{ "uniprot_canonical_ac": "P08648-1", "uniprot_ac": "P08648", "uniprot_id": "ITA5_HUMAN", "mass": { "chemical_mass": 114536.0, "monoisotopic_mass": 114536.0 }, "refseq": { "ac": "NP_002196", "name": "integrin alpha-5 precursor", "summary": "The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 5 subunit. This subunit associates with the beta 1 subunit to form a fibronectin receptor. This integrin may promote tumor invasion, and higher expression of this gene may be correlated with shorter survival time in lung cancer patients. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196" }, "gene_names": [ { "name": "ITGA5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08648", "id": "P08648" }, { "name": "CD49e; FNRA; VLA-5; VLA5A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196", "id": "NP_002196" }, { "name": "FNRA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08648", "id": "P08648" }, { "name": "ITGA5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196", "id": "NP_002196" } ], "protein_names": [ { "name": "Integrin alpha-5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08648" }, { "name": "CD49 antigen-like family member E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08648" }, { "name": "Fibronectin receptor subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08648" }, { "name": "Integrin alpha-F", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08648" }, { "name": "VLA-5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08648" }, { "name": "integrin alpha-5 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196", "id": "NP_002196" }, { "name": "very late activation protein 5, alpha subunit; fibronectin receptor, alpha subunit; integrin, alpha 5 (fibronectin receptor, alpha polypeptide); integrin alpha-5; integrin alpha-F; CD49 antigen-like family member E; fibronectin receptor subunit alpha; ITGA5/SLC9B1 fusion", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196", "id": "NP_002196" } ], "function": [ { "annotation": "(Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.", "evidence": [ { "database": "UniProtKB", "id": "P08648", "url": "https://www.uniprot.org/uniprot/P08648#function" }, { "database": "PubMed", "id": "10397733", "url": "https://glygen.org/publication/PubMed/10397733" } ] }, { "annotation": "(Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human parvovirus B19.", "evidence": [ { "database": "UniProtKB", "id": "P08648", "url": "https://www.uniprot.org/uniprot/P08648#function" }, { "database": "PubMed", "id": "24478423", "url": "https://glygen.org/publication/PubMed/24478423" } ] }, { "annotation": "(Microbial infection) Integrin ITGA5:ITGB1 acts as a receptor for Human metapneumovirus.", "evidence": [ { "database": "UniProtKB", "id": "P08648", "url": "https://www.uniprot.org/uniprot/P08648#function" }, { "database": "PubMed", "id": "12907437", "url": "https://glygen.org/publication/PubMed/12907437" } ] }, { "annotation": "A Continuous Extension of Gene Set Enrichment Analysis Using the Likelihood Ratio Test Statistics Identifies Vascular Endothelial Growth Factor as a Candidate Pathway for Alzheimer's Disease via ITGA5.", "evidence": [ { "database": "RefSeq", "id": "NP_002196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196" }, { "database": "PubMed", "id": "38160360", "url": "https://glygen.org/publication/PubMed/38160360" } ] }, { "annotation": "Aldo-keto Reductase 1B10 Restrains Cell Migration, Invasion, and Adhesion of Gastric Cancer via Regulating Integrin Subunit Alpha 5.", "evidence": [ { "database": "RefSeq", "id": "NP_002196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196" }, { "database": "PubMed", "id": "37823316", "url": "https://glygen.org/publication/PubMed/37823316" } ] }, { "annotation": "DPP-4 exacerbates LPS-induced endothelial cells inflammation via integrin-alpha5beta1/FAK/AKT signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_002196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196" }, { "database": "PubMed", "id": "38184221", "url": "https://glygen.org/publication/PubMed/38184221" } ] }, { "annotation": "ITGA5 promotes tumor angiogenesis in cervical cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196" }, { "database": "PubMed", "id": "36999964", "url": "https://glygen.org/publication/PubMed/36999964" } ] }, { "annotation": "Integrin alpha-5/beta-1 (ITGA5:ITGB1) is a receptor for fibronectin and fibrinogen. It recognizes the sequence R-G-D in its ligands. ITGA5:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). ITGA5:ITGB1 acts as a receptor for fibronectin (FN1) and mediates R-G-D-dependent cell adhesion to FN1 (PubMed:33962943). ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling (PubMed:29030430). ITGA5:ITGB3 is a receptor for soluble CD40LG and is required for CD40/CD40LG signaling (PubMed:31331973).", "evidence": [ { "database": "UniProtKB", "id": "P08648", "url": "https://www.uniprot.org/uniprot/P08648#function" }, { "database": "PubMed", "id": "12807887", "url": "https://glygen.org/publication/PubMed/12807887" }, { "database": "PubMed", "id": "17158881", "url": "https://glygen.org/publication/PubMed/17158881" }, { "database": "PubMed", "id": "29030430", "url": "https://glygen.org/publication/PubMed/29030430" }, { "database": "PubMed", "id": "25398877", "url": "https://glygen.org/publication/PubMed/25398877" }, { "database": "PubMed", "id": "31331973", "url": "https://glygen.org/publication/PubMed/31331973" }, { "database": "PubMed", "id": "18635536", "url": "https://glygen.org/publication/PubMed/18635536" }, { "database": "PubMed", "id": "33962943", "url": "https://glygen.org/publication/PubMed/33962943" } ] }, { "annotation": "The members of the miR-148/152 family inhibit cancer stem cell-like properties in gastric cancer via negative regulation of ITGA5. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196" }, { "database": "PubMed", "id": "36765401", "url": "https://glygen.org/publication/PubMed/36765401" } ] }, { "annotation": "The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 5 subunit. This subunit associates with the beta 1 subunit to form a fibronectin receptor. This integrin may promote tumor invasion, and higher expression of this gene may be correlated with shorter survival time in lung cancer patients. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_002196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs758458905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758458905" }, { "id": "rs758458905", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758458905" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1047, "end_pos": 1047, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "12", "chr_pos": "54396304", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1047", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08648", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08648" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 184, "end_pos": 184, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFT->NFA).", "chr_id": "12", "chr_pos": "54409265", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T184", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs756204088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756204088" }, { "id": "rs756204088", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756204088" }, { "id": "rs756204088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756204088" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 184, "end_pos": 184, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFI).", "chr_id": "12", "chr_pos": "54409264", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08648", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08648" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 268, "end_pos": 268, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "12", "chr_pos": "54408125", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D268", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs529704616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529704616" }, { "id": "rs529704616", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529704616" }, { "id": "rs529704616", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529704616" }, { "id": "rs529704616", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs529704616#frequency_tab" }, { "id": "rs529704616", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529704616" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 299, "end_pos": 299, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLI).", "chr_id": "12", "chr_pos": "54407659", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758646702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758646702" }, { "id": "rs758646702", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758646702" }, { "id": "rs758646702", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758646702#frequency_tab" }, { "id": "rs758646702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758646702" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 307, "end_pos": 307, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->KGS).", "chr_id": "12", "chr_pos": "54405912", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N307", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755121607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755121607" }, { "id": "rs755121607", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755121607" }, { "id": "rs755121607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755121607" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 316, "end_pos": 316, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS).", "chr_id": "12", "chr_pos": "54405886", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N316", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1301500930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301500930" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08648", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08648" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08648", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08648" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08648", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08648" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08648" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P08648", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08648" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08648", "url": "https://www.uniprot.org/uniprot/P08648" } ], "common_name": "Human" } ], "gene": [ { "name": "ITGA5", "url": "https://www.uniprot.org/uniprot/P08648", "locus": { "chromosome": "12", "start_pos": 54395261, "end_pos": 54419266, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000161638", "url": "https://www.ensembl.org/id/ENSG00000161638" } ] } } ], "crossref": [ { "id": "ENSG00000161638", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000161638", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P08648", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08648", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL3955", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3955", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ITGA5", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA5", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3678", "url": "https://www.ncbi.nlm.nih.gov/gene/3678", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1407", "url": "https://glyconnect.expasy.org/browser/proteins/1407", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "283", "url": "https://glyconnect.expasy.org/browser/proteins/283", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "6141", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6141", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P08648", "url": "https://www.ebi.ac.uk/intact/interactors/id:P08648*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000413", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000413", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013517", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013517", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013519", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013519", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013649", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013649", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018184", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018184", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR028994", "url": "https://www.ebi.ac.uk/interpro/entry/IPR028994", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032695", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032695", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048285", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048285", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048286", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048286", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3678", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3678", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "135620", "url": "http://www.omim.org/entry/135620", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P08648", "url": "https://www.nextprot.org/entry/NX_P08648", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P08648", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08648", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "VIKMDSY", "url": "https://omabrowser.org/oma/group/VIKMDSY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3816176at2759", "url": "http://www.orthodb.org/?query=3816176at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23220", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23220", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23220:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23220:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3VI3", "url": "https://www.rcsb.org/structure/3VI3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3VI4", "url": "https://www.rcsb.org/structure/3VI4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4WJK", "url": "https://www.rcsb.org/structure/4WJK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4WK0", "url": "https://www.rcsb.org/structure/4WK0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4WK2", "url": "https://www.rcsb.org/structure/4WK2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4WK4", "url": "https://www.rcsb.org/structure/4WK4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NWL", "url": "https://www.rcsb.org/structure/7NWL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NXD", "url": "https://www.rcsb.org/structure/7NXD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01839", "url": "http://pfam.xfam.org/family/PF01839", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08441", "url": "http://pfam.xfam.org/family/PF08441", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20805", "url": "http://pfam.xfam.org/family/PF20805", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20806", "url": "http://pfam.xfam.org/family/PF20806", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P08648", "url": "https://pharos.nih.gov/targets/P08648", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000054548", "url": "https://proconsortium.org/app/entry/PR:000054548", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054549", "url": "https://proconsortium.org/app/entry/PR:000054549", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054550", "url": "https://proconsortium.org/app/entry/PR:000054550", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054551", "url": "https://proconsortium.org/app/entry/PR:000054551", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054552", "url": "https://proconsortium.org/app/entry/PR:000054552", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P08648", "url": "http://purl.obolibrary.org/obo/PR_P08648", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1566948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1566948", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-1566977", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1566977", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-445144", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445144", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8941332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8941332", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002196", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P08648", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "B4E3F4", "url": "https://www.uniprot.org/uniprot/B4E3F4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4E3F4-1", "url": "https://www.uniprot.org/uniprot/B4E3F4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YHL9", "url": "https://www.uniprot.org/uniprot/H0YHL9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YHL9-1", "url": "https://www.uniprot.org/uniprot/H0YHL9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIV7", "url": "https://www.uniprot.org/uniprot/H0YIV7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIV7-1", "url": "https://www.uniprot.org/uniprot/H0YIV7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08648", "url": "https://www.uniprot.org/uniprot/P08648", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08648-1", "url": "https://www.uniprot.org/uniprot/P08648-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGSRTPESPLHAVQLRWGPRRRPPLLPLLLLLLPPPPRVGGFNLDAEAPAVLSGPPGSFFGFSVEFYRPGTDGVSVLVGAPKANTSQPGVLQGGAVYLCPWGASPTQCTPIEFDSKGSRLLESSLSSSEGEEPVEYKSLQWFGATVRAHGSSILACAPLYSWRTEKEPLSDPVGTCYLSTDNFTRILEYAPCRSDFSWAAGQGYCQGGFSAEFTKTGRVVLGGPGSYFWQGQILSATQEQIAESYYPEYLINLVQGQLQTRQASSIYDDSYLGYSVAVGEFSGDDTEDFVAGVPKGNLTYGYVTILNGSDIRSLYNFSGEQMASYFGYAVAATDVNGDGLDDLLVGAPLLMDRTPDGRPQEVGRVYVYLQHPAGIEPTPTLTLTGHDEFGRFGSSLTPLGDLDQDGYNDVAIGAPFGGETQQGVVFVFPGGPGGLGSKPSQVLQPLWAASHTPDFFGSALRGGRDLDGNGYPDLIVGSFGVDKAVVYRGRPIVSASASLTIFPAMFNPEERSCSLEGNPVACINLSFCLNASGKHVADSIGFTVELQLDWQKQKGGVRRALFLASRQATLTQTLLIQNGAREDCREMKIYLRNESEFRDKLSPIHIALNFSLDPQAPVDSHGLRPALHYQSKSRIEDKAQILLDCGEDNICVPDLQLEVFGEQNHVYLGDKNALNLTFHAQNVGEGGAYEAELRVTAPPEAEYSGLVRHPGNFSSLSCDYFAVNQSRLLVCDLGNPMKAGASLWGGLRFTVPHLRDTKKTIQFDFQILSKNLNNSQSDVVSFRLSVEAQAQVTLNGVSKPEAVLFPVSDWHPRDQPQKEEDLGPAVHHVYELINQGPSSISQGVLELSCPQALEGQQLLYVTRVTGLNCTTNHPINPKGLELDPEGSLHHQQKREAPSRSSASSGPQILKCPEAECFRLRCELGPLHQQESQSLQLHFRVWAKTFLQREHQPFSLQCEAVYKALKMPYRILPRQLPQKERQVATAVQWTKAEGSYGVPLWIIILAILFGLLLLGLLIYILYKLGFFKRSLPYGTAMEKAQLKPPATSDA", "length": 1049, "header": "sp|P08648-1|ITA5_HUMAN Isoform 1 of Integrin alpha-5 OS=Homo sapiens OX=9606 GN=ITGA5 PE=1 SV=2 CANONICAL=P08648-1" }, "isoforms": [ { "isoform_ac": "B4E3F4-1", "url": "", "sequence": { "sequence": "MGSRTPESPLHAVQLRWGPRRRPPLLPLLLLLLPPPPRVGGFNLDAEAPAVLSGPPGSFFGFSVEFYRPGTDGLSAPGVLTVQLRGRGACGVQVLAVVRGNSSSPWLLHLGMRSTVQLAHREGATERPRGHLLPLHR", "length": 137, "header": "tr|B4E3F4-1|B4E3F4_HUMAN Computationally mapped isoform of cDNA FLJ50382, moderately similar to Integrin alpha-5 OS=Homo sapiens OX=9606 GN=ITGA5 PE=1 SV=1 CANONICAL=P08648-1" }, "locus": { "chromosome": "12", "start_pos": 54419198, "end_pos": 54409273, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435631.6", "url": "https://www.ensembl.org/id/ENST00000435631.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000405865.2", "url": "https://www.ensembl.org/id/ENSP00000405865.2" } ] } }, { "isoform_ac": "H0YHL9-1", "url": "", "sequence": { "sequence": "XLLPLLLLLLPPPPRVGGFNLDAEAPAVLSGPPGSFFGFSVEFYRPGTDGVSVLVGAPKANTSQPGVLQGGAVYLCPWGASPTQCTPIEFDSKGMRSTVQLAHREGATERPRGHLLPLHR", "length": 120, "header": "tr|H0YHL9-1|ITA5_HUMAN Computationally mapped isoform of Integrin alpha-5 OS=Homo sapiens OX=9606 GN=ITGA5 PE=1 SV=1 CANONICAL=P08648-1" }, "locus": { "chromosome": "12", "start_pos": 54419127, "end_pos": 54409271, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553071.1", "url": "https://www.ensembl.org/id/ENST00000553071.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000447347.1", "url": "https://www.ensembl.org/id/ENSP00000447347.1" } ] } }, { "isoform_ac": "H0YIV7-1", "url": "", "sequence": { "sequence": "XREAPSRSSASSGPQILREHQPFSLQCEAVYKALKMPYRILPRQLPQKERQVATAVQWTKAEGSYGVPLWIIILAILFGLLLLGLLIYILYKLGFFKRSLPYGTAMEKAQLKPPATSDA", "length": 119, "header": "tr|H0YIV7-1|H0YIV7_HUMAN Computationally mapped isoform of Integrin subunit alpha 5 OS=Homo sapiens OX=9606 GN=ITGA5 PE=1 SV=1 CANONICAL=P08648-1" }, "locus": { "chromosome": "12", "start_pos": 54399913, "end_pos": 54396295, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547197.1", "url": "https://www.ensembl.org/id/ENST00000547197.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450267.1", "url": "https://www.ensembl.org/id/ENSP00000450267.1" } ] } }, { "isoform_ac": "P08648-1", "url": "", "sequence": { "sequence": "MGSRTPESPLHAVQLRWGPRRRPPLLPLLLLLLPPPPRVGGFNLDAEAPAVLSGPPGSFFGFSVEFYRPGTDGVSVLVGAPKANTSQPGVLQGGAVYLCPWGASPTQCTPIEFDSKGSRLLESSLSSSEGEEPVEYKSLQWFGATVRAHGSSILACAPLYSWRTEKEPLSDPVGTCYLSTDNFTRILEYAPCRSDFSWAAGQGYCQGGFSAEFTKTGRVVLGGPGSYFWQGQILSATQEQIAESYYPEYLINLVQGQLQTRQASSIYDDSYLGYSVAVGEFSGDDTEDFVAGVPKGNLTYGYVTILNGSDIRSLYNFSGEQMASYFGYAVAATDVNGDGLDDLLVGAPLLMDRTPDGRPQEVGRVYVYLQHPAGIEPTPTLTLTGHDEFGRFGSSLTPLGDLDQDGYNDVAIGAPFGGETQQGVVFVFPGGPGGLGSKPSQVLQPLWAASHTPDFFGSALRGGRDLDGNGYPDLIVGSFGVDKAVVYRGRPIVSASASLTIFPAMFNPEERSCSLEGNPVACINLSFCLNASGKHVADSIGFTVELQLDWQKQKGGVRRALFLASRQATLTQTLLIQNGAREDCREMKIYLRNESEFRDKLSPIHIALNFSLDPQAPVDSHGLRPALHYQSKSRIEDKAQILLDCGEDNICVPDLQLEVFGEQNHVYLGDKNALNLTFHAQNVGEGGAYEAELRVTAPPEAEYSGLVRHPGNFSSLSCDYFAVNQSRLLVCDLGNPMKAGASLWGGLRFTVPHLRDTKKTIQFDFQILSKNLNNSQSDVVSFRLSVEAQAQVTLNGVSKPEAVLFPVSDWHPRDQPQKEEDLGPAVHHVYELINQGPSSISQGVLELSCPQALEGQQLLYVTRVTGLNCTTNHPINPKGLELDPEGSLHHQQKREAPSRSSASSGPQILKCPEAECFRLRCELGPLHQQESQSLQLHFRVWAKTFLQREHQPFSLQCEAVYKALKMPYRILPRQLPQKERQVATAVQWTKAEGSYGVPLWIIILAILFGLLLLGLLIYILYKLGFFKRSLPYGTAMEKAQLKPPATSDA", "length": 1049, "header": "sp|P08648-1|ITA5_HUMAN Isoform 1 of Integrin alpha-5 OS=Homo sapiens OX=9606 GN=ITGA5 PE=1 SV=2 CANONICAL=P08648-1" }, "locus": { "chromosome": "12", "start_pos": 54419198, "end_pos": 54396296, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000293379.9", "url": "https://www.ensembl.org/id/ENST00000293379.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000293379.4", "url": "https://www.ensembl.org/id/ENSP00000293379.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1047, "start_aa": "Ser", "end_pos": 1047, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1047", "evidence": [ { "id": "P08648", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08648" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31202709", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31202709" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 182, "start_aa": "Asn", "end_pos": 182, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn182", "evidence": [ { "id": "1407", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1407" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 182, "start_aa": "Asn", "end_pos": 182, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn182", "evidence": [ { "id": "P08648", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08648#ptm_processing" }, { "id": "22451694", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22451694" }, { "id": "7NWL", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7NWL" }, { "id": "33962943", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33962943" }, { "id": "7NXD", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7NXD" }, { "id": "3VI3", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3VI3" }, { "id": "3VI4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3VI4" }, { "id": "4WK0", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4WK0" }, { "id": "4WK2", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4WK2" }, { "id": "4WK4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4WK4" } ] }, { "glytoucan_ac": "G11629QQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "1407", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1407" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", 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