asn241", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00738-1", "start_pos": 241, "end_pos": 241, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Haptoglobin", "gene_name": "HP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 406, "chemical_mass": 45205.0 } ] }, { "start_pos": "241", "site_seq": "QLVEIEKVVLHPnYSQVDIGLIK", "site_lbl": "Asn241", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00738-1", "start_pos": 241, "end_pos": 241, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Haptoglobin", "gene_name": "HP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 406, "chemical_mass": 45205.0 } ] }, { "start_pos": "241", "site_seq": "VVLHPnYSQVDIGLIKLK", "site_lbl": "Asn241", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00738-1", "start_pos": 241, "end_pos": 241, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Haptoglobin", "gene_name": "HP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 406, "chemical_mass": 45205.0 } ] }, { "start_pos": "241", "site_seq": "", "site_lbl": "N241", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->DYS).", "chr_id": "16", "chr_pos": "72060390", "evidence": [ { "id": "rs2041524054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2041524054" }, { "id": "rs2041524054", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2041524054#frequency_tab" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->IYS).", "chr_id": "16", "chr_pos": "72060391", "evidence": [ { "id": "rs2041524101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2041524101" }, { "id": "rs2041524101", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2041524101" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P00738-1", "start_pos": 241, "end_pos": 241, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Haptoglobin", "gene_name": "HP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 406, "chemical_mass": 45205.0 } ] }, { "start_pos": "33", "site_seq": "N", "site_lbl": "Asn33", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 33, "end_pos": 33, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "56", "site_seq": "N", "site_lbl": "Asn56", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 56, "end_pos": 56, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "56", "site_seq": "NEEYnK", "site_lbl": "Asn56", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 56, "end_pos": 56, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "56", "site_seq": "WFYIASAFRNEEYnK", "site_lbl": "Asn56", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 56, "end_pos": 56, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "72", "site_seq": "N", "site_lbl": "Asn72", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 72, "end_pos": 72, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "72", "site_seq": "SVQEIQATFFYFTPnK", "site_lbl": "Asn72", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 72, "end_pos": 72, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "72", "site_seq": "SVQEIQATFFYFTPnKTEDTIFLR", "site_lbl": "Asn72", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 72, "end_pos": 72, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "93", "site_seq": "N", "site_lbl": "Asn93", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 93, "end_pos": 93, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "93", "site_seq": "QDQCIYnTTYLNVQR", "site_lbl": "Asn93", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 93, "end_pos": 93, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "33", "site_seq": "", "site_lbl": "N33", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "9", "chr_pos": "114323231", "evidence": [ { "id": "rs1159802835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159802835" }, { "id": "rs1159802835", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1159802835#frequency_tab" }, { "id": "rs1159802835", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159802835" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 33, "end_pos": 33, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "56", "site_seq": "", "site_lbl": "N56", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->HKS).", "chr_id": "9", "chr_pos": "114323714", "evidence": [ { "id": "rs1829721324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1829721324" }, { "id": "rs1829721324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1829721324#frequency_tab" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->KKS).", "chr_id": "9", "chr_pos": "114323716", "evidence": [ { "id": "rs1333212608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333212608" }, { "id": "rs1333212608", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1333212608#frequency_tab" }, { "id": "rs1333212608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1333212608" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->SKS).", "chr_id": "9", "chr_pos": "114323715", "evidence": [ { "id": "rs775749216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775749216" }, { "id": "rs775749216", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775749216" }, { "id": "rs775749216", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775749216" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 56, "end_pos": 56, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "72", "site_seq": "", "site_lbl": "N72", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->HKT).", "chr_id": "9", "chr_pos": "114323762", "evidence": [ { "id": "rs1829722391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1829722391" }, { "id": "rs1829722391", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1829722391" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->KKT).", "chr_id": "9", "chr_pos": "114323764", "evidence": [ { "id": "rs1588922174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1588922174" }, { "id": "rs1588922174", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1588922174" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->SKT).", "chr_id": "9", "chr_pos": "114323763", "evidence": [ { "id": "rs746201043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746201043" }, { "id": "rs746201043", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746201043" }, { "id": "rs746201043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746201043#frequency_tab" }, { "id": "rs746201043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746201043" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 72, "end_pos": 72, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "93", "site_seq": "", "site_lbl": "N93", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->STT).", "chr_id": "9", "chr_pos": "114324038", "evidence": [ { "id": "rs775455856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775455856" }, { "id": "rs775455856", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775455856" }, { "id": "rs775455856", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775455856#frequency_tab" }, { "id": "rs775455856", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775455856" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->TTT).", "chr_id": "9", "chr_pos": "114324038", "evidence": [ { "id": "rs775455856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775455856" }, { "id": "rs775455856", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775455856" }, { "id": "rs775455856", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775455856#frequency_tab" }, { "id": "rs775455856", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775455856" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02763-1", "start_pos": 93, "end_pos": 93, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23540.0 } ] }, { "start_pos": "33", "site_seq": "N", "site_lbl": "Asn33", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P19652-1", "start_pos": 33, "end_pos": 33, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-1-acid glycoprotein 2", "gene_name": "ORM2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23603.0 } ] }, { "start_pos": "93", "site_seq": "QNQCFYnSSYLNVQR", "site_lbl": "Asn93", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P19652-1", "start_pos": 93, "end_pos": 93, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 2", "gene_name": "ORM2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23603.0 } ] }, { "start_pos": "93", "site_seq": "N", "site_lbl": "Asn93", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P19652-1", "start_pos": 93, "end_pos": 93, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-1-acid glycoprotein 2", "gene_name": "ORM2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23603.0 } ] }, { "start_pos": "33", "site_seq": "", "site_lbl": "N33", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->KAT).", "chr_id": "9", "chr_pos": "114330003", "evidence": [ { "id": "rs781288368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781288368" }, { "id": "rs781288368", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781288368" }, { "id": "rs781288368", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781288368" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P19652-1", "start_pos": 33, "end_pos": 33, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-1-acid glycoprotein 2", "gene_name": "ORM2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 201, "chemical_mass": 23603.0 } ] }, { "start_pos": "465", "site_seq": "N", "site_lbl": "Asn465", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q12980-1", "start_pos": 465, "end_pos": 465, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "GATOR1 complex protein NPRL3", "gene_name": "NPRL3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 569, "chemical_mass": 63605.0 } ] }, { "start_pos": "85", "site_seq": "TVLTPATNHMGnVTFTIPANR", "site_lbl": "Asn85", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01024-1", "start_pos": 85, "end_pos": 85, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Complement C3", "gene_name": "C3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1663, "chemical_mass": 187148.0 } ] }, { "start_pos": "85", "site_seq": "N", "site_lbl": "Asn85", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01024-1", "start_pos": 85, "end_pos": 85, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Complement C3", "gene_name": "C3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1663, "chemical_mass": 187148.0 } ] }, { "start_pos": "85", "site_seq": "TVLTPATNHMGNVTFTIPANR", "site_lbl": "Asn85", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01024-1", "start_pos": 85, "end_pos": 85, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Complement C3", "gene_name": "C3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1663, "chemical_mass": 187148.0 } ] }, { "start_pos": "169", "site_seq": "N", "site_lbl": "Asn169", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01042-1", "start_pos": 169, "end_pos": 169, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Kininogen-1", "gene_name": "KNG1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 644, "chemical_mass": 71957.0 } ] }, { "start_pos": "169", "site_seq": "HGIQYFNnNTQHSSLFMLNEVK", "site_lbl": "Asn169", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01042-1", "start_pos": 169, "end_pos": 169, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Kininogen-1", "gene_name": "KNG1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 644, "chemical_mass": 71957.0 } ] }, { "start_pos": "205", "site_seq": "ITYSIVQTnCSK", "site_lbl": "Asn205", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01042-1", "start_pos": 205, "end_pos": 205, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Kininogen-1", "gene_name": "KNG1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 644, "chemical_mass": 71957.0 } ] }, { "start_pos": "205", "site_seq": "N", "site_lbl": "Asn205", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01042-1", "start_pos": 205, "end_pos": 205, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Kininogen-1", "gene_name": "KNG1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 644, "chemical_mass": 71957.0 } ] }, { "start_pos": "205", "site_seq": "ITYSIVQTnCSKENFLFLTPDCK", "site_lbl": "Asn205", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01042-1", "start_pos": 205, "end_pos": 205, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Kininogen-1", "gene_name": "KNG1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 644, "chemical_mass": 71957.0 } ] }, { "start_pos": "294", "site_seq": "N", "site_lbl": "Asn294", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01042-1", "start_pos": 294, "end_pos": 294, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Kininogen-1", "gene_name": "KNG1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 644, "chemical_mass": 71957.0 } ] }, { "start_pos": "294", "site_seq": "LNAENnATFYFK", "site_lbl": "Asn294", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01042-1", "start_pos": 294, "end_pos": 294, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Kininogen-1", "gene_name": "KNG1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 644, "chemical_mass": 71957.0 } ] }, { "start_pos": "169", "site_seq": "", "site_lbl": "N169", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->DNT).", "chr_id": "3", "chr_pos": "186725201", "evidence": [ { "id": "rs2108623231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108623231" }, { "id": "rs2108623231", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2108623231" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->INT).", "chr_id": "3", "chr_pos": "186725202", "evidence": [ { "id": "rs2108623235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108623235" }, { "id": "rs2108623235", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2108623235" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->KNT).", "chr_id": "3", "chr_pos": "186725203", "evidence": [ { "id": "rs2108623237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108623237" }, { "id": "rs2108623237", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2108623237" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->TNT).", "chr_id": "3", "chr_pos": "186725202", "evidence": [ { "id": "rs2108623235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108623235" }, { "id": "rs2108623235", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2108623235" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P01042-1", "start_pos": 169, "end_pos": 169, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Kininogen-1", "gene_name": "KNG1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 644, "chemical_mass": 71957.0 } ] }, { "start_pos": "205", "site_seq": "", "site_lbl": "N205", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCS->ICS).", "chr_id": "3", "chr_pos": "186727286", "evidence": [ { "id": "P01042", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P01042" }, { "id": "rs768936464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768936464" }, { "id": "rs768936464", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768936464" }, { "id": "rs768936464", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768936464" }, { "id": "rs768936464", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768936464" } ], "disease": [ { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCS->TCS).", "chr_id": "3", "chr_pos": "186727286", "evidence": [ { "id": "P01042", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P01042" } ], "disease": [ { "disease_id": "DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney.", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P01042-1", "start_pos": 205, "end_pos": 205, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Kininogen-1", "gene_name": "KNG1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 644, "chemical_mass": 71957.0 } ] }, { "start_pos": "205", "site_seq": "N", "site_lbl": "Asn205", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P31596-1", "start_pos": 205, "end_pos": 205, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "34106099", "url": "https://glygen.org/publication/PubMed/34106099" }, { "database": "UniCarbKB", "id": "GLY_000221", "url": "http://data.glygen.org/GLY_000221" }, { "database": "DOI", "id": "10.1039/D0MO00044B", "url": "https://glygen.org/publication/DOI/10.1039/D0MO00044B" } ], "protein_name": "Excitatory amino acid transporter 2", "gene_name": "Slc1a2", "tax_id": 10116, "tax_name": "Rattus norvegicus", "tax_common_name": "Rat", "length": 573, "chemical_mass": 62106.0 } ] }, { "start_pos": "215", "site_seq": "N", "site_lbl": "Asn215", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P31596-1", "start_pos": 215, "end_pos": 215, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "34106099", "url": "https://glygen.org/publication/PubMed/34106099" }, { "database": "UniCarbKB", "id": "GLY_000221", "url": "http://data.glygen.org/GLY_000221" }, { "database": "DOI", "id": "10.1039/D0MO00044B", "url": "https://glygen.org/publication/DOI/10.1039/D0MO00044B" } ], "protein_name": "Excitatory amino acid transporter 2", "gene_name": "Slc1a2", "tax_id": 10116, "tax_name": "Rattus norvegicus", "tax_common_name": "Rat", "length": 573, "chemical_mass": 62106.0 } ] }, { "start_pos": "285", "site_seq": "IVLDPSGSMNIYLVLDGSDSIGASnFTGAK", "site_lbl": "Asn285", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00751-1", "start_pos": 285, "end_pos": 285, "residue": "Asn", "evidence": [ { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" } ], "protein_name": "Complement factor B", "gene_name": "CFB", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 764, "chemical_mass": 85533.0 } ] }, { "start_pos": "285", "site_seq": "N", "site_lbl": "Asn285", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00751-1", "start_pos": 285, "end_pos": 285, "residue": "Asn", "evidence": [ { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" } ], "protein_name": "Complement factor B", "gene_name": "CFB", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 764, "chemical_mass": 85533.0 } ] }, { "start_pos": "285", "site_seq": "", "site_lbl": "N285", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT).", "chr_id": "6", "chr_pos": "31948038", "evidence": [ { "id": "rs2482685674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2482685674" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P00751-1", "start_pos": 285, "end_pos": 285, "residue": "Asn", "evidence": [ { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" } ], "protein_name": "Complement factor B", "gene_name": "CFB", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 764, "chemical_mass": 85533.0 } ] }, { "start_pos": "107", "site_seq": "N", "site_lbl": "Asn107", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01009-1", "start_pos": 107, "end_pos": 107, "residue": "Asn", "evidence": [ { "database": "GPTwiki", "id": "G11115RO", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/G11115RO" } ], "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 418, "chemical_mass": 46737.0 } ] }, { "start_pos": "187", "site_seq": "GVLMVGNETTYEDGHGSR", "site_lbl": "Asn187", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IWA5-1", "start_pos": 187, "end_pos": 187, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "Choline transporter-like protein 2", "gene_name": "SLC44A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 706, "chemical_mass": 80124.0 } ] }, { "start_pos": "187", "site_seq": "N", "site_lbl": "Asn187", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IWA5-1", "start_pos": 187, "end_pos": 187, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "Choline transporter-like protein 2", "gene_name": "SLC44A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 706, "chemical_mass": 80124.0 } ] }, { "start_pos": "187", "site_seq": "", "site_lbl": "N187", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NET->SET).", "chr_id": "19", "chr_pos": "10631683", "evidence": [ { "id": "Q8IWA5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWA5" } ], "disease": [ { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "http://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q8IWA5-1", "start_pos": 187, "end_pos": 187, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "Choline transporter-like protein 2", "gene_name": "SLC44A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 706, "chemical_mass": 80124.0 } ] }, { "start_pos": "3399", "site_seq": "LDNMNVSR", "site_lbl": "Asn3399", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q7Z6Z7-1", "start_pos": 3399, "end_pos": 3399, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "E3 ubiquitin-protein ligase HUWE1", "gene_name": "HUWE1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 4374, "chemical_mass": 481891.0 } ] }, { "start_pos": "186", "site_seq": "TDNSLLDQALQNDTVFLNMR", "site_lbl": "Asn186", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O75144-1", "start_pos": 186, "end_pos": 186, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "ICOS ligand", "gene_name": "ICOSLG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 302, "chemical_mass": 33349.0 } ] }, { "start_pos": "186", "site_seq": "N", "site_lbl": "Asn186", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O75144-1", "start_pos": 186, "end_pos": 186, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "ICOS ligand", "gene_name": "ICOSLG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 302, "chemical_mass": 33349.0 } ] }, { "start_pos": "186", "site_seq": "", "site_lbl": "N186", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NDT->SDT).", "chr_id": "21", "chr_pos": "44235412", "evidence": [ { "id": "O75144", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O75144" } ], "disease": [ { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "O75144-1", "start_pos": 186, "end_pos": 186, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "ICOS ligand", "gene_name": "ICOSLG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 302, "chemical_mass": 33349.0 } ] }, { "start_pos": "103", "site_seq": "EVEAQALALATNR", "site_lbl": "Asn103", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BMC4-1", "start_pos": 103, "end_pos": 103, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "protein_name": "Nucleolar protein 9", "gene_name": "Nop9", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 636, "chemical_mass": 70046.0 } ] }, { "start_pos": "770", "site_seq": "AEAGPVTLGTTVDTTHLDNMSPR", "site_lbl": "Asn770", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q5DTU0-1", "start_pos": 770, "end_pos": 770, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "protein_name": "Actin filament-associated protein 1-like 2", "gene_name": "Afap1l2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 825, "chemical_mass": 92175.0 } ] }, { "start_pos": "152", "site_seq": "EIAEAYLGGKVQSAVITVPAYFNDSQR", "site_lbl": "Asn152", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17156-1", "start_pos": 152, "end_pos": 152, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "protein_name": "Heat shock-related 70 kDa protein 2", "gene_name": "Hspa2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 633, "chemical_mass": 69642.0 } ] }, { "start_pos": "1089", "site_seq": "VLGPGVYSNVSYFVGWIER", "site_lbl": "Asn1089", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9Z319-1", "start_pos": 1089, "end_pos": 1089, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "protein_name": "Atrial natriuretic peptide-converting enzyme", "gene_name": "Corin", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 1113, "chemical_mass": 123006.0 } ] }, { "start_pos": "1089", "site_seq": "N", "site_lbl": "Asn1089", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9Z319-1", "start_pos": 1089, "end_pos": 1089, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "protein_name": "Atrial natriuretic peptide-converting enzyme", "gene_name": "Corin", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 1113, "chemical_mass": 123006.0 } ] }, { "start_pos": "30", "site_seq": "TGIKDASDQNFDYMFKLLIIGNSSVGK", "site_lbl": "Asn30", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9CZT8-1", "start_pos": 30, "end_pos": 30, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "protein_name": "Ras-related protein Rab-3B", "gene_name": "Rab3b", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 219, "chemical_mass": 24757.0 } ] }, { "start_pos": "133", "site_seq": "FNPNISWQPIPVHTVPITEDR", "site_lbl": "Asn133", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11117-1", "start_pos": 133, "end_pos": 133, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosomal acid phosphatase", "gene_name": "ACP2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 48344.0 } ] }, { "start_pos": "133", "site_seq": "FNPnISWQPIPVHTVPITEDR", "site_lbl": "Asn133", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11117-1", "start_pos": 133, "end_pos": 133, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosomal acid phosphatase", "gene_name": "ACP2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 48344.0 } ] }, { "start_pos": "133", "site_seq": "N", "site_lbl": "Asn133", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11117-1", "start_pos": 133, "end_pos": 133, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosomal acid phosphatase", "gene_name": "ACP2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 48344.0 } ] }, { "start_pos": "133", "site_seq": "", "site_lbl": "N133", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->IIS).", "chr_id": "11", "chr_pos": "47245734", "evidence": [ { "id": "rs753770611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753770611" }, { "id": "rs753770611", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753770611" }, { "id": "rs753770611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753770611#frequency_tab" }, { "id": "rs753770611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753770611" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->SIS).", "chr_id": "11", "chr_pos": "47245734", "evidence": [ { "id": "rs753770611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753770611" }, { "id": "rs753770611", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753770611" }, { "id": "rs753770611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753770611#frequency_tab" }, { "id": "rs753770611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753770611" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P11117-1", "start_pos": 133, "end_pos": 133, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosomal acid phosphatase", "gene_name": "ACP2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 48344.0 } ] }, { "start_pos": "187", "site_seq": "N", "site_lbl": "Asn187", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02790-1", "start_pos": 187, "end_pos": 187, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Hemopexin", "gene_name": "HPX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 462, "chemical_mass": 51676.0 } ] }, { "start_pos": "187", "site_seq": "SWPAVGnCSSALR", "site_lbl": "Asn187", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02790-1", "start_pos": 187, "end_pos": 187, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Hemopexin", "gene_name": "HPX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 462, "chemical_mass": 51676.0 } ] }, { "start_pos": "187", "site_seq": "SWPAVGnCSSALRWLGR", "site_lbl": "Asn187", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02790-1", "start_pos": 187, "end_pos": 187, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Hemopexin", "gene_name": "HPX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 462, "chemical_mass": 51676.0 } ] }, { "start_pos": "187", "site_seq": "ERSWPAVGnCSSALR", "site_lbl": "Asn187", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02790-1", "start_pos": 187, "end_pos": 187, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Hemopexin", "gene_name": "HPX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 462, "chemical_mass": 51676.0 } ] }, { "start_pos": "64", "site_seq": "CSDGWSFDATTLDDnGTMLFFK", "site_lbl": "Asn64", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02790-1", "start_pos": 64, "end_pos": 64, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Hemopexin", "gene_name": "HPX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 462, "chemical_mass": 51676.0 } ] }, { "start_pos": "64", "site_seq": "N", "site_lbl": "Asn64", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02790-1", "start_pos": 64, "end_pos": 64, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Hemopexin", "gene_name": "HPX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 462, "chemical_mass": 51676.0 } ] }, { "start_pos": "187", "site_seq": "", "site_lbl": "N187", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->KCS).", "chr_id": "11", "chr_pos": "6437582", "evidence": [ { "id": "rs1590805267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1590805267" }, { "id": "rs1590805267", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1590805267" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02790-1", "start_pos": 187, "end_pos": 187, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Hemopexin", "gene_name": "HPX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 462, "chemical_mass": 51676.0 } ] }, { "start_pos": "64", "site_seq": "", "site_lbl": "N64", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "11", "chr_pos": "6440490", "evidence": [ { "id": "rs138351745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138351745" }, { "id": "rs138351745", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138351745" }, { "id": "rs138351745", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138351745#frequency_tab" }, { "id": "rs138351745", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138351745" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02790-1", "start_pos": 64, "end_pos": 64, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Hemopexin", "gene_name": "HPX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 462, "chemical_mass": 51676.0 } ] }, { "start_pos": "158", "site_seq": "LEWLGnCSGLNDETYGYK", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "N", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "LEWLGNCSGLNDETYGYK", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "193", "site_seq": "VLGFKPKPPKnESLETYPVMK", "site_lbl": "Asn193", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 193, "end_pos": 193, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "193", "site_seq": "N", "site_lbl": "Asn193", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 193, "end_pos": 193, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "193", "site_seq": "nESLETYPVMK", "site_lbl": "Asn193", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 193, "end_pos": 193, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "193", "site_seq": "PKPPKNESLETYPVMK", "site_lbl": "Asn193", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 193, "end_pos": 193, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "265", "site_seq": "YLQPLLAVQFTnLTMDTEIR", "site_lbl": "Asn265", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 265, "end_pos": 265, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "265", "site_seq": "YLQPLLAVQFTNLTMDTEIR", "site_lbl": "Asn265", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 265, "end_pos": 265, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "265", "site_seq": "N", "site_lbl": "Asn265", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 265, "end_pos": 265, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "", "site_lbl": "N158", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "1", "chr_pos": "169127314", "evidence": [ { "id": "rs139587518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139587518" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "193", "site_seq": "", "site_lbl": "N193", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->SES).", "chr_id": "1", "chr_pos": "169130020", "evidence": [ { "id": "rs771542745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771542745" }, { "id": "rs771542745", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771542745" }, { "id": "rs771542745", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771542745" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 193, "end_pos": 193, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "265", "site_seq": "", "site_lbl": "N265", "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": "1", "chr_pos": "169131437", "evidence": [ { "id": "P05026", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05026" }, { "id": "rs369488918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369488918" }, { "id": "rs369488918", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369488918" }, { "id": "rs369488918", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369488918" }, { "id": "rs369488918", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369488918#frequency_tab" }, { "id": "rs369488918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369488918" }, { "id": "rs369488918", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs369488918" } ], "disease": [ { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "http://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 265, "end_pos": 265, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "127", "site_seq": "LHINHNnLTESVGPLPK", "site_lbl": "Asn127", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 127, "end_pos": 127, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "127", "site_seq": "N", "site_lbl": "Asn127", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 127, "end_pos": 127, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "127", "site_seq": "KLHINHNnLTESVGPLPK", "site_lbl": "Asn127", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 127, "end_pos": 127, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "127", "site_seq": "LHINHNNLTESVGPLPK", "site_lbl": "Asn127", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 127, "end_pos": 127, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "160", "site_seq": "LGSFEGLVnLTFIHLQHNR", "site_lbl": "Asn160", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 160, "end_pos": 160, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "160", "site_seq": "N", "site_lbl": "Asn160", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 160, "end_pos": 160, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "160", "site_seq": "LGSFEGLVNLTFIHLQHNR", "site_lbl": "Asn160", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 160, "end_pos": 160, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "127", "site_seq": "", "site_lbl": "N127", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "12", "chr_pos": "91108600", "evidence": [ { "id": "rs757453748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757453748" }, { "id": "rs757453748", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757453748" }, { "id": "rs757453748", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757453748" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 127, "end_pos": 127, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "349", "site_seq": "N", "site_lbl": "Asn349", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P43251-1", "start_pos": 349, "end_pos": 349, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Biotinidase", "gene_name": "BTD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 543, "chemical_mass": 61133.0 } ] }, { "start_pos": "349", "site_seq": "NPVGLIGAEnATGETDPSHSK", "site_lbl": "Asn349", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P43251-1", "start_pos": 349, "end_pos": 349, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Biotinidase", "gene_name": "BTD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 543, "chemical_mass": 61133.0 } ] }, { "start_pos": "349", "site_seq": "NPVGLIGAENATGETDPSHSK", "site_lbl": "Asn349", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P43251-1", "start_pos": 349, "end_pos": 349, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Biotinidase", "gene_name": "BTD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 543, "chemical_mass": 61133.0 } ] }, { "start_pos": "101", "site_seq": "FQLLnFSSSELK", "site_lbl": "Asn101", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9BY67-1", "start_pos": 101, "end_pos": 101, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Cell adhesion molecule 1", "gene_name": "CADM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 442, "chemical_mass": 48509.0 } ] }, { "start_pos": "101", "site_seq": "N", "site_lbl": "Asn101", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9BY67-1", "start_pos": 101, "end_pos": 101, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Cell adhesion molecule 1", "gene_name": "CADM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 442, "chemical_mass": 48509.0 } ] }, { "start_pos": "101", "site_seq": "FQLLNFSSSELK", "site_lbl": "Asn101", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9BY67-1", "start_pos": 101, "end_pos": 101, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Cell adhesion molecule 1", "gene_name": "CADM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 442, "chemical_mass": 48509.0 } ] }, { "start_pos": "304", "site_seq": "VDDEMPQHAVLSGPNLFINNLnK", "site_lbl": "Asn304", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9BY67-1", "start_pos": 304, "end_pos": 304, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Cell adhesion molecule 1", "gene_name": "CADM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 442, "chemical_mass": 48509.0 } ] }, { "start_pos": "304", "site_seq": "VDDEMPQHAVLSGPNLFINNLNK", "site_lbl": "Asn304", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9BY67-1", "start_pos": 304, "end_pos": 304, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Cell adhesion molecule 1", "gene_name": "CADM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 442, "chemical_mass": 48509.0 } ] }, { "start_pos": "304", "site_seq": "N", "site_lbl": "Asn304", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9BY67-1", "start_pos": 304, "end_pos": 304, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Cell adhesion molecule 1", "gene_name": "CADM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 442, "chemical_mass": 48509.0 } ] }, { "start_pos": "101", "site_seq": "", "site_lbl": "N101", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFS->HFS).", "chr_id": "11", "chr_pos": "115238623", "evidence": [ { "id": "Q9BY67", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BY67" } ], "disease": [ { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->KFS).", "chr_id": "11", "chr_pos": "115238621", "evidence": [ { "id": "rs1942095521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1942095521" }, { "id": "rs1942095521", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1942095521" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFS->SFS).", "chr_id": "11", "chr_pos": "115238622", "evidence": [ { "id": "Q9BY67", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BY67" } ], "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" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q9BY67-1", "start_pos": 101, "end_pos": 101, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Cell adhesion molecule 1", "gene_name": "CADM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 442, "chemical_mass": 48509.0 } ] }, { "start_pos": "261", "site_seq": "QPVSPVIHPPVSYnDTAPR", "site_lbl": "Asn261", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q15904-1", "start_pos": 261, "end_pos": 261, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "V-type proton ATPase subunit S1", "gene_name": "ATP6AP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 470, "chemical_mass": 52026.0 } ] }, { "start_pos": "261", "site_seq": "QPVSPVIHPPVSYNDTAPR", "site_lbl": "Asn261", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q15904-1", "start_pos": 261, "end_pos": 261, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "V-type proton ATPase subunit S1", "gene_name": "ATP6AP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 470, "chemical_mass": 52026.0 } ] }, { "start_pos": "261", "site_seq": "N", "site_lbl": "Asn261", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q15904-1", "start_pos": 261, "end_pos": 261, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "V-type proton ATPase subunit S1", "gene_name": "ATP6AP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 470, "chemical_mass": 52026.0 } ] }, { "start_pos": "261", "site_seq": "", "site_lbl": "N261", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->DDT).", "chr_id": "X", "chr_pos": "154434304", "evidence": [ { "id": "rs928791822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs928791822" }, { "id": "rs928791822", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs928791822" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->SDT).", "chr_id": "X", "chr_pos": "154434305", "evidence": [ { "id": "rs782357366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782357366" }, { "id": "rs782357366", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782357366" }, { "id": "rs782357366", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782357366" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q15904-1", "start_pos": 261, "end_pos": 261, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "V-type proton ATPase subunit S1", "gene_name": "ATP6AP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 470, "chemical_mass": 52026.0 } ] }, { "start_pos": "96", "site_seq": "N", "site_lbl": "Asn96", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08185-1", "start_pos": 96, "end_pos": 96, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Corticosteroid-binding globulin", "gene_name": "SERPINA6", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 405, "chemical_mass": 45141.0 } ] }, { "start_pos": "96", "site_seq": "AQLLQGLGFnLTER", "site_lbl": "Asn96", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08185-1", "start_pos": 96, "end_pos": 96, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Corticosteroid-binding globulin", "gene_name": "SERPINA6", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 405, "chemical_mass": 45141.0 } ] }, { "start_pos": "249", "site_seq": "NDRnSSDETFLK", "site_lbl": "Asn249", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q14956-1", "start_pos": 249, "end_pos": 249, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Transmembrane glycoprotein NMB", "gene_name": "GPNMB", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 572, "chemical_mass": 63923.0 } ] }, { "start_pos": "249", "site_seq": "nSSDETFLK", "site_lbl": "Asn249", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q14956-1", "start_pos": 249, "end_pos": 249, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Transmembrane glycoprotein NMB", "gene_name": "GPNMB", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 572, "chemical_mass": 63923.0 } ] }, { "start_pos": "249", "site_seq": "N", "site_lbl": "Asn249", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q14956-1", "start_pos": 249, "end_pos": 249, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Transmembrane glycoprotein NMB", "gene_name": "GPNMB", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 572, "chemical_mass": 63923.0 } ] }, { "start_pos": "249", "site_seq": "NSSDETFLK", "site_lbl": "Asn249", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q14956-1", "start_pos": 249, "end_pos": 249, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Transmembrane glycoprotein NMB", "gene_name": "GPNMB", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 572, "chemical_mass": 63923.0 } ] }, { "start_pos": "275", "site_seq": "DLPIMFDVLIHDPSHFLnYSTINYK", "site_lbl": "Asn275", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q14956-1", "start_pos": 275, "end_pos": 275, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Transmembrane glycoprotein NMB", "gene_name": "GPNMB", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 572, "chemical_mass": 63923.0 } ] }, { "start_pos": "275", "site_seq": "N", "site_lbl": "Asn275", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q14956-1", "start_pos": 275, "end_pos": 275, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Transmembrane glycoprotein NMB", "gene_name": "GPNMB", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 572, "chemical_mass": 63923.0 } ] }, { "start_pos": "249", "site_seq": "", "site_lbl": "N249", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "7", "chr_pos": "23260501", "evidence": [ { "id": "rs769718537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769718537" }, { "id": "rs769718537", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769718537" }, { "id": "rs769718537", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769718537#frequency_tab" }, { "id": "rs769718537", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769718537" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q14956-1", "start_pos": 249, "end_pos": 249, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Transmembrane glycoprotein NMB", "gene_name": "GPNMB", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 572, "chemical_mass": 63923.0 } ] }, { "start_pos": "464", "site_seq": "NNVITLnITGK", "site_lbl": "Asn464", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P16278-1", "start_pos": 464, "end_pos": 464, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 677, "chemical_mass": 76075.0 } ] }, { "start_pos": "464", "site_seq": "N", "site_lbl": "Asn464", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P16278-1", "start_pos": 464, "end_pos": 464, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 677, "chemical_mass": 76075.0 } ] }, { "start_pos": "464", "site_seq": "NNVITLNITGK", "site_lbl": "Asn464", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P16278-1", "start_pos": 464, "end_pos": 464, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 677, "chemical_mass": 76075.0 } ] }, { "start_pos": "464", "site_seq": "", "site_lbl": "N464", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NIT->SIT).", "chr_id": "3", "chr_pos": "33016797", "evidence": [ { "id": "P16278", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P16278" } ], "disease": [ { "disease_id": "DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus.", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P16278-1", "start_pos": 464, "end_pos": 464, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 677, "chemical_mass": 76075.0 } ] }, { "start_pos": "265", "site_seq": "EGDnITLK", "site_lbl": "Asn265", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q13740-1", "start_pos": 265, "end_pos": 265, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "CD166 antigen", "gene_name": "ALCAM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 583, "chemical_mass": 65102.0 } ] }, { "start_pos": "265", "site_seq": "N", "site_lbl": "Asn265", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q13740-1", "start_pos": 265, "end_pos": 265, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "CD166 antigen", "gene_name": "ALCAM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 583, "chemical_mass": 65102.0 } ] }, { "start_pos": "265", "site_seq": "EGDNITLK", "site_lbl": "Asn265", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q13740-1", "start_pos": 265, "end_pos": 265, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "CD166 antigen", "gene_name": "ALCAM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 583, "chemical_mass": 65102.0 } ] }, { "start_pos": "265", "site_seq": "", "site_lbl": "N265", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->DIT).", "chr_id": "3", "chr_pos": "105540037", "evidence": [ { "id": "rs756219834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756219834" }, { "id": "rs756219834", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756219834" }, { "id": "rs756219834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756219834#frequency_tab" }, { "id": "rs756219834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756219834" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NIT->SIT).", "chr_id": "3", "chr_pos": "105540038", "evidence": [ { "id": "Q13740", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13740" }, { "id": "rs374882622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374882622" }, { "id": "rs374882622", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374882622" }, { "id": "rs374882622", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374882622#frequency_tab" }, { "id": "rs374882622", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374882622" } ], "disease": [ { "disease_id": "DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus.", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q13740-1", "start_pos": 265, "end_pos": 265, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "CD166 antigen", "gene_name": "ALCAM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 583, "chemical_mass": 65102.0 } ] }, { "start_pos": "180", "site_seq": "ETFFnLSK", "site_lbl": "Asn180", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9UK55-1", "start_pos": 180, "end_pos": 180, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Protein Z-dependent protease inhibitor", "gene_name": "SERPINA10", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 444, "chemical_mass": 50707.0 } ] }, { "start_pos": "180", "site_seq": "N", "site_lbl": "Asn180", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9UK55-1", "start_pos": 180, "end_pos": 180, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Protein Z-dependent protease inhibitor", "gene_name": "SERPINA10", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 444, "chemical_mass": 50707.0 } ] }, { "start_pos": "180", "site_seq": "", "site_lbl": "N180", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->SLS).", "chr_id": "14", "chr_pos": "94290055", "evidence": [ { "id": "rs752994713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752994713" }, { "id": "rs752994713", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752994713" }, { "id": "rs752994713", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752994713" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q9UK55-1", "start_pos": 180, "end_pos": 180, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Protein Z-dependent protease inhibitor", "gene_name": "SERPINA10", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 444, "chemical_mass": 50707.0 } ] }, { "start_pos": "432", "site_seq": "N", "site_lbl": "Asn432", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02787-1", "start_pos": 432, "end_pos": 432, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Serotransferrin", "gene_name": "TF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 698, "chemical_mass": 77064.0 } ] }, { "start_pos": "432", "site_seq": "CGLVPVLAENYnK", "site_lbl": "Asn432", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02787-1", "start_pos": 432, "end_pos": 432, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Serotransferrin", "gene_name": "TF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 698, "chemical_mass": 77064.0 } ] }, { "start_pos": "630", "site_seq": "QQQHLFGSnVTDCSGNFCLFR", "site_lbl": "Asn630", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02787-1", "start_pos": 630, "end_pos": 630, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Serotransferrin", "gene_name": "TF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 698, "chemical_mass": 77064.0 } ] }, { "start_pos": "630", "site_seq": "N", "site_lbl": "Asn630", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02787-1", "start_pos": 630, "end_pos": 630, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Serotransferrin", "gene_name": "TF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 698, "chemical_mass": 77064.0 } ] }, { "start_pos": "630", "site_seq": "QQQHLFGSnVTDCSGNFCLFRSETK", "site_lbl": "Asn630", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02787-1", "start_pos": 630, "end_pos": 630, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Serotransferrin", "gene_name": "TF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 698, "chemical_mass": 77064.0 } ] }, { "start_pos": "630", "site_seq": "", "site_lbl": "N630", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->KVT).", "chr_id": "3", "chr_pos": "133777066", "evidence": [ { "id": "rs754752269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754752269" }, { "id": "rs754752269", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754752269" }, { "id": "rs754752269", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754752269#frequency_tab" }, { "id": "rs754752269", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754752269" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02787-1", "start_pos": 630, "end_pos": 630, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Serotransferrin", "gene_name": "TF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 698, "chemical_mass": 77064.0 } ] }, { "start_pos": "128", "site_seq": "LGACnDTLQQLMEVFK", "site_lbl": "Asn128", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01008-1", "start_pos": 128, "end_pos": 128, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Antithrombin-III", "gene_name": "SERPINC1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 464, "chemical_mass": 52602.0 } ] }, { "start_pos": "128", "site_seq": "N", "site_lbl": "Asn128", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01008-1", "start_pos": 128, "end_pos": 128, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Antithrombin-III", "gene_name": "SERPINC1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 464, "chemical_mass": 52602.0 } ] }, { "start_pos": "128", "site_seq": "LGACnDTLQQLMEVFKFDTISEK", "site_lbl": "Asn128", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01008-1", "start_pos": 128, "end_pos": 128, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Antithrombin-III", "gene_name": "SERPINC1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 464, "chemical_mass": 52602.0 } ] }, { "start_pos": "128", "site_seq": "", "site_lbl": "N128", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->YDT).", "chr_id": "1", "chr_pos": "173914579", "evidence": [ { "id": "rs1657908048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1657908048" }, { "id": "rs1657908048", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1657908048" } ], "disease": [ { "disease_id": "DOID:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "http://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "613118", "database": "MIM", "url": "https://www.omim.org/entry/613118" }, { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ] }, { "disease_id": "DOID:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "http://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "613118", "database": "MIM", "url": "https://www.omim.org/entry/613118" }, { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P01008-1", "start_pos": 128, "end_pos": 128, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Antithrombin-III", "gene_name": "SERPINC1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 464, "chemical_mass": 52602.0 } ] }, { "start_pos": "381", "site_seq": "LLIAGTnSSDLQQILSLLESNK", "site_lbl": "Asn381", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08195-1", "start_pos": 381, "end_pos": 381, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 630, "chemical_mass": 67994.0 } ] }, { "start_pos": "381", "site_seq": "N", "site_lbl": "Asn381", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08195-1", "start_pos": 381, "end_pos": 381, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 630, "chemical_mass": 67994.0 } ] }, { "start_pos": "381", "site_seq": "LLIAGTNSSDLQQILSLLESNK", "site_lbl": "Asn381", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08195-1", "start_pos": 381, "end_pos": 381, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 630, "chemical_mass": 67994.0 } ] }, { "start_pos": "381", "site_seq": "", "site_lbl": "N381", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "62885196", "evidence": [ { "id": "rs751788730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751788730" }, { "id": "rs751788730", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751788730" }, { "id": "rs751788730", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751788730" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P08195-1", "start_pos": 381, "end_pos": 381, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 630, "chemical_mass": 67994.0 } ] }, { "start_pos": "381", "site_seq": "", "site_lbl": "", "residue": "", "mutagenesis": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "Q", "comment": "Impairs both the stability and the trafficking of SLC3A2 to the plasma membrane; when associated with Q-365; Q-424 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprotkb/P08195" }, { "database": "PubMed", "id": "36028562", "url": "https://glygen.org/publication/PubMed/36028562" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P08195-1", "start_pos": 381, "end_pos": 381, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 630, "chemical_mass": 67994.0 } ] }, { "start_pos": "253", "site_seq": "N", "site_lbl": "Asn253", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02749-1", "start_pos": 253, "end_pos": 253, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Beta-2-glycoprotein 1", "gene_name": "APOH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 345, "chemical_mass": 38298.0 } ] }, { "start_pos": "253", "site_seq": "LGnWSAMPSCK", "site_lbl": "Asn253", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02749-1", "start_pos": 253, "end_pos": 253, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Beta-2-glycoprotein 1", "gene_name": "APOH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 345, "chemical_mass": 38298.0 } ] }, { "start_pos": "253", "site_seq": "", "site_lbl": "N253", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWS->KWS).", "chr_id": "17", "chr_pos": "66216813", "evidence": [ { "id": "rs1307136735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307136735" }, { "id": "rs1307136735", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307136735" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02749-1", "start_pos": 253, "end_pos": 253, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Beta-2-glycoprotein 1", "gene_name": "APOH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 345, "chemical_mass": 38298.0 } ] }, { "start_pos": "129", "site_seq": "DYnSSREDSLQDAWDYVQAQVK", "site_lbl": "Asn129", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P27701-1", "start_pos": 129, "end_pos": 129, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "CD82 antigen", "gene_name": "CD82", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 267, "chemical_mass": 29626.0 } ] }, { "start_pos": "129", "site_seq": "N", "site_lbl": "Asn129", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P27701-1", "start_pos": 129, "end_pos": 129, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "CD82 antigen", "gene_name": "CD82", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 267, "chemical_mass": 29626.0 } ] }, { "start_pos": "129", "site_seq": "", "site_lbl": "N129", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->DSS).", "chr_id": "11", "chr_pos": "44615320", "evidence": [ { "id": "rs779968308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779968308" }, { "id": "rs779968308", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779968308" }, { "id": "rs779968308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779968308" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NSS->YSS).", "chr_id": "11", "chr_pos": "44615320", "evidence": [ { "id": "P27701", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P27701" } ], "disease": [ { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P27701-1", "start_pos": 129, "end_pos": 129, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "CD82 antigen", "gene_name": "CD82", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 267, "chemical_mass": 29626.0 } ] }, { "start_pos": "83", "site_seq": "RAEGLYSQLLGLTASQSnLTK", "site_lbl": "Asn83", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9BX97-1", "start_pos": 83, "end_pos": 83, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Plasmalemma vesicle-associated protein", "gene_name": "PLVAP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 442, "chemical_mass": 50594.0 } ] }, { "start_pos": "83", "site_seq": "AEGLYSQLLGLTASQSnLTK", "site_lbl": "Asn83", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9BX97-1", "start_pos": 83, "end_pos": 83, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Plasmalemma vesicle-associated protein", "gene_name": "PLVAP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 442, "chemical_mass": 50594.0 } ] }, { "start_pos": "83", "site_seq": "N", "site_lbl": "Asn83", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9BX97-1", "start_pos": 83, "end_pos": 83, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Plasmalemma vesicle-associated protein", "gene_name": "PLVAP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 442, "chemical_mass": 50594.0 } ] }, { "start_pos": "83", "site_seq": "", "site_lbl": "N83", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "19", "chr_pos": "17377041", "evidence": [ { "id": "rs1170359478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170359478" }, { "id": "rs1170359478", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1170359478#frequency_tab" }, { "id": "rs1170359478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170359478" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q9BX97-1", "start_pos": 83, "end_pos": 83, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Plasmalemma vesicle-associated protein", "gene_name": "PLVAP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 442, "chemical_mass": 50594.0 } ] }, { "start_pos": "108", "site_seq": "SQILEGLGFnLTELSESDVHR", "site_lbl": "Asn108", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P29622-1", "start_pos": 108, "end_pos": 108, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Kallistatin", "gene_name": "SERPINA4", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 427, "chemical_mass": 48542.0 } ] }, { "start_pos": "108", "site_seq": "N", "site_lbl": "Asn108", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P29622-1", "start_pos": 108, "end_pos": 108, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Kallistatin", "gene_name": "SERPINA4", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 427, "chemical_mass": 48542.0 } ] }, { "start_pos": "108", "site_seq": "", "site_lbl": "N108", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->ILT).", "chr_id": "14", "chr_pos": "94563805", "evidence": [ { "id": "rs1902111155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1902111155" }, { "id": "rs1902111155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1902111155#frequency_tab" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "14", "chr_pos": "94563806", "evidence": [ { "id": "rs768543200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768543200" }, { "id": "rs768543200", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768543200" }, { "id": "rs768543200", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768543200#frequency_tab" }, { "id": "rs768543200", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768543200" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "14", "chr_pos": "94563805", "evidence": [ { "id": "rs1902111155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1902111155" }, { "id": "rs1902111155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1902111155#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P29622-1", "start_pos": 108, "end_pos": 108, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Kallistatin", "gene_name": "SERPINA4", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 427, "chemical_mass": 48542.0 } ] }, { "start_pos": "324", "site_seq": "HTAEYAAnITK", "site_lbl": "Asn324", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q07075-1", "start_pos": 324, "end_pos": 324, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glutamyl aminopeptidase", "gene_name": "ENPEP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 957, "chemical_mass": 109244.0 } ] }, { "start_pos": "324", "site_seq": "HTAEYAANITK", "site_lbl": "Asn324", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q07075-1", "start_pos": 324, "end_pos": 324, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glutamyl aminopeptidase", "gene_name": "ENPEP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 957, "chemical_mass": 109244.0 } ] }, { "start_pos": "324", "site_seq": "N", "site_lbl": "Asn324", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q07075-1", "start_pos": 324, "end_pos": 324, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glutamyl aminopeptidase", "gene_name": "ENPEP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 957, "chemical_mass": 109244.0 } ] }, { "start_pos": "678", "site_seq": "VALnLTK", "site_lbl": "Asn678", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q07075-1", "start_pos": 678, "end_pos": 678, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glutamyl aminopeptidase", "gene_name": "ENPEP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 957, "chemical_mass": 109244.0 } ] }, { "start_pos": "678", "site_seq": "VALNLTK", "site_lbl": "Asn678", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q07075-1", "start_pos": 678, "end_pos": 678, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glutamyl aminopeptidase", "gene_name": "ENPEP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 957, "chemical_mass": 109244.0 } ] }, { "start_pos": "678", "site_seq": "N", "site_lbl": "Asn678", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q07075-1", "start_pos": 678, "end_pos": 678, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glutamyl aminopeptidase", "gene_name": "ENPEP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 957, "chemical_mass": 109244.0 } ] }, { "start_pos": "324", "site_seq": "", "site_lbl": "N324", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->DIT).", "chr_id": "4", "chr_pos": "110506688", "evidence": [ { "id": "rs1357172069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1357172069" }, { "id": "rs1357172069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1357172069" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->IIT).", "chr_id": "4", "chr_pos": "110506689", "evidence": [ { "id": "rs897327471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs897327471" }, { "id": "rs897327471", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs897327471" }, { "id": "rs897327471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs897327471" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->TIT).", "chr_id": "4", "chr_pos": "110506689", "evidence": [ { "id": "rs897327471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs897327471" }, { "id": "rs897327471", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs897327471" }, { "id": "rs897327471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs897327471" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q07075-1", "start_pos": 324, "end_pos": 324, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glutamyl aminopeptidase", "gene_name": "ENPEP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 957, "chemical_mass": 109244.0 } ] }, { "start_pos": "678", "site_seq": "", "site_lbl": "N678", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->HLT).", "chr_id": "4", "chr_pos": "110548207", "evidence": [ { "id": "rs1727151705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1727151705" }, { "id": "rs1727151705", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1727151705" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q07075-1", "start_pos": 678, "end_pos": 678, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glutamyl aminopeptidase", "gene_name": "ENPEP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 957, "chemical_mass": 109244.0 } ] }, { "start_pos": "398", "site_seq": "N", "site_lbl": "Asn398", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 398, "end_pos": 398, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "398", "site_seq": "GLnLTEDTYKPR", "site_lbl": "Asn398", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 398, "end_pos": 398, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "551", "site_seq": "AAIPSALDTnSSK", "site_lbl": "Asn551", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 551, "end_pos": 551, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "551", "site_seq": "N", "site_lbl": "Asn551", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 551, "end_pos": 551, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "551", "site_seq": "AAIPSALDTNSSK", "site_lbl": "Asn551", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 551, "end_pos": 551, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "69", "site_seq": "ALGFEnATQALGR", "site_lbl": "Asn69", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 69, "end_pos": 69, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "69", "site_seq": "N", "site_lbl": "Asn69", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 69, "end_pos": 69, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "398", "site_seq": "", "site_lbl": "N398", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "17", "chr_pos": "78972140", "evidence": [ { "id": "rs923974095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs923974095" }, { "id": "rs923974095", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs923974095#frequency_tab" }, { "id": "rs923974095", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs923974095" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 398, "end_pos": 398, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "551", "site_seq": "", "site_lbl": "N551", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "17", "chr_pos": "78971682", "evidence": [ { "id": "rs773114062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773114062" }, { "id": "rs773114062", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773114062" }, { "id": "rs773114062", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773114062" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 551, "end_pos": 551, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "69", "site_seq": "", "site_lbl": "N69", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->IAT).", "chr_id": "17", "chr_pos": "78976003", "evidence": [ { "id": "rs968684090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs968684090" }, { "id": "rs968684090", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs968684090#frequency_tab" }, { "id": "rs968684090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs968684090" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->KAT).", "chr_id": "17", "chr_pos": "78976002", "evidence": [ { "id": "rs770079138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770079138" }, { "id": "rs770079138", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770079138" }, { "id": "rs770079138", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770079138#frequency_tab" }, { "id": "rs770079138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770079138" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "17", "chr_pos": "78976003", "evidence": [ { "id": "rs968684090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs968684090" }, { "id": "rs968684090", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs968684090#frequency_tab" }, { "id": "rs968684090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs968684090" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 69, "end_pos": 69, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "65", "site_seq": "CIQAnYSLMENGK", "site_lbl": "Asn65", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05090-1", "start_pos": 65, "end_pos": 65, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Apolipoprotein D", "gene_name": "APOD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 189, "chemical_mass": 21276.0 } ] }, { "start_pos": "65", "site_seq": "N", "site_lbl": "Asn65", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05090-1", "start_pos": 65, "end_pos": 65, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Apolipoprotein D", "gene_name": "APOD", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 189, "chemical_mass": 21276.0 } ] }, { "start_pos": "322", "site_seq": "QDFnITDISLLEHR", "site_lbl": "Asn322", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P07911-1", "start_pos": 322, "end_pos": 322, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "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": "322", "site_seq": "N", "site_lbl": "Asn322", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P07911-1", "start_pos": 322, "end_pos": 322, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "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": "322", "site_seq": "", "site_lbl": "N322", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->KIT).", "chr_id": "16", "chr_pos": "20348230", "evidence": [ { "id": "rs759032284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759032284" }, { "id": "rs759032284", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759032284" }, { "id": "rs759032284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759032284" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT).", "chr_id": "16", "chr_pos": "20348231", "evidence": [ { "id": "rs765984547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765984547" }, { "id": "rs765984547", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765984547" }, { "id": "rs765984547", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765984547" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P07911-1", "start_pos": 322, "end_pos": 322, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "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": "73", "site_seq": "QVHFFVnASDVDNVK", "site_lbl": "Asn73", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q96IY4-1", "start_pos": 73, "end_pos": 73, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Carboxypeptidase B2", "gene_name": "CPB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 48424.0 } ] }, { "start_pos": "73", "site_seq": "N", "site_lbl": "Asn73", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q96IY4-1", "start_pos": 73, "end_pos": 73, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Carboxypeptidase B2", "gene_name": "CPB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 423, "chemical_mass": 48424.0 } ] }, { "start_pos": "311", "site_seq": "LLQVVYLHSNnITK", "site_lbl": "Asn311", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P21810-1", "start_pos": 311, "end_pos": 311, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Biglycan", "gene_name": "BGN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 368, "chemical_mass": 41654.0 } ] }, { "start_pos": "311", "site_seq": "N", "site_lbl": "Asn311", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P21810-1", "start_pos": 311, "end_pos": 311, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Biglycan", "gene_name": "BGN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 368, "chemical_mass": 41654.0 } ] }, { "start_pos": "311", "site_seq": "", "site_lbl": "N311", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->DIT).", "chr_id": "X", "chr_pos": "153508269", "evidence": [ { "id": "rs2521228130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2521228130" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->nullIT).", "chr_id": "X", "chr_pos": "153508267ACA", "evidence": [ { "id": "rs2124243120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2124243120" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P21810-1", "start_pos": 311, "end_pos": 311, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Biglycan", "gene_name": "BGN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 368, "chemical_mass": 41654.0 } ] }, { "start_pos": "285", "site_seq": "EIAnATAKPEDRNDPMLLYNK", "site_lbl": "Asn285", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08473-1", "start_pos": 285, "end_pos": 285, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Neprilysin", "gene_name": "MME", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 750, "chemical_mass": 85514.0 } ] }, { "start_pos": "285", "site_seq": "EIAnATAKPEDR", "site_lbl": "Asn285", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08473-1", "start_pos": 285, "end_pos": 285, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Neprilysin", "gene_name": "MME", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 750, "chemical_mass": 85514.0 } ] }, { "start_pos": "285", "site_seq": "EIANATAKPEDR", "site_lbl": "Asn285", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08473-1", "start_pos": 285, "end_pos": 285, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Neprilysin", "gene_name": "MME", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 750, "chemical_mass": 85514.0 } ] }, { "start_pos": "285", "site_seq": "N", "site_lbl": "Asn285", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08473-1", "start_pos": 285, "end_pos": 285, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Neprilysin", "gene_name": "MME", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 750, "chemical_mass": 85514.0 } ] }, { "start_pos": "285", "site_seq": "", "site_lbl": "N285", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT).", "chr_id": "3", "chr_pos": "155138234", "evidence": [ { "id": "rs1339178202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339178202" }, { "id": "rs1339178202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339178202" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->IAT).", "chr_id": "3", "chr_pos": "155138235", "evidence": [ { "id": "rs200961860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860" }, { "id": "rs200961860", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200961860" }, { "id": "rs200961860", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860" }, { "id": "rs200961860", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200961860#frequency_tab" }, { "id": "rs200961860", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200961860" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAT->KAT).", "chr_id": "3", "chr_pos": "155138236", "evidence": [ { "id": "P08473", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P08473" }, { "id": "rs1434664230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434664230" }, { "id": "rs1434664230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434664230" }, { "id": "rs1434664230", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1434664230" } ], "disease": [ { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "3", "chr_pos": "155138235", "evidence": [ { "id": "rs200961860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860" }, { "id": "rs200961860", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200961860" }, { "id": "rs200961860", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860" }, { "id": "rs200961860", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200961860#frequency_tab" }, { "id": "rs200961860", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200961860" } ], "disease": [ { "disease_id": "DOID:0110160", "name": "Charcot-Marie-Tooth disease axonal type 2T", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.", "url": "http://disease-ontology.org/term/DOID:0110160", "evidence": [ { "id": "0110160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110160" }, { "id": "0110160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110160" } ] }, { "disease_id": "DOID:0110160", "name": "Charcot-Marie-Tooth disease axonal type 2T", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.", "url": "http://disease-ontology.org/term/DOID:0110160", "evidence": [ { "id": "0110160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110160" }, { "id": "0110160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110160" } ] }, { "disease_id": "DOID:0110160", "name": "Charcot-Marie-Tooth disease axonal type 2T", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.", "url": "http://disease-ontology.org/term/DOID:0110160", "evidence": [ { "id": "0110160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110160" }, { "id": "0110160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110160" } ] }, { "disease_id": "DOID:0110160", "name": "Charcot-Marie-Tooth disease axonal type 2T", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.", "url": "http://disease-ontology.org/term/DOID:0110160", "evidence": [ { "id": "0110160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110160" }, { "id": "0110160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110160" } ] }, { "disease_id": "DOID:0110160", "name": "Charcot-Marie-Tooth disease axonal type 2T", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.", "url": "http://disease-ontology.org/term/DOID:0110160", "evidence": [ { "id": "0110160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110160" }, { "id": "0110160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110160" } ] }, { "disease_id": "DOID:0111745", "name": "cerebellar ataxia type 43", "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.", "url": "http://disease-ontology.org/term/DOID:0111745", "evidence": [ { "id": "0111745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111745" }, { "id": "0111745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111745" } ] }, { "disease_id": "DOID:0111745", "name": "cerebellar ataxia type 43", "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.", "url": "http://disease-ontology.org/term/DOID:0111745", "evidence": [ { "id": "0111745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111745" }, { "id": "0111745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111745" } ] }, { "disease_id": "DOID:0111745", "name": "cerebellar ataxia type 43", "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.", "url": "http://disease-ontology.org/term/DOID:0111745", "evidence": [ { "id": "0111745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111745" }, { "id": "0111745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111745" } ] }, { "disease_id": "DOID:0111745", "name": "cerebellar ataxia type 43", "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.", "url": "http://disease-ontology.org/term/DOID:0111745", "evidence": [ { "id": "0111745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111745" }, { "id": "0111745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111745" } ] }, { "disease_id": "DOID:0111745", "name": "cerebellar ataxia type 43", "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.", "url": "http://disease-ontology.org/term/DOID:0111745", "evidence": [ { "id": "0111745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111745" }, { "id": "0111745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111745" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P08473-1", "start_pos": 285, "end_pos": 285, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Neprilysin", "gene_name": "MME", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 750, "chemical_mass": 85514.0 } ] }, { "start_pos": "138", "site_seq": "N", "site_lbl": "Asn138", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00450-1", "start_pos": 138, "end_pos": 138, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ceruloplasmin", "gene_name": "CP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1065, "chemical_mass": 122219.0 } ] }, { "start_pos": "138", "site_seq": "EHEGAIYPDnTTDFQR", "site_lbl": "Asn138", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00450-1", "start_pos": 138, "end_pos": 138, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ceruloplasmin", "gene_name": "CP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1065, "chemical_mass": 122219.0 } ] }, { "start_pos": "138", "site_seq": "EHEGAIYPDnTTDFQRADDK", "site_lbl": "Asn138", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00450-1", "start_pos": 138, "end_pos": 138, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ceruloplasmin", "gene_name": "CP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1065, "chemical_mass": 122219.0 } ] }, { "start_pos": "138", "site_seq": "EHEGAIYPDNTTDFQR", "site_lbl": "Asn138", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00450-1", "start_pos": 138, "end_pos": 138, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ceruloplasmin", "gene_name": "CP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1065, "chemical_mass": 122219.0 } ] }, { "start_pos": "762", "site_seq": "N", "site_lbl": "Asn762", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00450-1", "start_pos": 762, "end_pos": 762, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ceruloplasmin", "gene_name": "CP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1065, "chemical_mass": 122219.0 } ] }, { "start_pos": "762", "site_seq": "ELHHLQEQnVSNAFLDK", "site_lbl": "Asn762", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00450-1", "start_pos": 762, "end_pos": 762, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ceruloplasmin", "gene_name": "CP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1065, "chemical_mass": 122219.0 } ] }, { "start_pos": "762", "site_seq": "ELHHLQEQNVSNAFLDK", "site_lbl": "Asn762", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00450-1", "start_pos": 762, "end_pos": 762, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ceruloplasmin", "gene_name": "CP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1065, "chemical_mass": 122219.0 } ] }, { "start_pos": "138", "site_seq": "", "site_lbl": "N138", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->KTT).", "chr_id": "3", "chr_pos": "149210360", "evidence": [ { "id": "rs757785679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757785679" }, { "id": "rs757785679", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757785679" }, { "id": "rs757785679", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757785679#frequency_tab" }, { "id": "rs757785679", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757785679" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P00450-1", "start_pos": 138, "end_pos": 138, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ceruloplasmin", "gene_name": "CP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1065, "chemical_mass": 122219.0 } ] }, { "start_pos": "762", "site_seq": "", "site_lbl": "N762", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NVS->KVS).", "chr_id": "3", "chr_pos": "149183605", "evidence": [ { "id": "P00450", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P00450" }, { "id": "rs1576737229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576737229" }, { "id": "rs1576737229", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1576737229" } ], "disease": [ { "disease_id": "DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage.", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NVS->TVS).", "chr_id": "3", "chr_pos": "149185239", "evidence": [ { "id": "P00450", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P00450" } ], "disease": [ { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P00450-1", "start_pos": 762, "end_pos": 762, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ceruloplasmin", "gene_name": "CP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1065, "chemical_mass": 122219.0 } ] }, { "start_pos": "89", "site_seq": "GSnYTSK", "site_lbl": "Asn89", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P20701-1", "start_pos": 89, "end_pos": 89, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Integrin alpha-L", "gene_name": "ITGAL", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1170, "chemical_mass": 128770.0 } ] }, { "start_pos": "89", "site_seq": "N", "site_lbl": "Asn89", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P20701-1", "start_pos": 89, "end_pos": 89, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Integrin alpha-L", "gene_name": "ITGAL", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1170, "chemical_mass": 128770.0 } ] }, { "start_pos": "89", "site_seq": "", "site_lbl": "N89", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->IYT).", "chr_id": "16", "chr_pos": "30475519", "evidence": [ { "id": "rs2151141095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2151141095" }, { "id": "rs2151141095", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2151141095" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->KYT).", "chr_id": "16", "chr_pos": "30475520", "evidence": [ { "id": "rs2050457701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2050457701" }, { "id": "rs2050457701", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2050457701#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P20701-1", "start_pos": 89, "end_pos": 89, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Integrin alpha-L", "gene_name": "ITGAL", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1170, "chemical_mass": 128770.0 } ] }, { "start_pos": "530", "site_seq": "DPAGWLNINPInGTVDTTAVLDR", "site_lbl": "Asn530", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P55290-1", "start_pos": 530, "end_pos": 530, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Cadherin-13", "gene_name": "CDH13", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 713, "chemical_mass": 78287.0 } ] }, { "start_pos": "530", "site_seq": "N", "site_lbl": "Asn530", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P55290-1", "start_pos": 530, "end_pos": 530, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Cadherin-13", "gene_name": "CDH13", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 713, "chemical_mass": 78287.0 } ] }, { "start_pos": "530", "site_seq": "", "site_lbl": "N530", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->IGT).", "chr_id": "16", "chr_pos": "83748158", "evidence": [ { "id": "rs949898354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs949898354" }, { "id": "rs949898354", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs949898354#frequency_tab" }, { "id": "rs949898354", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs949898354" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "16", "chr_pos": "83748158", "evidence": [ { "id": "rs949898354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs949898354" }, { "id": "rs949898354", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs949898354#frequency_tab" }, { "id": "rs949898354", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs949898354" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P55290-1", "start_pos": 530, "end_pos": 530, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Cadherin-13", "gene_name": "CDH13", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 713, "chemical_mass": 78287.0 } ] }, { "start_pos": "329", "site_seq": "IQPIIAVADEGWHILQnK", "site_lbl": "Asn329", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9UJA9-1", "start_pos": 329, "end_pos": 329, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 5", "gene_name": "ENPP5", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 477, "chemical_mass": 54666.0 } ] }, { "start_pos": "329", "site_seq": "N", "site_lbl": "Asn329", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9UJA9-1", "start_pos": 329, "end_pos": 329, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 5", "gene_name": "ENPP5", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 477, "chemical_mass": 54666.0 } ] }, { "start_pos": "329", "site_seq": "", "site_lbl": "N329", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->DKS).", "chr_id": "6", "chr_pos": "46165408", "evidence": [ { "id": "rs778857831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778857831" }, { "id": "rs778857831", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778857831" }, { "id": "rs778857831", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778857831" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->KKS).", "chr_id": "6", "chr_pos": "46165406", "evidence": [ { "id": "rs1764512386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1764512386" }, { "id": "rs1764512386", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1764512386" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->TKS).", "chr_id": "6", "chr_pos": "46165407", "evidence": [ { "id": "rs1373410547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373410547" }, { "id": "rs1373410547", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1373410547#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q9UJA9-1", "start_pos": 329, "end_pos": 329, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 5", "gene_name": "ENPP5", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 477, "chemical_mass": 54666.0 } ] }, { "start_pos": "45", "site_seq": "VIEEFYnQTWVHR", "site_lbl": "Asn45", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11166-1", "start_pos": 45, "end_pos": 45, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Solute carrier family 2, facilitated glucose transporter member 1", "gene_name": "SLC2A1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 492, "chemical_mass": 54084.0 } ] }, { "start_pos": "45", "site_seq": "VIEEFYNQTWVHR", "site_lbl": "Asn45", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11166-1", "start_pos": 45, "end_pos": 45, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Solute carrier family 2, facilitated glucose transporter member 1", "gene_name": "SLC2A1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 492, "chemical_mass": 54084.0 } ] }, { "start_pos": "45", "site_seq": "N", "site_lbl": "Asn45", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11166-1", "start_pos": 45, "end_pos": 45, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Solute carrier family 2, facilitated glucose transporter member 1", "gene_name": "SLC2A1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 492, "chemical_mass": 54084.0 } ] }, { "start_pos": "45", "site_seq": "", "site_lbl": "N45", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->DQT).", "chr_id": "1", "chr_pos": "42931188", "evidence": [ { "id": "rs1249135503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249135503" }, { "id": "rs1249135503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249135503" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NQT->SQT).", "chr_id": "1", "chr_pos": "42931187", "evidence": [ { "id": "P11166", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11166" } ], "disease": [ { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P11166-1", "start_pos": 45, "end_pos": 45, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Solute carrier family 2, facilitated glucose transporter member 1", "gene_name": "SLC2A1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 492, "chemical_mass": 54084.0 } ] }, { "start_pos": "45", "site_seq": "", "site_lbl": "", "residue": "", "mutagenesis": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Loss of glycosylation site.", "evidence": [ { "database": "UniProtKB", "id": "P11166", "url": "https://www.uniprot.org/uniprotkb/P11166" }, { "database": "PubMed", "id": "24847886", "url": "https://glygen.org/publication/PubMed/24847886" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P11166-1", "start_pos": 45, "end_pos": 45, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Solute carrier family 2, facilitated glucose transporter member 1", "gene_name": "SLC2A1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 492, "chemical_mass": 54084.0 } ] }, { "start_pos": "210", "site_seq": "LGGWnITGPWAK", "site_lbl": "Asn210", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P42892-1", "start_pos": 210, "end_pos": 210, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Endothelin-converting enzyme 1", "gene_name": "ECE1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 770, "chemical_mass": 87164.0 } ] }, { "start_pos": "210", "site_seq": "N", "site_lbl": "Asn210", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P42892-1", "start_pos": 210, "end_pos": 210, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Endothelin-converting enzyme 1", "gene_name": "ECE1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 770, "chemical_mass": 87164.0 } ] }, { "start_pos": "210", "site_seq": "LGGWNITGPWAK", "site_lbl": "Asn210", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P42892-1", "start_pos": 210, "end_pos": 210, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Endothelin-converting enzyme 1", "gene_name": "ECE1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 770, "chemical_mass": 87164.0 } ] } ], "record_id": "G11115RO" }