{ "glytoucan_ac": "G00273SJ", "species": [ { "taxid": 9606, "name": "Homo sapiens", "annotation_category": "direct", "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_000888", "url": "https://data.glygen.org/GLY_000888" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" }, { "taxid": 10090, "name": "Mus musculus", "annotation_category": "direct", "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" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "mass": 2224.82, "classification": [ { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Arm-fucosylated" } }, { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Biantennary" } }, { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Bisected" } }, { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Complex", "url": "" } }, { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Core-fucosylated" } } ], "composition": [ { "name": "6-Deoxy-Hexose", "residue": "dhex", "count": 4, "cid": "840", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/840" }, { "name": "Hexose", "residue": "hex", "count": 5, "cid": "206", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/206" }, { "name": "N-Acetylhexosamine", "residue": "hexnac", "count": 4, "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": 0, "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": "1368", "end_pos": "826", "site_lbl": "Asn1368", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->KST).", "chr_id": "2", "chr_pos": "1638948", "evidence": [ { "id": "rs1447444077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447444077" } ] } ], "uniprot_canonical_ac": "Q92626-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q92626-1", "start_pos": 1368, "end_pos": 1368, "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": "Peroxidasin homolog", "gene_name": "PXDN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 23.6, "length": 1479, "chemical_mass": 165275.0 } ] }, { "start_pos": "907", "end_pos": "987", "site_lbl": "Asn907", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->YGS).", "chr_id": "3", "chr_pos": "77595177", "evidence": [ { "id": "rs1473511144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473511144" }, { "id": "rs1473511144", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1473511144#frequency_tab" } ] } ], "uniprot_canonical_ac": "Q9HCK4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9HCK4-1", "start_pos": 907, "end_pos": 907, "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": "Roundabout homolog 2", "gene_name": "ROBO2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 4.4, "length": 1378, "chemical_mass": 151200.0 } ] }, { "start_pos": "786", "end_pos": "61", "site_lbl": "Asn786", "weight": 0.0, "uniprot_canonical_ac": "Q91ZU9-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91ZU9-1", "start_pos": 786, "end_pos": 786, "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": "Glutamate receptor ionotropic, NMDA 3B", "gene_name": "Grin3b", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.1, "length": 1003, "chemical_mass": 109158.0 } ] }, { "start_pos": "105", "end_pos": "993", "site_lbl": "Asn105", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->DIS).", "chr_id": "10", "chr_pos": "17127864", "evidence": [ { "id": "rs2492161163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2492161163" } ] } ], "uniprot_canonical_ac": "O60494-1", "glycoprotein": [ { "uniprot_canonical_ac": "O60494-1", "start_pos": 105, "end_pos": 105, "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": "Cubilin", "gene_name": "CUBN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 108.4, "length": 3623, "chemical_mass": 398736.0 } ] }, { "start_pos": "2531", "end_pos": "993", "site_lbl": "Asn2531", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->KVS).", "chr_id": "10", "chr_pos": "16907620", "evidence": [ { "id": "rs555761842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555761842" }, { "id": "rs555761842", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555761842" }, { "id": "rs555761842", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555761842" }, { "id": "rs555761842", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs555761842" } ] } ], "uniprot_canonical_ac": "O60494-1", "glycoprotein": [ { "uniprot_canonical_ac": "O60494-1", "start_pos": 2531, "end_pos": 2531, "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": "Cubilin", "gene_name": "CUBN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 108.4, "length": 3623, "chemical_mass": 398736.0 } ] }, { "start_pos": "781", "end_pos": "993", "site_lbl": "Asn781", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->KGT).", "chr_id": "10", "chr_pos": "17071930", "evidence": [ { "id": "rs149758972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149758972" }, { "id": "rs149758972", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149758972" }, { "id": "rs149758972", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149758972#frequency_tab" }, { "id": "rs149758972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149758972" } ] } ], "uniprot_canonical_ac": "O60494-1", "glycoprotein": [ { "uniprot_canonical_ac": "O60494-1", "start_pos": 781, "end_pos": 781, "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": "Cubilin", "gene_name": "CUBN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 108.4, "length": 3623, "chemical_mass": 398736.0 } ] }, { "start_pos": "250", "end_pos": "987", "site_lbl": "Asn250", "weight": 0.0, "uniprot_canonical_ac": "O00468-1", "glycoprotein": [ { "uniprot_canonical_ac": "O00468-1", "start_pos": 250, "end_pos": 250, "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": "Agrin", "gene_name": "AGRN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 79.9, "length": 2068, "chemical_mass": 217320.0 } ] }, { "start_pos": "78", "end_pos": "80", "site_lbl": "Asn78", "weight": 0.0, "uniprot_canonical_ac": "Q9GZM7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM7-1", "start_pos": 78, "end_pos": 78, "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": "Tubulointerstitial nephritis antigen-like", "gene_name": "TINAGL1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 25.2, "length": 467, "chemical_mass": 52387.0 } ] }, { "start_pos": "666", "end_pos": "996", "site_lbl": "Asn666", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->TIT).", "chr_id": "6", "chr_pos": "46863090", "evidence": [ { "id": "rs751766229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751766229" }, { "id": "rs751766229", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751766229" }, { "id": "rs751766229", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751766229" } ] } ], "uniprot_canonical_ac": "Q8IZF2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IZF2-1", "start_pos": 666, "end_pos": 666, "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": "Adhesion G protein-coupled receptor F5", "gene_name": "ADGRF5", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 30.3, "length": 1346, "chemical_mass": 149457.0 } ] }, { "start_pos": "189", "end_pos": "481", "site_lbl": "Asn189", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->DLS).", "chr_id": "14", "chr_pos": "38255458", "evidence": [ { "id": "rs1348541551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1348541551" }, { "id": "rs1348541551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1348541551" } ] }, { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->HLS).", "chr_id": "14", "chr_pos": "38255458", "evidence": [ { "id": "rs1348541551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1348541551" }, { "id": "rs1348541551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1348541551" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "14", "chr_pos": "38255456", "evidence": [ { "id": "rs751425995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751425995" }, { "id": "rs751425995", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751425995" }, { "id": "rs751425995", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751425995" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLS->SLS).", "chr_id": "14", "chr_pos": "38255457", "evidence": [ { "id": "Q86T13", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86T13" } ], "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" } ] } ] } ], "uniprot_canonical_ac": "Q86T13-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q86T13-1", "start_pos": 189, "end_pos": 189, "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": "C-type lectin domain family 14 member A", "gene_name": "CLEC14A", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 3.4, "length": 490, "chemical_mass": 51636.0 } ] }, { "start_pos": "227", "end_pos": "95", "site_lbl": "Asn227", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->TQT).", "chr_id": "8", "chr_pos": "73067456", "evidence": [ { "id": "rs773889462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773889462" }, { "id": "rs773889462", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773889462" }, { "id": "rs773889462", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773889462#frequency_tab" }, { "id": "rs773889462", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773889462" } ] } ], "uniprot_canonical_ac": "Q8IVN8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IVN8-1", "start_pos": 227, "end_pos": 227, "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": "Somatomedin-B and thrombospondin type-1 domain-containing protein", "gene_name": "SBSPON", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 10.7, "length": 264, "chemical_mass": 29610.0 } ] }, { "start_pos": "174", "end_pos": "421", "site_lbl": "Asn174", "weight": 0.0, "uniprot_canonical_ac": "Q9HD45-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9HD45-1", "start_pos": 174, "end_pos": 174, "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 9 superfamily member 3", "gene_name": "TM9SF3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 22.1, "length": 589, "chemical_mass": 67888.0 } ] }, { "start_pos": "1323", "end_pos": "529", "site_lbl": "Asn1323", "weight": 0.0, "uniprot_canonical_ac": "O43451-2", "glycoprotein": [ { "uniprot_canonical_ac": "O43451-2", "start_pos": 1323, "end_pos": 1323, "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": "Maltase-glucoamylase", "gene_name": "MGAM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 35.7, "length": 2753, "chemical_mass": 312022.0 } ] }, { "start_pos": "350", "end_pos": "904", "site_lbl": "Asn350", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->HGS).", "chr_id": "10", "chr_pos": "86943736", "evidence": [ { "id": "rs1844020028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1844020028" }, { "id": "rs1844020028", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1844020028" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "10", "chr_pos": "86943735", "evidence": [ { "id": "rs768730692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768730692" }, { "id": "rs768730692", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768730692" }, { "id": "rs768730692", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768730692" } ] } ], "uniprot_canonical_ac": "Q9H8L6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9H8L6-1", "start_pos": 350, "end_pos": 350, "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": "Multimerin-2", "gene_name": "MMRN2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 30.6, "length": 949, "chemical_mass": 104409.0 } ] }, { "start_pos": "1986", "end_pos": "81", "site_lbl": "Asn1986", "weight": 0.0, "snv": [ { "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": "121621130", "evidence": [ { "id": "rs1863717703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1863717703" }, { "id": "rs1863717703", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1863717703" } ] } ], "uniprot_canonical_ac": "Q92673-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q92673-1", "start_pos": 1986, "end_pos": 1986, "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": "Sortilin-related receptor", "gene_name": "SORL1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 62.5, "length": 2214, "chemical_mass": 248426.0 } ] }, { "start_pos": "551", "end_pos": "656", "site_lbl": "Asn551", "weight": 0.0, "uniprot_canonical_ac": "O14672-1", "glycoprotein": [ { "uniprot_canonical_ac": "O14672-1", "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": "Disintegrin and metalloproteinase domain-containing protein 10", "gene_name": "ADAM10", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 60.9, "length": 748, "chemical_mass": 84142.0 } ] }, { "start_pos": "1068", "end_pos": "1164", "site_lbl": "Asn1068", "weight": 0.0, "uniprot_canonical_ac": "O15031-1", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 1068, "end_pos": 1068, "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": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 67.1, "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "1099", "end_pos": "1164", "site_lbl": "Asn1099", "weight": 0.0, "uniprot_canonical_ac": "O15031-1", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 1099, "end_pos": 1099, "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": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 67.1, "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "227", "end_pos": "236", "site_lbl": "Asn227", "weight": 0.0, "uniprot_canonical_ac": "P62258-1", "glycoprotein": [ { "uniprot_canonical_ac": "P62258-1", "start_pos": 227, "end_pos": 227, "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": "14-3-3 protein epsilon", "gene_name": "YWHAE", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 62.2, "length": 255, "chemical_mass": 29174.0 } ] }, { "start_pos": "2019", "end_pos": "961", "site_lbl": "Asn2019", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->DCT).", "chr_id": "20", "chr_pos": "62323465", "evidence": [ { "id": "rs778307053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778307053" }, { "id": "rs778307053", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778307053" }, { "id": "rs778307053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778307053#frequency_tab" }, { "id": "rs778307053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778307053" } ] }, { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->HCT).", "chr_id": "20", "chr_pos": "62323465", "evidence": [ { "id": "rs778307053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778307053" }, { "id": "rs778307053", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778307053" }, { "id": "rs778307053", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778307053#frequency_tab" }, { "id": "rs778307053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778307053" } ] } ], "uniprot_canonical_ac": "O15230-1", "glycoprotein": [ { "uniprot_canonical_ac": "O15230-1", "start_pos": 2019, "end_pos": 2019, "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": "Laminin subunit alpha-5", "gene_name": "LAMA5", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 100.3, "length": 3695, "chemical_mass": 399737.0 } ] }, { "start_pos": "2501", "end_pos": "961", "site_lbl": "Asn2501", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLS->SLS).", "chr_id": "20", "chr_pos": "62317354", "evidence": [ { "id": "O15230", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O15230" }, { "id": "rs766523334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766523334" }, { "id": "rs766523334", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766523334" }, { "id": "rs766523334", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766523334#frequency_tab" }, { "id": "rs766523334", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766523334" } ], "disease": [ { "disease_id": "DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "url": "http://disease-ontology.org/term/DOID:2531", "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ] } ], "uniprot_canonical_ac": "O15230-1", "glycoprotein": [ { "uniprot_canonical_ac": "O15230-1", "start_pos": 2501, "end_pos": 2501, "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": "Laminin subunit alpha-5", "gene_name": "LAMA5", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 100.3, "length": 3695, "chemical_mass": 399737.0 } ] }, { "start_pos": "2568", "end_pos": "961", "site_lbl": "Asn2568", "weight": 0.0, "uniprot_canonical_ac": "O15230-1", "glycoprotein": [ { "uniprot_canonical_ac": "O15230-1", "start_pos": 2568, "end_pos": 2568, "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": "Laminin subunit alpha-5", "gene_name": "LAMA5", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 100.3, "length": 3695, "chemical_mass": 399737.0 } ] }, { "start_pos": "360", "end_pos": "87", "site_lbl": "Asn360", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->ILT).", "chr_id": "7", "chr_pos": "131508973", "evidence": [ { "id": "rs960596154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs960596154" }, { "id": "rs960596154", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs960596154" } ] } ], "uniprot_canonical_ac": "O00592-1", "glycoprotein": [ { "uniprot_canonical_ac": "O00592-1", "start_pos": 360, "end_pos": 360, "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": "Podocalyxin", "gene_name": "PODXL", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 26.1, "length": 558, "chemical_mass": 58635.0 } ] }, { "start_pos": "395", "end_pos": "899", "site_lbl": "Asn395", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NVT->HVT).", "chr_id": "1", "chr_pos": "35466626", "evidence": [ { "id": "Q8IZA0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZA0" } ], "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" } ] } ] } ], "uniprot_canonical_ac": "Q8IZA0-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IZA0-1", "start_pos": 395, "end_pos": 395, "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": "Dyslexia-associated protein KIAA0319-like protein", "gene_name": "KIAA0319L", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 15.4, "length": 1049, "chemical_mass": 115658.0 } ] }, { "start_pos": "1355", "end_pos": "98", "site_lbl": "Asn1355", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->IET).", "chr_id": "6", "chr_pos": "73820465", "evidence": [ { "id": "rs748658555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748658555" }, { "id": "rs748658555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748658555" }, { "id": "rs748658555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748658555#frequency_tab" }, { "id": "rs748658555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748658555" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->SET).", "chr_id": "6", "chr_pos": "73820465", "evidence": [ { "id": "rs748658555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748658555" }, { "id": "rs748658555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748658555" }, { "id": "rs748658555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748658555#frequency_tab" }, { "id": "rs748658555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748658555" } ] } ], "uniprot_canonical_ac": "Q6YHK3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6YHK3-1", "start_pos": 1355, "end_pos": 1355, "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": "CD109 antigen", "gene_name": "CD109", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 45.3, "length": 1445, "chemical_mass": 161689.0 } ] }, { "start_pos": "163", "end_pos": "83", "site_lbl": "Asn163", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->HCS).", "chr_id": "12", "chr_pos": "95787037", "evidence": [ { "id": "rs2079172773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2079172773" }, { "id": "rs2079172773", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2079172773#frequency_tab" } ] } ], "uniprot_canonical_ac": "Q9HB63-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9HB63-1", "start_pos": 163, "end_pos": 163, "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": "Netrin-4", "gene_name": "NTN4", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 6.8, "length": 628, "chemical_mass": 70071.0 } ] } ], "record_id": "G00273SJ" }