{ "uniprot_canonical_ac": "P02743-1", "uniprot_ac": "P02743", "uniprot_id": "SAMP_HUMAN", "mass": { "chemical_mass": 25387.0, "monoisotopic_mass": 25387.0 }, "refseq": { "ac": "NP_001630", "name": "serum amyloid P-component precursor", "summary": "The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001630" }, "gene_names": [ { "name": "APCS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02743", "id": "P02743" }, { "name": "APCS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001630", "id": "NP_001630" }, { "name": "HEL-S-92n; PTX2; SAP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001630", "id": "NP_001630" }, { "name": "PTX2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02743", "id": "P02743" } ], "protein_names": [ { "name": "Serum amyloid P-component", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02743" }, { "name": "9.5S alpha-1-glycoprotein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02743" }, { "name": "SAP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02743" }, { "name": "pentaxin-related; 9.5S alpha-1-glycoprotein; serum amyloid P-component; epididymis secretory sperm binding protein Li 92n; pentraxin-related; pentraxin-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001630", "id": "NP_001630" }, { "name": "serum amyloid P-component precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001630", "id": "NP_001630" } ], "function": [ { "annotation": "Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin.", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743#function" } ] }, { "annotation": "Local Pentraxin-2 Deficit Is a Feature of Intestinal Fibrosis in Crohn's Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001630" }, { "database": "PubMed", "id": "36884186", "url": "https://glygen.org/publication/PubMed/36884186" } ] }, { "annotation": "Proteomic-based identification of APCS as candidate protein for diagnosis of patients exhibiting anti-tubercular drug induced liver injury. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001630" }, { "database": "PubMed", "id": "37349331", "url": "https://glygen.org/publication/PubMed/37349331" } ] }, { "annotation": "SAP deficiency aggravates periodontitis possibly via C5a-C5aR signaling-mediated defective macrophage phagocytosis of Porphyromonas gingivalis.", "evidence": [ { "database": "RefSeq", "id": "NP_001630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001630" }, { "database": "PubMed", "id": "36243399", "url": "https://glygen.org/publication/PubMed/36243399" } ] }, { "annotation": "The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001630" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P02743", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02743" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 164, "end_pos": 164, "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 (DRS->NRS).", "chr_id": "1", "chr_pos": "159588526", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D164", "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": "rs199816861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199816861" }, { "id": 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11545897" }, { "id": "rs11545897", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs11545897" }, { "id": "rs11545897", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11545897" }, { "id": "rs11545897", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs11545897#frequency_tab" }, { "id": "rs11545897", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs11545897" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 4, "end_pos": 4, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "1", "chr_pos": "159587931", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.001997", "site_lbl": "P4", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200370168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200370168" }, { "id": "rs200370168", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200370168#frequency_tab" }, { "id": "rs200370168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200370168" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 51, "end_pos": 51, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->KFT).", "chr_id": "1", "chr_pos": "159588189", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1570984310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570984310" }, { "id": "rs1570984310", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1570984310" } ], "glycoeffect": [ "n-glyco-sequon-loss", 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"ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K98", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000132703", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132703" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000132703", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132703" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": 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"name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000132703", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132703" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "48.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000132703", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132703" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "32.78", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000132703", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132703" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": 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"evidence": [ { "database": "Bgee", "id": "ENSG00000132703", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132703" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P02743", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02743" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": 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"http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a 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"https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "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", 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"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 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"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, 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"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 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"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": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P02743", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02743" } ], "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P02743", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02743" } ], "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" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P02743", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02743" } ], "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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P02743", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02743" } ], "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": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P02743", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02743" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P02743", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02743" } ], "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": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P02743", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02743" } ], "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": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P02743", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02743" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"MNKPLLWISVLTSLLEAFAHTDLSGKVFVFPRESVTDHVNLITPLEKPLQNFTLCFRAYSDLSRAYSLFSYNTQGRDNELLVYKERVGEYSLYIGRHKVTSKVIEKFPAPVHICVSWESSSGIAEFWINGTPLVKKGLRQGYFVEAQPKIVLGQEQDSYGGKFDRSQSFVGEIGDLYMWDSVLPPENILSAYQGTPLPANILDWQALNYEIRGYVIIKPLVWV", "length": 223, "header": "sp|P02743-1|SAMP_HUMAN Isoform 1 of Serum amyloid P-component OS=Homo sapiens OX=9606 GN=APCS PE=1 SV=2 CANONICAL=P02743-1" }, "locus": { "chromosome": "1", "start_pos": 159588705, "end_pos": 159587922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000255040.3", "url": "https://www.ensembl.org/id/ENST00000255040.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000255040.2", "url": "https://www.ensembl.org/id/ENSP00000255040.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 195, "start_aa": "Thr", "end_pos": 195, "end_aa": "Thr", "residue": "Thr", 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"journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lammich S, Kojro E, Postina R, Gilbert S, Pfeiffer R, Jasionowski M, Haass C, Fahrenholz F", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10097139", "url": "https://glygen.org/publication/PubMed/10097139" } ] }, { "title": "Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions.", "journal": "Nature genetics", "date": "1999", "authors": "Engelender S, Kaminsky Z, Guo X, Sharp AH, Amaravi RK, Kleiderlein JJ, Margolis RL, Troncoso JC, Lanahan AA, Worley PF, Dawson VL, Dawson TM, Ross CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10319874", "url": 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Gao J, Ross CA, Dawson VL, Dawson TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "11590439", "url": "https://glygen.org/publication/PubMed/11590439" } ] }, { "title": "Binding of serum amyloid P-component (SAP) by amyloid fibrils.", "journal": "Clinical and experimental immunology", "date": "1979", "authors": "Pepys MB, Dyck RF, de Beer FC, Skinner M, Cohen AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "118839", "url": "https://glygen.org/publication/PubMed/118839" } ] }, { "title": "Loss of calbindin-D28k from aging human cholinergic basal forebrain: relation to neuronal loss.", "journal": "The Journal of comparative neurology", "date": "2003", "authors": "Geula C, Bu J, Nagykery N, Scinto LF, Chan J, Joseph J, Parker R, Wu CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "12454989", "url": "https://glygen.org/publication/PubMed/12454989" } ] }, { "title": "Isolation and partial characterization of SAA-an amyloid-related protein from human serum.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1976", "authors": "Rosenthal CJ, Franklin EC, Frangione B, Greenspan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "1270801", "url": "https://glygen.org/publication/PubMed/1270801" } ] }, { "title": "Siah-1 facilitates ubiquitination and degradation of synphilin-1.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Nagano Y, Yamashita H, Takahashi T, Kishida S, Nakamura T, Iseki E, Hattori N, Mizuno Y, Kikuchi A, Matsumoto M", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "14506261", "url": "https://glygen.org/publication/PubMed/14506261" } ] }, { "title": "Biochemical and structural characterization of the interaction of memapsin 2 (beta-secretase) cytosolic domain with the VHS domain of GGA proteins.", "journal": "Biochemistry", "date": "2003", "authors": "He X, Zhu G, Koelsch G, Rodgers KK, Zhang XC, Tang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "14567678", "url": "https://glygen.org/publication/PubMed/14567678" } ] }, { "title": "Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Liani E, Eyal A, Avraham E, Shemer R, Szargel R, Berg D, Bornemann A, Riess O, Ross CA, Rott R, Engelender S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "15064394", "url": "https://glygen.org/publication/PubMed/15064394" } ] }, { "title": "Proteomic characterization of novel serum amyloid P component variants from human plasma and urine.", "journal": "Proteomics", "date": "2004", "authors": "Kiernan UA, Nedelkov D, Tubbs KA, Niederkofler EE, Nelson RW", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "reference": [ { "type": "PubMed", "id": "15174148", "url": "https://glygen.org/publication/PubMed/15174148" } ] }, { "title": "Senile seminal vesicle amyloid is derived from semenogelin I.", "journal": "The Journal of laboratory and clinical medicine", "date": "2005", "authors": "Linke RP, Joswig R, Murphy CL, Wang S, Zhou H, Gross U, Rocken C, Westermark P, Weiss DT, Solomon A", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "15962837", "url": "https://glygen.org/publication/PubMed/15962837" } ] }, { "title": "Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Andersen OM, Reiche J, Schmidt V, Gotthardt M, Spoelgen R, Behlke J, von Arnim CA, Breiderhoff T, Jansen P, Wu X, Bales KR, Cappai R, Masters CL, Gliemann J, Mufson EJ, Hyman BT, Paul SM, Nykjaer A, Willnow TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ 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"Serum amyloid P component is the major calcium-dependent specific DNA binding protein of the serum.", "journal": "Biochemical and biophysical research communications", "date": "1987", "authors": "Pepys MB, Butler PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "3675579", "url": "https://glygen.org/publication/PubMed/3675579" } ] }, { "title": "Local Pentraxin-2 Deficit Is a Feature of Intestinal Fibrosis in Crohn's Disease.", "journal": "Digestive diseases and sciences", "date": "2023-03-08", "authors": "Levitte Steven, Peale Franklin V, Jhun Iny, McBride Jacqueline, Neighbors Margaret", "evidence": [ { "database": "RefSeq", "id": "NP_001630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001630" } ], "reference": [ { "type": "PubMed", "id": "36884186", "url": "https://glygen.org/publication/PubMed/36884186" } ] }, { "title": "Proteomic-based identification of APCS as candidate protein for diagnosis of patients exhibiting anti-tubercular drug induced liver injury.", "journal": "Scientific reports", "date": "2023-06-22", "authors": "Kaur Bhavneet, Dixit Ravi, Bakshi Shikha, Konar Monidipa, Sinha Saroj K, Duseja Ajay Kumar, Sharma Sadhna", "evidence": [ { "database": "RefSeq", "id": "NP_001630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001630" } ], "reference": [ { "type": "PubMed", "id": "37349331", "url": "https://glygen.org/publication/PubMed/37349331" } ] }, { "title": "The primary structure of human tissue amyloid P component from a patient with primary idiopathic amyloidosis.", "journal": "J. Biol. Chem.", "date": "1985", "authors": "Prelli F, Pras M, Frangione B", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "reference": [ { "type": "PubMed", "id": "4055725", "url": "https://glygen.org/publication/PubMed/4055725" } ] }, { "title": "Binding of pentraxins to different nuclear structures: C-reactive protein binds to small nuclear ribonucleoprotein particles, serum amyloid P component binds to chromatin and nucleoli.", "journal": "Clinical and experimental immunology", "date": "1994", "authors": "Pepys MB, Booth SE, Tennent GA, Butler PJ, Williams DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8033412", "url": "https://glygen.org/publication/PubMed/8033412" } ] }, { "title": "Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.", "journal": "Nature genetics", "date": "1993", "authors": "Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8097946", "url": "https://glygen.org/publication/PubMed/8097946" } ] }, { "title": "Structure of pentameric human serum amyloid P component.", "journal": "Nature", "date": "1994", "authors": "Emsley J, White HE, O'Hara BP, Oliva G, Srinivasan N, Tickle IJ, Blundell TL, Pepys MB, Wood SP", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" }, { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8114934", "url": "https://glygen.org/publication/PubMed/8114934" } ] }, { "title": "Pathogenic potential of human monoclonal immunoglobulin light chains: relationship of in vitro aggregation to in vivo organ deposition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Myatt EA, Westholm FA, Weiss DT, Solomon A, Schiffer M, Stevens FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8159701", "url": "https://glygen.org/publication/PubMed/8159701" } ] }, { "title": "Human plasma P component: isolation and characterization.", "journal": "Biochemistry", "date": "1978", "authors": "Thompson AR, Enfield DL", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "reference": [ { "type": "PubMed", "id": "81686", "url": "https://glygen.org/publication/PubMed/81686" } ] }, { "title": "Human serum amyloid P component is an invariant constituent of amyloid deposits and has a uniquely homogeneous glycostructure.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1994", "authors": "Pepys MB, Rademacher TW, Amatayakul-Chantler S, Williams P, Noble GE, Hutchinson WL, Hawkins PN, Nelson SR, Gallimore JR, Herbert J, et al.", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" }, { "database": "UniCarbKB", "id": "P02743", "url": "" }, { "database": "GlyConnect", "id": "560", "url": "https://glyconnect.expasy.org/browser/proteins/560" } ], "reference": [ { "type": "PubMed", "id": "8202534", "url": "https://glygen.org/publication/PubMed/8202534" } ] }, { "title": "Human lysozyme gene mutations cause hereditary systemic amyloidosis.", "journal": "Nature", "date": "1993", "authors": "Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8464497", "url": "https://glygen.org/publication/PubMed/8464497" } ] }, { "title": "The carboxy terminus of the beta amyloid protein is critical for the seeding of amyloid formation: implications for the pathogenesis of Alzheimer's disease.", "journal": "Biochemistry", "date": "1993", "authors": "Jarrett JT, Berger EP, Lansbury PT Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8490014", "url": "https://glygen.org/publication/PubMed/8490014" } ] }, { "title": "Localized amyloidosis of the seminal vesicle: identification of lactoferrin immunoreactivity in the amyloid material.", "journal": "Pathology international", "date": "1996", "authors": "Tsutsumi Y, Serizawa A, Hori S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8870004", "url": "https://glygen.org/publication/PubMed/8870004" } ] }, { "title": "Prolactin-derived amyloid in the aging pituitary gland.", "journal": "The American journal of pathology", "date": "1997", "authors": "Westermark P, Eriksson L, Engstrom U, Enestrom S, Sletten K", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "9006323", "url": "https://glygen.org/publication/PubMed/9006323" } ] }, { "title": "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.", "journal": "Nature genetics", "date": "1997", "authors": "Munier FL, Korvatska E, Djemai A, Le Paslier D, Zografos L, Pescia G, Schorderet DF", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "9054935", "url": "https://glygen.org/publication/PubMed/9054935" } ] }, { "title": "Crystal structure of a decameric complex of human serum amyloid P component with bound dAMP.", "journal": "J. Mol. Biol.", "date": "1997", "authors": "Hohenester E, Hutchinson W L, Pepys M B, Wood S P", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "reference": [ { "type": "PubMed", "id": "9217261", "url": "https://glygen.org/publication/PubMed/9217261" } ] }, { "title": "Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease.", "journal": "FEBS letters", "date": "1998", "authors": "El-Agnaf OM, Jakes R, Curran MD, Wallace A", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "9862427", "url": "https://glygen.org/publication/PubMed/9862427" } ] } ], "pathway": [ { "id": "hsa:325", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:325", "resource": "KEGG Pathway" }, { "id": "R-HSA-977225", "name": "Amyloid fiber formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225", "resource": "Reactome", "description": "Amyloid fiber formation" } ], "orthologs": [ { "uniprot_canonical_ac": "O19063-1", "protein_name": "Serum amyloid P-component", "gene_name": "APCS", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MERLLLWVSVLASLPEAFAHRDLTGKVFVFPRESATDHVKLITKLEKPLQNFTLCFRAYSDLSRGYSLFSYNLQGKDNELLVFKHRIGEYSLYIGKTKVTFKVREVFPRPVHICTSWESSTGIAEFWINGEPLVKKGLRQGYSVGAYPRIVLGQEQDSYGGGFDKTQSFVGEIGDLYMWGSVLSPNEIRLVYQGLSFPHPTILDWQALNYEMNGYVVIKPRVWS", "length": 224 }, "evidence": [ { "id": "P02743", "url": "https://omabrowser.org/oma/group/P02743/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "P12246-1", "protein_name": "Serum amyloid P-component", "gene_name": "Apcs", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDKLLLWMFVFTSLLSEAFCQTDLKRKVFVFPRESETDHVKLIPHLEKPLQNFTLCFRTYSDLSRSQSLFSYSVKGRDNELLIYKEKVGEYSLYIGQSKVTVRGMEEYLSPVHLCTTWESSSGIVEFWVNGKPWVKKSLQREYTVKAPPSIVLGQEQDNYGGGFQRSQSFVGEFSDLYMWDYVLTPQDILFVYRDSPVNPNILNWQALNYEINGYVVIRPRVWD", "length": 224 }, "evidence": [ { "id": "45923573", "url": "http://www.informatics.jax.org/homology/45923573", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P23680-1", "protein_name": "Serum amyloid P-component", "gene_name": "Apcs", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDKLLLWMSVFTSLLSEAFAQTDLNQKVFVFPRESETDYVKLIPWLEKPLQNFTLCFRAYSDLSRSQSLFSYSVNSRDNELLIYKDKVGQYSLYIGNSKVTVRGLEEFPSPIHFCTSWESSSGIAEFWVNGKPWVKKGLQKGYTVKSSPSIVLGQEQDTYGGGFDKTQSFVGEIADLYMWDSVLTPENIHSVDRGFPPNPNILDWRALNYEINGYVVIKPRMWDNKSS", "length": 228 }, "evidence": [ { "id": "45923573", "url": "http://www.informatics.jax.org/homology/45923573", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "blood 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"pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "complement component C1q complex binding", "id": "GO:0001849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001849", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "virion binding", "id": "GO:0046790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046790", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "negative regulation of acute inflammatory response", "id": "GO:0002674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002674", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "negative regulation of viral process", "id": "GO:0048525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048525", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "negative regulation of wound healing", "id": "GO:0061045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061045", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "negative regulation of monocyte differentiation", "id": "GO:0045656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045656", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "negative regulation by host of viral exo-alpha-sialidase activity", "id": "GO:0044869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044869", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "negative regulation by host of viral glycoprotein metabolic process", "id": "GO:0044871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044871", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "negative regulation of exo-alpha-sialidase activity", "id": "GO:1903016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903016", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "negative regulation of glycoprotein metabolic process", "id": "GO:1903019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903019", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "chaperone-mediated protein complex assembly", "id": "GO:0051131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051131", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" }, { "name": "negative regulation of viral entry into host cell", "id": "GO:0046597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "serum amyloid P-component N-glycosylated 1 (human)", "definition": "A serum amyloid P-component (human) that has been N-glycosylated at the residue equivalent to Asn-51 of the amino acid sequence represented by UniProtKB:P02743-1, in which the glycan structure is represented by GlyTouCan:G07995VK. Example: UniProtKB:P02743-1, Asn-51, MOD:00160~GNO:G07995VK. [PRO:DNx, PMID:8202534]", "evidence": [ { "id": "PR:000052725", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052725" } ] }, { "name": "serum amyloid P-component N-glycosylated 2 (human)", "definition": "A serum amyloid P-component (human) that has been N-glycosylated at the residue equivalent to Asn-51 of the amino acid sequence represented by UniProtKB:P02743-1, in which the glycan structure is represented by GlyTouCan:G14047PA. Example: UniProtKB:P02743-1, Asn-51, MOD:00160~GNO:G14047PA. [PRO:DNx, PMID:8202534]", "evidence": [ { "id": "PR:000052726", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052726" } ] }, { "name": "serum amyloid P-component N-glycosylated 3 (human)", "definition": "A serum amyloid P-component (human) that has been N-glycosylated at the residue equivalent to Asn-51 of the amino acid sequence represented by UniProtKB:P02743-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P02743-1, Asn-51, MOD:00160~GNO:G36191CD. [PRO:DNx, PMID:8202534]", "evidence": [ { "id": "PR:000052727", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052727" } ] }, { "name": "serum amyloid P-component N-glycosylated 4 (human)", "definition": "A serum amyloid P-component (human) that has been N-glycosylated at the residue equivalent to Asn-51 of the amino acid sequence represented by UniProtKB:P02743-1, in which the glycan structure is represented by GlyTouCan:G45560HM. Example: UniProtKB:P02743-1, Asn-51, MOD:00160~GNO:G45560HM. [PRO:DNx, PMID:8202534]", "evidence": [ { "id": "PR:000052728", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052728" } ] }, { "name": "serum amyloid P-component N-glycosylated 5 (human)", "definition": "A serum amyloid P-component (human) that has been N-glycosylated at the residue equivalent to Asn-51 of the amino acid sequence represented by UniProtKB:P02743-1, in which the glycan structure is represented by GlyTouCan:G51793MY. Example: UniProtKB:P02743-1, Asn-51, MOD:00160~GNO:G51793MY. [PRO:DNx, PMID:8202534]", "evidence": [ { "id": "PR:000052729", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052729" } ] }, { "name": "serum amyloid P-component N-glycosylated 6 (human)", "definition": "A serum amyloid P-component (human) that has been N-glycosylated at the residue equivalent to Asn-51 of the amino acid sequence represented by UniProtKB:P02743-1, in which the glycan structure is represented by GlyTouCan:G53276NK. Example: UniProtKB:P02743-1, Asn-51, MOD:00160~GNO:G53276NK. [PRO:DNx, PMID:8202534]", "evidence": [ { "id": "PR:000052730", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052730" } ] }, { "name": "serum amyloid P-component N-glycosylated 7 (human)", "definition": "A serum amyloid P-component (human) that has been N-glycosylated at the residue equivalent to Asn-51 of the amino acid sequence represented by UniProtKB:P02743-1, in which the glycan structure is represented by GlyTouCan:G75850OP. Example: UniProtKB:P02743-1, Asn-51, MOD:00160~GNO:G75850OP. [PRO:DNx, PMID:8202534]", "evidence": [ { "id": "PR:000052731", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052731" } ] }, { "name": "serum amyloid P-component N-glycosylated 8 (human)", "definition": "A serum amyloid P-component (human) that has been N-glycosylated at the residue equivalent to Asn-51 of the amino acid sequence represented by UniProtKB:P02743-1, in which the glycan structure is represented by GlyTouCan:G77252PU. Example: UniProtKB:P02743-1, Asn-51, MOD:00160~GNO:G77252PU. [PRO:DNx, PMID:8202534]", "evidence": [ { "id": "PR:000052732", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052732" } ] }, { "name": "serum amyloid P-component N-glycosylated 9 (human)", "definition": "A serum amyloid P-component (human) that has been N-glycosylated at the residue equivalent to Asn-51 of the amino acid sequence represented by UniProtKB:P02743-1, in which the glycan structure is represented by GlyTouCan:G84467IZ. Example: UniProtKB:P02743-1, Asn-51, MOD:00160~GNO:G84467IZ. [PRO:DNx, PMID:8202534]", "evidence": [ { "id": "PR:000052733", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052733" } ] }, { "name": "serum amyloid P-component N-glycosylated 10 (human)", "definition": "A serum amyloid P-component (human) that has been N-glycosylated at the residue equivalent to Asn-51 of the amino acid sequence represented by UniProtKB:P02743-1, in which the glycan structure is represented by GlyTouCan:G91365ZQ. Example: UniProtKB:P02743-1, Asn-51, MOD:00160~GNO:G91365ZQ. [PRO:DNx, PMID:8202534]", "evidence": [ { "id": "PR:000052734", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052734" } ] }, { "name": "serum amyloid P-component O-glycosylated 1 (human)", "definition": "A serum amyloid P-component (human) that has been O-glycosylated at the residue equivalent to Thr-195 of the amino acid sequence represented by UniProtKB:P02743-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02743-1, Thr-195, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052735", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052735" } ] } ], "site_annotation": [ { "start_pos": 129, "end_pos": 131, "annotation": "n_glycosylation_sequon" }, { "start_pos": 51, "end_pos": 53, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated with a complex biantennary oligosaccharide chain with a sialic acid at the end (disialo-SAP). Monosialo-SAP as well as asioalo-SAP are also detected (PubMed:15174148).", "evidence": [ { "database": "UniProtKB", "id": "P02743", "url": "https://www.uniprot.org/uniprot/P02743" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "database": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" }, { "database": "PubMed", "id": "15174148", "url": "https://glygen.org/publication/PubMed/15174148" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 51 ], "o_linked_sites": [ 195 ], "snv_sites": [ 4, 22, 51, 53, 98, 164, 195 ], "glycation_sites": [], "phosphorylation_sites": [ 12, 13, 21 ], "sequon_annotation_sites": [ { "start_pos": 129, "end_pos": 131 }, { "start_pos": 51, "end_pos": 53 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 14 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 14 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 80 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }