{ "uniprot_canonical_ac": "P13727-1", "uniprot_ac": "P13727", "uniprot_id": "PRG2_HUMAN", "mass": { "chemical_mass": 25206.0, "monoisotopic_mass": 25206.0 }, "refseq": { "ac": "NP_001230174", "name": "bone marrow proteoglycan isoform 2 preproprotein", "summary": "The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" }, "gene_names": [ { "name": "PRG2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13727", "id": "P13727" }, { "name": "BMPG; MBP; MBP1; proMBP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174", "id": "NP_001230174" }, { "name": "MBP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13727", "id": "P13727" }, { "name": "PRG2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174", "id": "NP_001230174" } ], "protein_names": [ { "name": "Bone marrow proteoglycan", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13727" }, { "name": "BMPG", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13727" }, { "name": "Pregnancy-associated major basic protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13727" }, { "name": "Proteoglycan 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13727" }, { "name": "bone marrow proteoglycan isoform 2 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174", "id": "NP_001230174" }, { "name": "natural killer cell activator; bone marrow proteoglycan; eosinophil granule major basic protein; eosinophil major basic protein; proteoglycan 2 preproprotein; proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174", "id": "NP_001230174" } ], "function": [ { "annotation": "Comparison of pancreatic enzyme abnormalities and protease-activated receptor-2-positive eosinophils in the duodenum of patients with functional dyspepsia-irritable bowel syndrome overlap with functional dyspepsia alone in Asian populations.", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" }, { "database": "PubMed", "id": "37278449", "url": "https://glygen.org/publication/PubMed/37278449" } ] }, { "annotation": "Cytotoxin and helminthotoxin. Also induces non-cytolytic histamine release from human basophils. Involved in antiparasitic defense mechanisms and immune hypersensitivity reactions. The proform acts as a proteinase inhibitor, reducing the activity of PAPPA.", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727#function" }, { "database": "PubMed", "id": "10913121", "url": "https://glygen.org/publication/PubMed/10913121" } ] }, { "annotation": "Development and application of novel immunoassays for eosinophil granule major basic proteins to evaluate eosinophilia and myeloproliferative disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" }, { "database": "PubMed", "id": "33689807", "url": "https://glygen.org/publication/PubMed/33689807" } ] }, { "annotation": "Low PRG2 expression is associated with drug resistance in Chronic myeloid leukemia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" }, { "database": "PubMed", "id": "29936783", "url": "https://glygen.org/publication/PubMed/29936783" } ] }, { "annotation": "Mechanism of atopic cataract caused by eosinophil granule major basic protein.", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" }, { "database": "PubMed", "id": "31595373", "url": "https://glygen.org/publication/PubMed/31595373" } ] }, { "annotation": "PRG2 and AQPEP are misexpressed in fetal membranes in placenta previa and percretadagger.", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" }, { "database": "PubMed", "id": "33982062", "url": "https://glygen.org/publication/PubMed/33982062" } ] }, { "annotation": "The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" } ] }, { "annotation": "This protein contains a peptide that displays strong antibacterial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi.", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" }, { "database": "PubMed", "id": "319906", "url": "https://glygen.org/publication/PubMed/319906" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P13727", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13727" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 23, "end_pos": 23, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (TST->NST); o-glyco-site-loss (T->N).", "chr_id": "11", "chr_pos": "57389308", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T23", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs369798570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369798570" }, { "id": "rs369798570", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369798570" }, { "id": "rs369798570", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369798570#frequency_tab" }, { "id": "rs369798570", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369798570" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 140, "end_pos": 140, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFN->NFS).", "chr_id": "11", "chr_pos": "57388656", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766216971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766216971" }, { "id": "rs766216971", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766216971" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 142, "end_pos": 142, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "11", "chr_pos": "57388650", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P13727", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13727" } ], "glycoeffect": [], "start_pos": 144, "end_pos": 144, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "57388644", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R144", "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": 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"id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { 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"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": "P13727", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13727" } ], "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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P13727", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13727" } ], "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": "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 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"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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P13727", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13727" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13727" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P13727", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13727" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "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 in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P13727", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13727" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P13727", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13727" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P13727", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13727" } ], "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": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P13727", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13727" } ], "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": 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"https://www.rcsb.org/structure/7Y5N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8HGG", "url": "https://www.rcsb.org/structure/8HGG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00059", "url": "http://pfam.xfam.org/family/PF00059", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P13727", "url": "https://pharos.nih.gov/targets/P13727", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000055358", "url": "https://proconsortium.org/app/entry/PR:000055358", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P13727", "url": "http://purl.obolibrary.org/obo/PR_P13727", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174", "database": "RefSeq", 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"MKLPLLLALLFGAVSALHLRSETSTFETPLGAKTLPEDEETPEQEMEETPCRELEEEEEWGSGSEDASKKDGAVESISVPDMVDKNLTCPEEEDTVKVVGIPGCQTCRYLLVRSLQTFSQAWFTCRRCYRGNLVSIHNFNINYRIQCSVSALNQGQVWIGGRITGSGRCRRFQWVDGSRWNFAYWAAHQPWSRGGHCVALCTRGGHWRRAHCLRRLPFICSY", "length": 222, "header": "sp|P13727-1|PRG2_HUMAN Isoform 1 of Bone marrow proteoglycan OS=Homo sapiens OX=9606 GN=PRG2 PE=1 SV=2 CANONICAL=P13727-1" }, "locus": { "chromosome": "11", "start_pos": 57389944, "end_pos": 57387478, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000311862.10", "url": "https://www.ensembl.org/id/ENST00000311862.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000312134.5", "url": "https://www.ensembl.org/id/ENSP00000312134.5" } ] } }, { "isoform_ac": "P13727-2", "url": "", "sequence": { "sequence": "MKLPLLLALLFGAVSALHLRSETSTFETPLGAKTLPEDEETPEQEMEETPCRELEEEEEWGSGSEDASKKDGAVESISVPDMVDKNLTCPEEEDTVKVVGIPGCQTCRYLLFTCRRCYRGNLVSIHNFNINYRIQCSVSALNQGQVWIGGRITGSGRCRRFQWVDGSRWNFAYWAAHQPWSRGGHCVALCTRGGHWRRAHCLRRLPFICSY", "length": 211, "header": "sp|P13727-2|PRG2_HUMAN Isoform 2 of Bone marrow proteoglycan OS=Homo sapiens OX=9606 GN=PRG2 PE=1 SV=2 CANONICAL=P13727-1" }, "locus": { "chromosome": "11", "start_pos": 57389944, "end_pos": 57387478, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533605.5", "url": "https://www.ensembl.org/id/ENST00000533605.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433231.1", "url": "https://www.ensembl.org/id/ENSP00000433231.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "SETSTFETPLGAK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 21, "start_aa": "Ser", "end_pos": 33, "end_aa": "Lys", "evidence": [ { "id": "P13727", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" }, { "id": "28035807", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28035807" }, { "id": "10.1021/acs.analchem.6b02887", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1021/acs.analchem.6b02887" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 23, "start_aa": "Thr", "end_pos": 23, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr23", "evidence": [ { "id": "P13727", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine; partial O-GalNAcylation", "start_pos": 23, "start_aa": "Thr", "end_pos": 23, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr23", "evidence": [ { "id": "P13727", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13727#ptm_processing" }, { "id": "7524900", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7524900" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 24, "start_aa": "Ser", "end_pos": 24, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser24", "evidence": [ { "id": "P13727", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine O-GalNAcylation", "start_pos": 24, "start_aa": "Ser", "end_pos": 24, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser24", "evidence": [ { "id": "P13727", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13727#ptm_processing" }, { "id": "7524900", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7524900" }, { "id": "8507662", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8507662" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 25, "start_aa": "Thr", "end_pos": 25, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr25", "evidence": [ { "id": "P13727", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 25, "start_aa": "Thr", "end_pos": 25, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr25", "evidence": [ { "id": "P13727", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 25, "start_aa": "Thr", "end_pos": 25, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr25", "evidence": [ { "id": "P13727", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13727#ptm_processing" }, { "id": "7524900", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7524900" }, { "id": "8507662", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8507662" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine; partial O-GalNAcylation", "start_pos": 34, "start_aa": "Thr", "end_pos": 34, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr34", "evidence": [ { "id": "P13727", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13727#ptm_processing" }, { "id": "7524900", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7524900" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "start_pos": 62, "start_aa": "Ser", "end_pos": 62, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser62", "evidence": [ { "id": "P13727", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13727#ptm_processing" }, { "id": "7524900", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7524900" }, { "id": "32337544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32337544" }, { "id": "36213313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36213313" }, { "id": "25326458", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25326458" }, { "id": "8507662", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8507662" }, { "id": "37453717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453717" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 86, "start_aa": "Asn", "end_pos": 86, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn86", "evidence": [ { "id": "P13727", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13727#ptm_processing" }, { "id": "7524900", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7524900" }, { "id": "8507662", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8507662" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Proteomics Analysis of O-GalNAc Glycosylation in Human Serum by an Integrated Strategy", "journal": "Anal. Chem.", "date": "2017", "authors": "Qin H., Cheng K., Zhu J., Mao J., Wang F., Dong M., Chen R., Guo Z., Liang X., Ye M., Zou H.", "evidence": [ { "database": "UniCarbKB", "id": "P13727", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1021/acs.analchem.6b02887", "url": "https://glygen.org/publication/DOI/10.1021/acs.analchem.6b02887" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "P13727", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Messenger ribonucleic acid levels of pregnancy-associated plasma protein-A and the proform of eosinophil major basic protein: expression in human reproductive and nonreproductive tissues.", "journal": "Biol. Reprod.", "date": "1999", "authors": "Overgaard M T, Oxvig C, Christiansen M, Lawrence J B, Conover C A, Gleich G J, Sottrup-Jensen L, Haaning J", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "10491647", "url": "https://glygen.org/publication/PubMed/10491647" } ] }, { "title": "Expression of recombinant human pregnancy-associated plasma protein-A and identification of the proform of eosinophil major basic protein as its physiological inhibitor.", "journal": "The Journal of biological chemistry", "date": "2000-10-06", "authors": "Overgaard M T, Haaning J, Boldt H B, Olsen I M, Laursen L S, Christiansen M, Gleich G J, Sottrup-Jensen L, Conover C A, Oxvig C", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "10913121", "url": "https://glygen.org/publication/PubMed/10913121" } ] }, { "title": "Crystal structure of the eosinophil major basic protein at 1.8-A. An atypical lectin with a paradigm shift in specificity.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Swaminathan G J, Weaver A J, Loegering D A, Checkel J L, Leonidas D D, Gleich G J, Acharya K R", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "11319227", "url": "https://glygen.org/publication/PubMed/11319227" } ] }, { "title": "Complex of pregnancy-associated plasma protein-A and the proform of eosinophil major basic protein. Disulfide structure and carbohydrate attachment sites.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Overgaard MT, Sorensen ES, Stachowiak D, Boldt HB, Kristensen L, Sottrup-Jensen L, Oxvig C", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "12421832", "url": "https://glygen.org/publication/PubMed/12421832" } ] }, { "title": "Purification and cDNA cloning of a novel factor produced by a human T-cell hybridoma: sequence homology with animal lectins.", "journal": "Mol. Immunol.", "date": "1992", "authors": "Yoshimatsu K, Ohya Y, Shikata Y, Seto T, Hasegawa Y, Tanaka I, Kawamura T, Kitoh K, Toyoshima S, Osawa T", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "1565101", "url": "https://glygen.org/publication/PubMed/1565101" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Post-translational tyrosine nitration of eosinophil granule toxins mediated by eosinophil peroxidase.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Ulrich M, Petre A, Youhnovski N, Promm F, Schirle M, Schumm M, Pero RS, Doyle A, Checkel J, Kita H, Thiyagarajan N, Acharya KR, Schmid-Grendelmeier P, Simon HU, Schwarz H, Tsutsui M, Shimokawa H, Bellon G, Lee JJ, Przybylski M, Doring G", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "18694936", "url": "https://glygen.org/publication/PubMed/18694936" } ] }, { "title": "Cloning and sequence analysis of the human gene encoding eosinophil major basic protein.", "journal": "Gene", "date": "1990", "authors": "Barker RL, Loegering DA, Arakawa KC, Pease LR, Gleich GJ", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "2323577", "url": "https://glygen.org/publication/PubMed/2323577" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "P13727", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Whole-genome sequencing identifies recurrent mutations in hepatocellular carcinoma.", "journal": "Genome research", "date": "2013", "authors": "Kan Z, Zheng H, Liu X, Li S, Barber TD, Gong Z, Gao H, Hao K, Willard MD, Xu J, Hauptschein R, Rejto PA, Fernandez J, Wang G, Zhang Q, Wang B, Chen R, Wang J, Lee NP, Zhou W, Lin Z, Peng Z, Yi K, Chen S, Li L, Fan X, Yang J, Ye R, Ju J, Wang K, Estrella H, Deng S, Wei P, Qiu M, Wulur IH, Liu J, Ehsani ME, Zhang C, Loboda A, Sung WK, Aggarwal A, Poon RT, Fan ST, Wang J, Hardwick J, Reinhard C, Dai H, Li Y, Luk JM, Mao M", "evidence": [ { "database": "dbSNP", "id": "rs373649120", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373649120" } ], "reference": [ { "type": "PubMed", "id": "23788652", "url": "https://glygen.org/publication/PubMed/23788652" } ] }, { "title": "Antibiotic proteins of human polymorphonuclear leukocytes.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1989", "authors": "Gabay JE, Scott RW, Campanelli D, Griffith J, Wilde C, Marra MN, Seeger M, Nathan CF", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "2501794", "url": "https://glygen.org/publication/PubMed/2501794" } ] }, { "title": "Identification of chondroitin sulfate linkage region glycopeptides reveals prohormones as a novel class of proteoglycans.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015-01", "authors": "Noborn Fredrik, Gomez Toledo Alejandro, Sihlbom Carina, Lengqvist Johan, Fries Erik, Kjell\u00e9n Lena, Nilsson Jonas, Larson G\u00f6ran", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727#ptm_processing" }, { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "25326458", "url": "https://glygen.org/publication/PubMed/25326458" } ] }, { "title": "Evidence of eosinophil granule major basic protein in human placenta.", "journal": "J. Exp. Med.", "date": "1989", "authors": "Wasmoen T L, McKean D J, Benirschke K, Coulam C B, Gleich G J", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "2584934", "url": "https://glygen.org/publication/PubMed/2584934" } ] }, { "title": "Proteomics Analysis of O-GalNAc Glycosylation in Human Serum by an Integrated Strategy.", "journal": "Analytical chemistry", "date": "2017", "authors": "Qin H, Cheng K, Zhu J, Mao J, Wang F, Dong M, Chen R, Guo Z, Liang X, Ye M, Zou H", "evidence": [ { "database": "UniCarbKB", "id": "P13727", "url": "" } ], "reference": [ { "type": "PubMed", "id": "28035807", "url": "https://glygen.org/publication/PubMed/28035807" } ] }, { "title": "Re-Expression of Bone Marrow Proteoglycan-2 by 5-Azacytidine is associated with STAT3 Inactivation and Sensitivity Response to Imatinib in Resistant CML Cells", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2018", "authors": "Al-Jamal HAN, Johan MF, Mat Jusoh SA, Ismail I, Wan Taib WR", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" } ], "reference": [ { "type": "PubMed", "id": "29936783", "url": "https://glygen.org/publication/PubMed/29936783" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P13727", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Mechanism of atopic cataract caused by eosinophil granule major basic protein.", "journal": "Medical molecular morphology", "date": "2020", "authors": "Yamamoto N, Hiramatsu N, Isogai S, Kondo M, Imaizumi K, Horiguchi M", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" } ], "reference": [ { "type": "PubMed", "id": "31595373", "url": "https://glygen.org/publication/PubMed/31595373" } ] }, { "title": "Acidic precursor revealed in human eosinophil granule major basic protein cDNA.", "journal": "J. Exp. Med.", "date": "1988", "authors": "Barker R L, Gleich G J, Pease L R", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "3171483", "url": "https://glygen.org/publication/PubMed/3171483" } ] }, { "title": "Localization of somatostatin-like immunoreactivity in the pancreatic islets of the hagfish, Myxine glutinosa and the lamprey Lampetra fluviatilis.", "journal": "Cell and tissue research", "date": "1977", "authors": "Van Noorden S, Ostberg Y, Pearse AG", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" } ], "reference": [ { "type": "PubMed", "id": "319906", "url": "https://glygen.org/publication/PubMed/319906" } ] }, { "title": "Isolation of a complementary DNA clone encoding a precursor to human eosinophil major basic protein.", "journal": "J. Exp. Med.", "date": "1988", "authors": "McGrogan M, Simonsen C, Scott R, Griffith J, Ellis N, Kennedy J, Campanelli D, Nathan C, Gabay J", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "3199069", "url": "https://glygen.org/publication/PubMed/3199069" } ] }, { "title": "An affinity chromatography and glycoproteomics workflow to profile the chondroitin sulfate proteoglycans that interact with malarial VAR2CSA in the placenta and in cancer.", "journal": "Glycobiology", "date": "2020-12-09", "authors": "Toledo Alejandro G\u00f3mez, Pihl Jessica, Spliid Charlotte B, Persson Andrea, Nilsson Jonas, Pereira Marina Ayres, Gustavsson Tobias, Choudhary Swati, Oo Htoo Zarni, Black Peter C, Daugaard Mads, Esko Jeffrey D, Larson G\u00f6ran, Salanti Ali, Clausen Thomas Mandel", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727#ptm_processing" }, { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "32337544", "url": "https://glygen.org/publication/PubMed/32337544" } ] }, { "title": "Development and application of novel immunoassays for eosinophil granule major basic proteins to evaluate eosinophilia and myeloproliferative disorders.", "journal": "Journal of immunological methods", "date": "2021", "authors": "Squillace DL, Checkel JL, Tefferi A, Kita H, Gleich GJ", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" } ], "reference": [ { "type": "PubMed", "id": "33689807", "url": "https://glygen.org/publication/PubMed/33689807" } ] }, { "title": "PRG2 and AQPEP are misexpressed in fetal membranes in placenta previa and percretadagger.", "journal": "Biology of reproduction", "date": "2021", "authors": "Zhang ET, Hannibal RL, Badillo Rivera KM, Song JHT, McGowan K, Zhu X, Meinhardt G, Knofler M, Pollheimer J, Urban AE, Folkins AK, Lyell DJ, Baker JC", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" } ], "reference": [ { "type": "PubMed", "id": "33982062", "url": "https://glygen.org/publication/PubMed/33982062" } ] }, { "title": "Biochemical and amino acid sequence analysis of human eosinophil granule major basic protein.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Wasmoen T L, Bell M P, Loegering D A, Gleich G J, Prendergast F G, McKean D J", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "3410852", "url": "https://glygen.org/publication/PubMed/3410852" } ] }, { "title": "Eosinophil granule cationic proteins: major basic protein is distinct from the smaller subunit of eosinophil peroxidase.", "journal": "J. Leukoc. Biol.", "date": "1988", "authors": "Weller P F, Ackerman S J, Smith J A", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "3422083", "url": "https://glygen.org/publication/PubMed/3422083" } ] }, { "title": "Mass spectrometric analysis of chondroitin sulfate-linked peptides.", "journal": "Journal of proteins and proteomics", "date": "2022", "authors": "Ramarajan Madan Gopal, Saraswat Mayank, Budhraja Rohit, Garapati Kishore, Raymond Kimiyo, Pandey Akhilesh", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727#ptm_processing" }, { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "36213313", "url": "https://glygen.org/publication/PubMed/36213313" } ] }, { "title": "Comparison of pancreatic enzyme abnormalities and protease-activated receptor-2-positive eosinophils in the duodenum of patients with functional dyspepsia-irritable bowel syndrome overlap with functional dyspepsia alone in Asian populations.", "journal": "Journal of gastroenterology and hepatology", "date": "2023-10", "authors": "Futagami Seiji, Kessoku Takaomi, Kasai Yuki, Higurashi Takuma, Nakajima Atsushi, Agawa Shuhei, Yamawaki Hiroshi, Nakamura Ken, Habiro Mayu, Kawawa Rie, Ueki Nobue, Higashida Sakura, Watanabe Yoshiyuki, Yamato Hiroshi, Yamamoto Takatsugu, Takasaki Yusuke, Ito Koichi, Hojo Mariko, Isayama Hiroyuki, Motoda Norio, Ohashi Ryuji, Siah Kewin Tien Ho, Ng Carissa Kahmun, Gwee Kok-Ann", "evidence": [ { "database": "RefSeq", "id": "NP_001230174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230174" } ], "reference": [ { "type": "PubMed", "id": "37278449", "url": "https://glygen.org/publication/PubMed/37278449" } ] }, { "title": "Mapping the Human Chondroitin Sulfate Glycoproteome Reveals an Unexpected Correlation Between Glycan Sulfation and Attachment Site Characteristics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2023-08", "authors": "Noborn Fredrik, Nilsson Jonas, Sihlbom Carina, Nikpour Mahnaz, Kjell\u00e9n Lena, Larson G\u00f6ran", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727#ptm_processing" }, { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "37453717", "url": "https://glygen.org/publication/PubMed/37453717" } ] }, { "title": "Amino acid sequence of human pregnancy-associated plasma protein-A derived from cloned cDNA.", "journal": "Biochemistry", "date": "1994", "authors": "Kristensen T, Oxvig C, Sand O, M\u00f8ller N P, Sottrup-Jensen L", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "7508748", "url": "https://glygen.org/publication/PubMed/7508748" } ] }, { "title": "Location and nature of carbohydrate groups in proform of human major basic protein isolated from pregnancy serum.", "journal": "Biochemistry and molecular biology international", "date": "1994", "authors": "Oxvig C, Haaning J, Hojrup P, Sottrup-Jensen L", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727#ptm_processing" }, { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "7524900", "url": "https://glygen.org/publication/PubMed/7524900" } ] }, { "title": "Localization of pregnancy-associated plasma protein-A and colocalization of pregnancy-associated plasma protein-A messenger ribonucleic acid and eosinophil granule major basic protein messenger ribonucleic acid in placenta.", "journal": "Lab. Invest.", "date": "1994", "authors": "Bonno M, Oxvig C, Kephart G M, Wagner J M, Kristensen T, Sottrup-Jensen L, Gleich G J", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "7526035", "url": "https://glygen.org/publication/PubMed/7526035" } ] }, { "title": "Human eosinophil major basic protein, a mediator of allergic inflammation, is expressed by alternative splicing from two promoters.", "journal": "Biochem. J.", "date": "1995", "authors": "Li MS, Sun L, Satoh T, Fisher LM, Spry CJ", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "7531438", "url": "https://glygen.org/publication/PubMed/7531438" } ] }, { "title": "Identification of angiotensinogen and complement C3dg as novel proteins binding the proform of eosinophil major basic protein in human pregnancy serum and plasma.", "journal": "J. Biol. Chem.", "date": "1995", "authors": "Oxvig C, Haaning J, Kristensen L, Wagner J M, Rubin I, Stigbrand T, Gleich G J, Sottrup-Jensen L", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "reference": [ { "type": "PubMed", "id": "7539791", "url": "https://glygen.org/publication/PubMed/7539791" } ] }, { "title": "Circulating human pregnancy-associated plasma protein-A is disulfide-bridged to the proform of eosinophil major basic protein.", "journal": "J. Biol. 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"GO:0032753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032753", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "pmid": "" }, { "name": "ficolin-1-rich granule lumen", "id": "GO:1904813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904813", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring compression resistance", "id": "GO:0030021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030021", "evidence": [ { "database": "UniProtKB", "id": "P13727", "url": "https://www.uniprot.org/uniprot/P13727" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "bone marrow proteoglycan O-glycosylated 1 (human)", "definition": "A bone marrow proteoglycan (human) that has been O-glycosylated at the residue equivalent to Thr-25 of the amino acid sequence represented by UniProtKB:P13727-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P13727-1, Thr-25, MOD:00005~GNO:G43417UB. 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